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Sample records for syndrome critical region

  1. Characterisation of the Angelman syndrome critical region

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    Gilbert, H.L.; Buxton, J.; Chan, C.T.J. [Univ. of London (United Kingdom)] [and others

    1994-09-01

    Angelman syndrome (AS) and Prader-Willi syndrome (PWS) are distinct neurogenetic disorders associated with a deletion of 15q11-13, a region subject to genomic imprinting. The chromosomal deletions are either maternal (AS) or paternal (PWS) in origin. The AS critical region was previously defined by an inherited deletion of approximately 1.5 Mb, encompassing TD3-21, LS6-1 and GABRB3. An individual with classical AS has been identified whose deletion includes LS6-1 but not TD3-21 or GABRB3. Both maternal and paternal methylation patterns at ZNF127, PW71B and SNRPN are present, suggesting that the AS gene itself is a disrupted, rather than imprinting sequences, as proposed recently for some familial cases. Initially, the deletion was detected by (CA)n repeat analysis. Cosmids derived from a 260 kb LS6-1 YAC were then used to confirm the deletion by fluorescence in-situ hybridization (FISH). Neither end cosmid from the YAC is deleted, suggesting that the AS critical region is less than 200 kb. Fragments isolated from the cosmids which span the deletion were used to further delineate the AS critical region by Southern blot analysis. Single copy genomic fragments within this region were then used to search for differential parental methylation patterns and potential coding sequences. We have used cosmids from the region in exon-trapping experiments. Using this combination of approaches, we aim to identify candidate genes for AS.

  2. Duplication 3q syndrome: Molecular delineation of the critical region

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    Aqua, M.S.; Rizzu, P.; Lindsay, E.A. [Baylor College of Medicine, Houston, TX (United States)] [and others

    1995-01-02

    The phenotype of dup(3q) syndrome partially overlaps with Brachmann-de Lange phenotype. Convulsions and eye, palate renal, and cardiac anomalies are more frequent in dup(3q) syndrome, while limb deficiencies, hirsutism, and synophrys are more characteristic of Brachmann-de Lange syndrome. Whether the two syndromes have a biological relationship has yet to be demonstrated. Using two patient translocation cell lines, each involving distal 3q, we have narrowed the critical region of the dup(3q) syndrome to the interval 3q26.31-q27.3 and initiated its molecular characterization. We have mapped in this region 6 cosmid clones spanning approximately 3 - 5 Mb. The critical region appears to overlap with the region where a balanced translocation was found in a Brachmann-de Lange patient. This work provides the mapping framework for finer molecular analysis dup(3q) syndrome. 25 refs., 3 figs.

  3. A yeast artificial chromosome contig of the critical region for cri-du-chat syndrome

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    Goodart, S.A.; Rojas, K.; Overhauser, J. [Thomas Jefferson Univ., Philadelphia, PA (United States)] [and others

    1994-11-01

    Cri-du-chat is a chromosomal deletion syndrome characterized by partial deletion of the short arm of chromosome 5. The clinical symptoms include growth and mental retardation, microcephaly, hypertelorism, epicanthal folds, hyptonia, and a high-pitched monochromatic cry that is usually considered diagnostic for the syndrome. Recently, a correlation between clinical features and the extent of the chromosome 5 deletions has identified two regions of the short arm that appear to be critical for the abnormal development manifested in this syndrome. Loss of a small region in 5p15.2 correlates with all of the clinical features of cri-du-chat with the exception of the cat-like cry, which maps to 5p15.3. Here the authors report the construction of a YAC contig that spans the chromosomal region in 5p15.2 that plays a major role in the etiology of the cri-du-chat syndrome. YACs that span the 2-Mb cri-du-chat critical region have been identified and characterized. This YAC contig lays the groundwork for the construction of a transcriptional map of this region and the eventual identification of genes involved in the clinical features associated with the cri-du-chat syndrome. It also provides a new diagnostic tool for cri-du-chat in the shape of a YAC clone that may span the entire critical region. 24 refs., 4 figs., 2 tabs.

  4. Cloning of a balanced translocation breakpoint mapping in the DiGeorge syndrome critical region

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    Demczuk, S.; Zucman, J.; Desmaze, C. [Institut Curie, Paris (France)] [and others

    1994-09-01

    DiGeorge syndrome (DGS) is a developmental defect of thymus, parathyroids and heart, which is associated with microdeletions in chromosomal region 22q11.2. A detailed physical map of the region has been established and a shortest region of overlap based on deletions and unbalanced translocations giving rise to DGS has been derived. Moreover, the breakpoint of a balanced translocation borne by a DGS patient has been localized in that critical region; thereby suggesting that the translocation breakpoint interrupts the or one of the major gene(s) implicated in DGS. We have initiated a chromosome walk by establishing cosmid contigs from probes distally flanking the breakpoint. One contig covers 150 kb of genomic DNA and a second one spans 350 kb in the region and contains the balanced translocation breakpoint. Phylogenetically conserved sequences are being searched for in the vicinity of the breakpoint to be used as probes in order to isolate cDNAs.

  5. Cytogenomic Integrative Network Analysis of the Critical Region Associated with Wolf-Hirschhorn Syndrome

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    Thiago Corrêa

    2018-01-01

    Full Text Available Deletions in the 4p16.3 region are associated with Wolf-Hirschhorn syndrome (WHS, a contiguous gene deletion syndrome involving variable size deletions. In this study, we perform a cytogenomic integrative analysis combining classical cytogenetic methods, fluorescence in situ hybridization (FISH, chromosomal microarray analysis (CMA, and systems biology strategies, to establish the cytogenomic profile involving the 4p16.3 critical region and suggest WHS-related intracellular cell signaling cascades. The cytogenetic and clinical patient profiles were evaluated. We characterized 12 terminal deletions, one interstitial deletion, two ring chromosomes, and one classical translocation 4;8. CMA allowed delineation of the deletions, which ranged from 3.7 to 25.6 Mb with breakpoints from 4p16.3 to 4p15.33. Furthermore, the smallest region of overlapping (SRO encompassed seven genes in a terminal region of 330 kb in the 4p16.3 region, suggesting a region of susceptibility to convulsions and microcephaly. Therefore, molecular interaction networks and topological analysis were performed to understand these WHS-related symptoms. Our results suggest that specific cell signaling pathways including dopamine receptor, NAD+ nucleosidase activity, and fibroblast growth factor-activated receptor activity are associated with the diverse pathological WHS phenotypes and their symptoms. Additionally, we identified 29 hub-bottlenecks (H-B nodes with a major role in WHS.

  6. Deletion mapping of 22q11 in CATCH22 syndrome: Identification of a second critical region

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    Kurahashi, Hiroki; Nakayama, Takahiro; Nishisho, Isamu [Osaka Univ. Medical School, Yokohama (Japan)] [and others

    1996-06-01

    The deletion at 22q11.2 implicates a variety of congenital anomaly syndromes, for which the acronym CATCH22 has been proposed . Most patients with these syndromes share the common large deletion spanning 1-2 Mb, while the phenotypic variability of the patients does not seem to correlate with the extent of the deletions. On the basis of the deletions of rare cases with unbalanced translocation, the shortest region of overlap (SRO) had been identified in the most-centromeric region of the common large deletion. One patient (ADU) has been reported to carry a balanced translocation with the breakpoint located in the SRO. Recently, three transcripts were identified at or very close to the ADU breakpoint (ADUBP), making them strong candidates for CATCH22 syndrome. Here, we describe one patient with a unique deletion at 22q11.2 revealed by quantitative hybridization and/or FISH with six DNA markers in the common large deletion. The patient was dizygous at loci within the SRO and hemizygous only at the most-telomeric locus in the common large deletion. This finding suggests that there must be another critical region in the common large deletion besides the breakpoint of the ADU and that haploinsufficiency of genes in this deletion may also play a major role in CATCH22 pathogenesis. 15 refs., 3 figs.

  7. Familial Angelman syndrome with a crossover in the critical deletion region

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    Nelen, M.R.; Van der Burgt, C.J.A.M.; Nillesen, W.N.; Smeets, H.J.M. [University Hospital Nijmegen (Netherlands); Vis, A. [Institute for Mentally Handicapped De Winckelsteegh, Nijmegen (Netherlands)

    1994-09-01

    More than two thirds of the patients with Angelman syndrome (AS) carry a deletion or other chromosomal abnormality in the 15q11-13 region. A much less frequent cause (4%) is paternal uniparental disomy of the entire chromosome. In general no abnormalities are detectable in familial cases and an inherited submicroscopic deletion was described only once. Here a familial case of 2 sibs with AS is reported. No major cytogenetic or molecular abnormality was identified, but a recombination event had occurred in the AS critical region. The AS locus, D15S113, D15S10, D15S11, and D15S18 mapped proximal and the GABRB3 gene, D15S97, and GABRA5 gene, and D15S12 distal to the crossover site. This recombination within the AS critical region confirmed the exclusion of GABRB3 as a candidate gene for AS. Other markers and candidate genes can be tested genetically as well for a possible role in AS. 36 refs., 4 figs.

  8. Minute supernumerary ring chromosome 22 associated with cat eye syndrome: further delineation of the critical region.

    Science.gov (United States)

    Mears, A J; el-Shanti, H; Murray, J C; McDermid, H E; Patil, S R

    1995-09-01

    Cat eye syndrome (CES) is typically associated with a supernumerary bisatellited marker chromosome (inv dup 22pter-22q11.2) resulting in four copies of this region. We describe an individual showing the inheritance of a minute supernumerary double ring chromosome 22, which resulted in expression of all cardinal features of CES. The size of the ring was determined by DNA dosage analysis and FISH analysis for five loci mapping to 22q11.2. The probes to the loci D22S9, D22S43, and ATP6E were present in four copies, whereas D22S57 and D22S181 were present in two copies. This finding further delineates the distal boundary of the critical region of CES, with ATP6E being the most distal duplicated locus identified. The phenotypically normal father and grandfather of the patient each had a small supernumerary ring chromosome and demonstrated three copies for the loci D22S9, D22S43, and ATP6E. Although three copies of this region have been reported in other cases with CES features, it is possible that the presence of four copies leads to greater susceptibility.

  9. Minute supernumerary ring chromosome 22 associated with cat eye syndrome: Further delineation of the critical region

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    Mears, A.J.; McDermid, H.E. [Univ. of Alberta, Edmonton (Canada); El-Shanti, H. [Jordan Univ. of Science and Technology, Irbid (Jordan)] [and others

    1995-09-01

    Cat eye syndrome (CES) is typically associated with a supernumerary bisatellited marker chromosome (inv dup 22pter-22q11.2) resulting in four copies of this region. We describe an individual showing the inheritance of a minute supernumerary double ring chromosome 22, which resulted in expression of all cardinal features of CES. The size of the ring was determined by DNA dosage analysis and FISH analysis for five loci mapping to 22q11.2. The probes to the loci D22S9, D22S43, and ATP6E were present in four copies, whereas D22S57 and D22S181 were present in two copies. This finding further delineates the distal boundary of the critical region of CES, with ATP6E being the most distal duplicated locus identified. The phenotypically normal father and grandfather of the patient each had a small supernumerary ring chromosome and demonstrated three copies for the loci D22S9, D22S43, and ATP6E. Although three copies of this region have been reported in other cases with CES features, it is possible that the presence of four copies leads to greater susceptibility. 35 refs., 4 figs., 2 tabs.

  10. Deletion involving D15S113 in a mother and son without Angelman syndrome: Refinement of the Angelman syndrome critical deletion region

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    Michaelis, R.C.; Skinner, S.A.; Lethco, B.A. [Greenwood Genetic Center, SC (United States)] [and others

    1995-01-02

    Deletions of 15q11-q13 typically result in Angelman syndrome when inherited from the mother and Prader-Willi syndrome when inherited from the father. The critical deletion region for Angelman syndrome has recently been restricted by a report of an Angelman syndrome patient with a deletion spanning less than 200 kb around the D15S113 locus. We report here on a mother and son with a deletion of chromosome 15 that includes the D15S113 locus. The son has mild to moderate mental retardation and minor anomalies, while the mother has a borderline intellectual deficit and slightly downslanting palpebral fissures. Neither patient has the seizures, excessive laughter and hand clapping, ataxia or the facial anomalies which are characteristic of Angelman syndrome. The proximal boundary of the deletion in our patients lies between the D15S10 and The D15S113 loci. Our patients do not have Angelman syndrome, despite the deletion of the D15S113 marker. This suggests that the Angelman syndrome critical deletion region is now defined as the overlap between the deletion found in the previously reported Angelman syndrome patient and the region that is intact in our patients. 28 refs., 6 figs.

  11. The critical region for Angelman syndrome lies between D15S122 and D15S113

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    Greger, V.; Lalande, M. [Harvard Medical School, Boston, MA (United States); Reis, A. [Free Univ., Berlin (Germany)

    1994-12-01

    This {open_quotes}Rapid Publication{close_quotes} present the results of analysis of previously described patients with newly developed microsatellite markers. The markers redefine and considerably reduce the critical deletion region on chromosome 15 which is involved in the manifestations of Angelman syndrome (AS). The findings reduce the smallest region of deletion overlap for AS from 1 Mb to approximately 0.3 Mb and will permit a more focused search for the defects causing the disorder. 11 refs., 1 fig.

  12. Long-range mapping and construction of a YAC contig within the cat eye syndrome critical region.

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    McDermid, H E; McTaggart, K E; Riazi, M A; Hudson, T J; Budarf, M L; Emanuel, B S; Bell, C J

    1996-12-01

    Cat eye syndrome (CES) is typically associated with a supernumerary bisatellited marker chromosome derived from human chromosome 22pter to 22q11.2. The region of 22q duplicated in the typical CES marker chromosome extends between the centromere and locus D22S36. We have constructed a long-range restriction map of this region using pulsed-field gel electrophoresis and probes to 10 loci (11 probes). The map covers -3.6 Mb. We have also used 15 loci to construct a yeast artificial chromosome contig, which encompasses about half of the region critical to the production of the CES phenotype (centromere to D22S57). Thus, the CES critical region has been mapped and a substantial portion of it cloned in preparation for the isolation of genes in this region.

  13. Mapping the Wolf-Hirschhorn syndrome phenotype outside the currently accepted WHS critical region and defining a new critical region, WHSCR-2.

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    Zollino, Marcella; Lecce, Rosetta; Fischetto, Rita; Murdolo, Marina; Faravelli, Francesca; Selicorni, Angelo; Buttè, Cinzia; Memo, Luigi; Capovilla, Giuseppe; Neri, Giovanni

    2003-03-01

    In an attempt to define the distinctive Wolf-Hirschhorn syndrome (WHS) phenotype, and to map its specific clinical manifestations, a total of eight patients carrying a 4p16.3 microdeletion were analyzed for their clinical phenotype and their respective genotypes. The extent of each individual deletion was established by fluorescence in situ hybridization, with a cosmid contig spanning the genomic region from MSX1 (distal half of 4p16.1) to the subtelomeric locus D4S3359. The deletions were 1.9-3.5 Mb, and all were terminal. All the patients presented with a mild phenotype, in which major malformations were usually absent. It is worth noting that head circumference was normal for height in two patients (those with the smallest deletions [1.9 and 2.2 Mb]). The currently accepted WHS critical region (WHSCR) was fully preserved in the patient with the 1.9-Mb deletion, in spite of a typical WHS phenotype. The deletion in this patient spanned the chromosome region from D4S3327 (190 b4 cosmid clone included) to the telomere. From a clinical point of view, the distinctive WHS phenotype is defined by the presence of typical facial appearance, mental retardation, growth delay, congenital hypotonia, and seizures. These signs represent the minimal diagnostic criteria for WHS. This basic phenotype maps distal to the currently accepted WHSCR. Here, we propose a new critical region for WHS, and we refer to this region as "WHSCR-2." It falls within a 300-600-kb interval in 4p16.3, between the loci D4S3327 and D4S98-D4S168. Among the candidate genes already described for WHS, LETM1 (leucine zipper/EF-hand-containing transmembrane) is likely to be pathogenetically involved in seizures. On the basis of genotype-phenotype correlation analysis, dividing the WHS phenotype into two distinct clinical entities, a "classical" and a "mild" form, is recommended for the purpose of proper genetic counseling.

  14. Long-range mapping and construction of a YAC contig within the cat eye syndrome critical region

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    Riazi, M.A.; Mears, A.J.; McDermid, H.E. [Univ. of Alberta (Canada)] [and others

    1994-09-01

    Cat eye syndrome is characterized cytogenetically by the presence of a supernumerary marker chromosome derived from duplicated regions of 22pter-22q11.2. In order to study this syndrome, we have mapped and cloned within the CES critical region (CESCR) in 22q11.2. A long-range map was constructed using probes previously mapped to the CESCR by somatic cell hybrids. The map spans from probes LN63 to D22S36 and covers approximately 3 Mb. Probes within the region were used to isolate YACs, producing a contig of approximately 1.5 Mb (cLN63-D22S57). DNA studies of a cat eye patient with an unusual marker chromosome refined the minimal critical region proximal to D22S57, indicating that most of the CESCR is now cloned. The physical map will allow us to further delineate the CESCR and isolate genes in the region. Towards this end, we have performed {open_quotes}exon-trapping{close_quotes}on a cosmid, CN63, in this region. A 250 bp exon was isolated which maps to the CESCR and has no homology in GenBank. Further characterization of the gene containing this exon is in progress.

  15. A YAC contig encompassing the Treacher Collins syndrome critical region at 5q31. 3-32

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    Dixon, J.; Gladwin, A.J.; Perveen, R.; Dixon, M.J. (Univ. of Manchester (United Kingdom)); Loftus, S.K.; Wasmuth, J.J. (Univ. of California, Irvine, CA (United States)); Riley, J.H.; Anand, R.

    1994-08-01

    Treacher Collins syndrome (TCOF1) is an autosomal dominant disorder of craniofacial development the features of which include conductive hearing loss and cleft palate. Previous studies have localized the TCOF1 locus between D5S519 (proximal) and SPARC (distal), a region of 22 centirays as estimated by radiation hybrid mapping. In the current investigation the authors have created a contig across the TCOF1 critical region, using YAC clones. Isolation of a novel short tandem repeat polymorphism corresponding to the end of one of the YACs has allowed reduction of the size of the critical region to [approximately] 840 kb, which has been covered with three nonchimeric YACs. Restriction mapping has revealed that the region contains a high density of clustered rare-cutter restriction sites, suggesting that it may contain a number of different genes. The results of the present investigation have further allowed confirmation that the RPS14 locus lies proximal to the critical region and can thereby be excluded from a role in the pathogenesis of TCOF1, while ANX6 lies within the TCOF1 critical region and remains a potential candidate for the mutated gene. 26 refs., 4 figs., 1 tab.

  16. Chromosome 4q deletion syndrome: narrowing the cardiovascular critical region to 4q32.2-q34.3.

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    Xu, Wenbo; Ahmad, Ayesha; Dagenais, Susan; Iyer, Ramaswamy K; Innis, Jeffrey W

    2012-03-01

    The 4q deletion syndrome is a rare chromosome deletion syndrome with a wide range of clinical phenotypes. There is limited clinical phenotype and molecular correlation for congenital heart defects (CHDs) reported so far for this region primarily because many cases are large deletions, often terminal, and because high-resolution array has not been reported in the evaluation of this group of patients. CHDs are reported in about 60% of patients with 4q deletion syndrome, occurring in the presence or absence of dHAND deletion, implying the existence of additional genes in 4q whose dosage influences cardiac development. We report an 8-month-old patient with a large mid-muscular to outlet ventricular septal defect (VSD), moderate-sized secundum-type atrial septal defect (ASD), thickened, dysplastic pulmonary valve with mild stenosis and moderate pulmonic regurgitation, and patent ductus arteriosus (PDA). Illumina CytoSNP array analysis disclosed a de novo, heterozygous, interstitial deletion of 11.6 Mb of genomic material from the long arm of chromosome 4, at 4q32.3-q34.3 (Chr4:167236114-178816031; hg18). The deleted region affects 37 RefSeq genes (hg18), including two provisional microRNA stemloops. Three genes in this region, namely TLL1 (Tolloid-like-1), HPGD (15-hydroxyprostaglandin dehydrogenase), and HAND2 (Heart and neural crest derivatives-expressed protein 2), are known to be involved in cardiac morphogenesis. This report narrows the critical region responsible for CHDs seen in 4q deletion syndrome. Copyright © 2012 Wiley Periodicals, Inc.

  17. Rare de novo inversion-duplication case with pure 3qter duplication syndrome including an overlap of the dup(3q) critical region: A case report.

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    Imataka, George; Watabe, Yoshiyuki; Kajitani, Sayuri; Watanabe, Shun; Ichikawa, Junko; Drago, Fabrizio; Suzumura, Hiroshi; Yoshihara, Shigemi

    2017-06-01

    We report here a very rare case of de novo inversion-duplication chromosomal abnormality with a pure 3qter duplication syndrome. Interestingly, the 3q duplication includes an overlap of the syndromes critical region. Although there have only been 9 cases of this syndrome reported in the past, our patient had more severe neurological abnormalities than anticipated. In this regard, we have gathered the 3q chromosomal duplication abnormalities known to cause pure 3q duplication syndrome to date as a reference for comparisons and we discuss the particulars of our case.

  18. A 600 kb triplication in the cat eye syndrome critical region causes anorectal, renal and preauricular anomalies in a three-generation family

    NARCIS (Netherlands)

    J. Knijnenburg (Jeroen); Y. van Bever (Yolande); L.O. Hulsman (Lorette ); C. van Kempen (Chantal); G.M. Bolman (Galhana); R.L.E. van Loon (Rosa Laura); H.B. Beverloo (Berna); L.J.C.M. van Zutven (Laura)

    2012-01-01

    textabstractCat eye syndrome (CES) is caused by a gain of the proximal part of chromosome 22. Usually, a supernumerary marker chromosome is present, containing two extra copies of the chromosome 22q11.1q11.21 region. More sporadically, the gain is present intrachromosomally. The critical region for

  19. Critical Environmental Regions

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    VICTOR SOROCOVSCHI

    2005-01-01

    Full Text Available A short etymological interpretation of the notion of regions (Rette Lineatte, etc.. The region is: R= f (S+P, where S is space and P is power. There follows an evaluation of the characteristics of the region and the presentation of different approaches to the region. From the classic ideas (von Humboldt, 1885, Dokuceaev, 1899, Herbertson, 1905, and others we get to a wide interpretative array of what we accept as organizational spatial units of geographical reality. The environmental region has important connotations with regard to the system as a surrounded element (man, society and the adjacent system. Critical environmental regions are areas where there already exists interactive degradation. The critical character may be physical, hence the “geocritical regions” or the result of human impact, hence the “anthropocritical regions.” Critical situations are differentiated at the local, regional, and global level. In order to understand critical regional situations we must refer to the following characteristics: fragility, resilience, and vulnerability. Still there are few environmental studies on critical regions and work must be done in this field.

  20. Down syndrome critical region 2 protein inhibits the transcriptional activity of peroxisome proliferator-activated receptor β in HEK293 cells

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    Song, Hae Jin; Park, Joongkyu; Seo, Su Ryeon; Kim, Jongsun; Paik, Seung R.; Chung, Kwang Chul

    2008-01-01

    Down syndrome is mainly caused by a trisomy of chromosome 21. The Down syndrome critical region 2 (DSCR2) gene is located within a part of chromosome 21, the Down syndrome critical region (DSCR). To investigate the function of DSCR2, we sought to identify DSCR2-interacting proteins using yeast two-hybrid assays. A human fetal brain cDNA library was screened, and DSCR2 was found to interact with a member of the nuclear receptor superfamily, peroxisome proliferator-activated receptor β, (PPARβ). A co-immunoprecipitation assay demonstrated that DSCR2 physically interacts with PPARβ in mammalian HEK293 cells. DSCR2 also inhibited the ligand-induced transcriptional activity of PPARβ. Furthermore, PPARβ also decreased the solubility of DSCR2, which increased levels of insoluble DSCR2

  1. A 1.5-Mb contig within the cat eye syndrome critical region at human chromosome 22q11.2.

    Science.gov (United States)

    Johnson, A; Minoshima, S; Asakawa, S; Shimizu, N; Shizuya, H; Roe, B A; McDermid, H E

    1999-04-15

    We have constructed a 1.5-Mb contig spanning the distal half of the critical region for cat eye syndrome on human chromosome 22 from D22S543 to D22S181. The contig consists of 20 P1 artificial chromosome (PAC) clones and 11 bacterial artificial chromosome (BAC) clones screened from 2 BAC and 2 PAC libraries. Continuous overlap between the clones was confirmed using vectorette PCR and riboprobes. Despite the instability of this region in a previous YAC contig, only 1 BAC showed a minor instability and then in only one isolation. This contig is now providing the basis for genomic sequencing and gene identification in the cat eye syndrome critical region. Copyright 1999 Academic Press.

  2. A Paternally Inherited Duplication in the Prader-Willi/Angelman Syndrome Critical Region: A Case and Family Study

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    Veltman, Marijcke W. M.; Thompson, Russell J.; Craig, Ellen E.; Dennis, Nicholas R.; Roberts, Sian E.; Moore, Vanessa; Brown, Josie A.; Bolton, Patrick F.

    2005-01-01

    The Prader-Willi/Angelman Critical Region (PWACR; Chromosome 15q11-13) is of interest as a potential locus for genes conferring susceptibility to autism spectrum disorders (ASD). This report describes a female proband referred for evaluation of a possible ASD. Genetic analyses indicated that the proband, her father and one of her sisters, carried…

  3. A 600 kb triplication in the cat eye syndrome critical region causes anorectal, renal and preauricular anomalies in a three-generation family.

    Science.gov (United States)

    Knijnenburg, Jeroen; van Bever, Yolande; Hulsman, Lorette O M; van Kempen, Chantal A P; Bolman, Galhana M; van Loon, Rosa Laura E; Beverloo, H Berna; van Zutven, Laura J C M

    2012-09-01

    Cat eye syndrome (CES) is caused by a gain of the proximal part of chromosome 22. Usually, a supernumerary marker chromosome is present, containing two extra copies of the chromosome 22q11.1q11.21 region. More sporadically, the gain is present intrachromosomally. The critical region for CES is currently estimated to be about 2.1 Mb and to contain at least 14 RefSeq genes. Gain of this region may cause ocular coloboma, preauricular, anorectal, urogenital and congenital heart malformations. We describe a family in which a 600 kb intrachromosomal triplication is present in at least three generations. The copy number alteration was detected using MLPA and further characterized with interphase and metaphase FISH and SNP-array. The amplified fragment is located in the distal part of the CES region. The family members show anal atresia and preauricular tags or pits, matching part of the phenotype of this syndrome. This finding suggests that amplification of the genes CECR2, SLC25A18 and ATP6V1E1, mapping within the critical region for CES, may be responsible for anorectal, renal and preauricular anomalies in patients with CES.

  4. Complex Regional Pain Syndrome

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    ... 40. It is uncommon in children and rare in the elderly. How is complex regional pain syndrome diagnosed? Your ... Mental Health Sex and Birth Control Sex and Sexuality Birth Control Family ... Men Seniors In The News Your Health Resources Healthcare Management End- ...

  5. Genes in a Refined Smith-Magenis Syndrome Critical Deletion Interval on Chromosome 17p11.2 and the Syntenic Region of the Mouse

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    Bi, Weimin; Yan, Jiong; Stankiewicz, Paweł; Park, Sung-Sup; Walz, Katherina; Boerkoel, Cornelius F.; Potocki, Lorraine; Shaffer, Lisa G.; Devriendt, Koen; Nowaczyk, Małgorzata J.M.; Inoue, Ken; Lupski, James R.

    2002-01-01

    Smith-Magenis syndrome (SMS) is a multiple congenital anomaly/mental retardation syndrome associated with behavioral abnormalities and sleep disturbance. Most patients have the same ∼4 Mb interstitial genomic deletion within chromosome 17p11.2. To investigate the molecular bases of the SMS phenotype, we constructed BAC/PAC contigs covering the SMS common deletion interval and its syntenic region on mouse chromosome 11. Comparative genome analysis reveals the absence of all three ∼200-kb SMS-REP low-copy repeats in the mouse and indicates that the evolution of SMS-REPs was accompanied by transposition of adjacent genes. Physical and genetic map comparisons in humans reveal reduced recombination in both sexes. Moreover, by examining the deleted regions in SMS patients with unusual-sized deletions, we refined the minimal Smith-Magenis critical region (SMCR) to an ∼1.1-Mb genomic interval that is syntenic to an ∼1.0-Mb region in the mouse. Genes within the SMCR and its mouse syntenic region were identified by homology searches and by gene prediction programs, and their gene structures and expression profiles were characterized. In addition to 12 genes previously mapped, we identified 8 new genes and 10 predicted genes in the SMCR. In the mouse syntenic region of the human SMCR, 16 genes and 6 predicted genes were identified. The SMCR is highly conserved between humans and mice, including 19 genes with the same gene order and orientation. Our findings will facilitate both the identification of gene(s) responsible for the SMS phenotype and the engineering of an SMS mouse model. PMID:11997338

  6. Complex regional pain syndrome

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    Sandeep J Sebastin

    2011-01-01

    Full Text Available Complex regional pain syndrome (CRPS previously known as reflex sympathetic dystrophy is a chronic neurological disorder involving the limbs characterized by disabling pain, swelling, vasomotor instability, sudomotor abnormality, and impairment of motor function. CRPS is not uncommon after hand surgery and may complicate post-operative care. There is no specific diagnostic test for CRPS and the diagnosis is based on history, clinical examination, and supportive laboratory findings. Recent modifications to diagnostic criteria have enabled clinicians to diagnose this disease more consistently. This review gives a synopsis of CRPS and discusses the diagnosis, pathophysiology, and treatment options based on the limited evidence in the literature.

  7. Engineered chromosome-based genetic mapping establishes a 3.7 Mb critical genomic region for Down syndrome-associated heart defects in mice.

    Science.gov (United States)

    Liu, Chunhong; Morishima, Masae; Jiang, Xiaoling; Yu, Tao; Meng, Kai; Ray, Debjit; Pao, Annie; Ye, Ping; Parmacek, Michael S; Yu, Y Eugene

    2014-06-01

    Trisomy 21 (Down syndrome, DS) is the most common human genetic anomaly associated with heart defects. Based on evolutionary conservation, DS-associated heart defects have been modeled in mice. By generating and analyzing mouse mutants carrying different genomic rearrangements in human chromosome 21 (Hsa21) syntenic regions, we found the triplication of the Tiam1-Kcnj6 region on mouse chromosome 16 (Mmu16) resulted in DS-related cardiovascular abnormalities. In this study, we developed two tandem duplications spanning the Tiam1-Kcnj6 genomic region on Mmu16 using recombinase-mediated genome engineering, Dp(16)3Yey and Dp(16)4Yey, spanning the 2.1 Mb Tiam1-Il10rb and 3.7 Mb Ifnar1-Kcnj6 regions, respectively. We found that Dp(16)4Yey/+, but not Dp(16)3Yey/+, led to heart defects, suggesting the triplication of the Ifnar1-Kcnj6 region is sufficient to cause DS-associated heart defects. Our transcriptional analysis of Dp(16)4Yey/+ embryos showed that the Hsa21 gene orthologs located within the duplicated interval were expressed at the elevated levels, reflecting the consequences of the gene dosage alterations. Therefore, we have identified a 3.7 Mb genomic region, the smallest critical genomic region, for DS-associated heart defects, and our results should set the stage for the final step to establish the identities of the causal gene(s), whose elevated expression(s) directly underlie this major DS phenotype.

  8. Complex regional pain syndrome

    Science.gov (United States)

    CRPS; RSDS; Causalgia - RSD; Shoulder-hand syndrome; Reflex sympathetic dystrophy syndrome; Sudeck atrophy; Pain - CRPS ... In: Cifu DX, ed. Braddom's Physical Medicine and Rehabilitation . 5th ed. Philadelphia, PA: Elsevier; 2016:chap 37.

  9. Prader-Willi Critical Region, a Non-Translated, Imprinted Central Regulator of Bone Mass: Possible Role in Skeletal Abnormalities in Prader-Willi Syndrome.

    Directory of Open Access Journals (Sweden)

    Ee-Cheng Khor

    Full Text Available Prader-Willi Syndrome (PWS, a maternally imprinted disorder and leading cause of obesity, is characterised by insatiable appetite, poor muscle development, cognitive impairment, endocrine disturbance, short stature and osteoporosis. A number of causative loci have been located within the imprinted Prader-Willi Critical Region (PWCR, including a set of small non-translated nucleolar RNA's (snoRNA. Recently, micro-deletions in humans identified the snoRNA Snord116 as a critical contributor to the development of PWS exhibiting many of the classical symptoms of PWS. Here we show that loss of the PWCR which includes Snord116 in mice leads to a reduced bone mass phenotype, similar to that observed in humans. Consistent with reduced stature in PWS, PWCR KO mice showed delayed skeletal development, with shorter femurs and vertebrae, reduced bone size and mass in both sexes. The reduction in bone mass in PWCR KO mice was associated with deficiencies in cortical bone volume and cortical mineral apposition rate, with no change in cancellous bone. Importantly, while the length difference was corrected in aged mice, consistent with continued growth in rodents, reduced cortical bone formation was still evident, indicating continued osteoblastic suppression by loss of PWCR expression in skeletally mature mice. Interestingly, deletion of this region included deletion of the exclusively brain expressed Snord116 cluster and resulted in an upregulation in expression of both NPY and POMC mRNA in the arcuate nucleus. Importantly, the selective deletion of the PWCR only in NPY expressing neurons replicated the bone phenotype of PWCR KO mice. Taken together, PWCR deletion in mice, and specifically in NPY neurons, recapitulates the short stature and low BMD and aspects of the hormonal imbalance of PWS individuals. Moreover, it demonstrates for the first time, that a region encoding non-translated RNAs, expressed solely within the brain, can regulate bone mass in health

  10. Korsakoff's syndrome: A critical review

    NARCIS (Netherlands)

    Arts, N.J.M.; Walvoort, S.J.W.; Kessels, R.P.C.

    2017-01-01

    In this review, we present a survey on Korsakoff's syndrome (KS), a residual syndrome in patients who suffered from a Wernicke encephalopathy (WE) that is predominantly characterized by global amnesia, and in more severe cases also by cognitive and behavioral dysfunction. We describe the history of

  11. Analysis of the cat eye syndrome critical region in humans and the region of conserved synteny in mice: a search for candidate genes at or near the human chromosome 22 pericentromere.

    Science.gov (United States)

    Footz, T K; Brinkman-Mills, P; Banting, G S; Maier, S A; Riazi, M A; Bridgland, L; Hu, S; Birren, B; Minoshima, S; Shimizu, N; Pan, H; Nguyen, T; Fang, F; Fu, Y; Ray, L; Wu, H; Shaull, S; Phan, S; Yao, Z; Chen, F; Huan, A; Hu, P; Wang, Q; Loh, P; Qi, S; Roe, B A; McDermid, H E

    2001-06-01

    We have sequenced a 1.1-Mb region of human chromosome 22q containing the dosage-sensitive gene(s) responsible for cat eye syndrome (CES) as well as the 450-kb homologous region on mouse chromosome 6. Fourteen putative genes were identified within or adjacent to the human CES critical region (CESCR), including three known genes (IL-17R, ATP6E, and BID) and nine novel genes, based on EST identity. Two putative genes (CECR3 and CECR9) were identified, in the absence of EST hits, by comparing segments of human and mouse genomic sequence around two solitary amplified exons, thus showing the utility of comparative genomic sequence analysis in identifying transcripts. Of the 14 genes, 10 were confirmed to be present in the mouse genomic sequence in the same order and orientation as in human. Absent from the mouse region of conserved synteny are CECR1, a promising CES candidate gene from the center of the contig, neighboring CECR4, and CECR7 and CECR8, which are located in the gene-poor proximal 400 kb of the contig. This latter proximal region, located approximately 1 Mb from the centromere, shows abundant duplicated gene fragments typical of pericentromeric DNA. The margin of this region also delineates the boundary of conserved synteny between the CESCR and mouse chromosome 6. Because the proximal CESCR appears abundant in duplicated segments and, therefore, is likely to be gene poor, we consider the putative genes identified in the distal CESCR to represent the majority of candidate genes for involvement in CES.

  12. Complex regional pain syndrome (CRPS

    Directory of Open Access Journals (Sweden)

    Dijana Avdic

    2015-04-01

    Full Text Available Complex regional pain syndrome (CRPS, once known as reflex sympathetic dystrophy, Sudeck's dystrophy and causalgia, is a pain syndrome with indistinctive pathophysiology and unpredictable clinical course. CRPS can develop after a limb fracture, injury or damage to the peripheral or central nervous system. The diagnosis of CRPS is based on the signs and symptoms obtained from the medical history and physical examination. The disease is often resistant to treatment, and its course is not always favorable. A brief overview of this clinical entity is presented, and most relevant and up-to-date information is discussed.

  13. WHSC1, a 90 kb SET domain-containing gene, expressed in early development and homologous to a Drosophila dysmorphy gene maps in the Wolf-Hirschhorn syndrome critical region and is fused to IgH in t(4;14) multiple myeloma

    NARCIS (Netherlands)

    Stec, I.; Wright, T. J.; van Ommen, G. J.; de Boer, P. A.; van Haeringen, A.; Moorman, A. F.; Altherr, M. R.; den Dunnen, J. T.

    1998-01-01

    Wolf-Hirschhorn syndrome (WHS) is a malformation syndrome associated with a hemizygous deletion of the distal short arm of chromosome 4 (4p16.3). The smallest region of overlap between WHS patients, the WHS critical region, has been confined to 165 kb, of which the complete sequence is known. We

  14. A large-scale survey of the novel 15q24 microdeletion syndrome in autism spectrum disorders identifies an atypical deletion that narrows the critical region

    Directory of Open Access Journals (Sweden)

    McInnes L

    2010-03-01

    Full Text Available Abstract Background The 15q24 microdeletion syndrome has been recently described as a recurrent, submicroscopic genomic imbalance found in individuals with intellectual disability, typical facial appearance, hypotonia, and digital and genital abnormalities. Gene dosage abnormalities, including copy number variations (CNVs, have been identified in a significant fraction of individuals with autism spectrum disorders (ASDs. In this study we surveyed two ASD cohorts for 15q24 abnormalities to assess the frequency of genomic imbalances in this interval. Methods We screened 173 unrelated subjects with ASD from the Central Valley of Costa Rica and 1336 subjects with ASD from 785 independent families registered with the Autism Genetic Resource Exchange (AGRE for CNVs across 15q24 using oligonucleotide arrays. Rearrangements were confirmed by array comparative genomic hybridization and quantitative PCR. Results Among the patients from Costa Rica, an atypical de novo deletion of 3.06 Mb in 15q23-q24.1 was detected in a boy with autism sharing many features with the other 13 subjects with the 15q24 microdeletion syndrome described to date. He exhibited intellectual disability, constant smiling, characteristic facial features (high anterior hairline, broad medial eyebrows, epicanthal folds, hypertelorism, full lower lip and protuberant, posteriorly rotated ears, single palmar crease, toe syndactyly and congenital nystagmus. The deletion breakpoints are atypical and lie outside previously characterized low copy repeats (69,838-72,897 Mb. Genotyping data revealed that the deletion had occurred in the paternal chromosome. Among the AGRE families, no large 15q24 deletions were observed. Conclusions From the current and previous studies, deletions in the 15q24 region represent rare causes of ASDs with an estimated frequency of 0.1 to 0.2% in individuals ascertained for ASDs, although the proportion might be higher in sporadic cases. These rates compare with a

  15. A Novel Mutation in a Critical Region for the Methyl Donor Binding in DNMT3B Causes Immunodeficiency, Centromeric Instability, and Facial Anomalies Syndrome (ICF).

    Science.gov (United States)

    Rechavi, Erez; Lev, Atar; Eyal, Eran; Barel, Ortal; Kol, Nitzan; Barhom, Sarit Farage; Pode-Shakked, Ben; Anikster, Yair; Somech, Raz; Simon, Amos J

    2016-11-01

    Immunodeficiency, centromeric instability, and facial anomalies (ICF) syndrome is an extremely rare autosomal recessive disease. The immune phenotype is characterized by hypogammaglobulinemia in the presence of B cells. T cell lymphopenia also develops in some patients. We sought to further investigate the immune defect in an ICF patient with a novel missense mutation in DNMT3B and a severe phenotype. Patient lymphocytes were examined for subset counts, immunoglobulin levels, T and B cell de novo production (via excision circles) and receptor repertoire diversity. Mutated DNMT3B protein structure was modeled to assess the effect of a mutation located outside of the catalytic region on protein function. A novel homozygous missense mutation, Ala585Thr, was found in DNMT3B. The patient had decreased B cell counts with hypogammaglobulinemia, and normal T cell counts. CD4 + T cells decreased over time, leading to an inversion of the CD4 + to CD8 + ratio. Excision circle copy numbers were normal, signifying normal de novo lymphocyte production, but the ratio between naïve and total B cells was low, indicating decreased in vivo B cell replication. T and B cell receptor repertoires displayed normal diversity. Computerized modeling of the mutated Ala585 residue suggested reduced thermostability, possibly affecting the enzyme kinetics. Our results highlight the existence of a T cell defect that develops over time in ICF patient, in addition to the known B cell dysfunction. With intravenous immunoglobulin (IVIG) treatment ameliorating the B cell defect, the extent of CD4 + lymphopenia may determine the severity of ICF immunodeficiency.

  16. Construction of a natural panel of 11p11.2 deletions and further delineation of the critical region involved in Potocki-Shaffer syndrome.

    Science.gov (United States)

    Wakui, Keiko; Gregato, Giuliana; Ballif, Blake C; Glotzbach, Caron D; Bailey, Kristen A; Kuo, Pao-Lin; Sue, Whui-Chen; Sheffield, Leslie J; Irons, Mira; Gomez, Enrique G; Hecht, Jacqueline T; Potocki, Lorraine; Shaffer, Lisa G

    2005-05-01

    Potocki-Shaffer syndrome (PSS) is a contiguous gene deletion syndrome that results from haploinsufficiency of at least two genes within the short arm of chromosome 11[del(11)(p11.2p12)]. The clinical features of PSS can include developmental delay, mental retardation, multiple exostoses, parietal foramina, enlarged anterior fontanel, minor craniofacial anomalies, ophthalmologic anomalies, and genital abnormalities in males. We constructed a natural panel of 11p11.2-p13 deletions using cell lines from 10 affected individuals, fluorescence in situ hybridization (FISH), microsatellite analyses, and array-based comparative genomic hybridization (array CGH). We then compared the deletion sizes and clinical features between affected individuals. The full spectrum of PSS manifests when deletions are at least 2.1 Mb in size, spanning from D11S1393 to D11S1385/D11S1319 (44.6-46.7 Mb from the 11p terminus) and encompassing EXT2, responsible for multiple exostoses, and ALX4, causing parietal foramina. Yet one subject with parietal foramina whose deletion does not include ALX4 indicates that ALX4 in this subject may be rendered functionally haploinsufficient by a position effect. Based on comparative deletion mapping of eight individuals with the full PSS syndrome including mental retardation and two PSS families with no mental retardation, at least one gene related to mental retardation is likely located between D11S554 and D11S1385/D11S1319, 45.6-46.7 Mb from the 11p terminus.

  17. Regional analgesia in postsurgical critically ill patients.

    Science.gov (United States)

    Moliner Velázquez, S; Rubio Haro, R; De Andrés Serrano, C; De Andrés Ibáñez, J

    2017-03-01

    Regional analgesia intrinsically, based on its physiological effects, is routinely used for the perioperative treatment of pain associated with surgical procedures. However, in other areas such as the non-surgical treatment of acute pain for patients in a critical condition, it has not been subjected to specific prospective studies. If we confine ourselves to the physiological effects of the nerve block, in a situation of stress, the indications for regional anaesthesia in this group of patients extend to the management of a wide variety of medical as well as postsurgical conditions, of trauma patients and of other painful procedures performed in the patient's bed. The critical patient certainly must be analyzed individually as their own primary conditions is of vital importance, as well as any associated conditions they have developed that can potentially increase the risk of systemic toxicity or morbidity, such as, coagulopathies, infection, immunosuppressive states, sedation and problems associated with mechanical ventilation. This review aims to assess the role of regional analgesia in critically ill patients, placing it within the algorithm decision tree of the professional responsible for patients in critical care units, all based on the evidence of potential benefits according to the published literature. Copyright © 2016 Sociedad Española de Anestesiología, Reanimación y Terapéutica del Dolor. Publicado por Elsevier España, S.L.U. All rights reserved.

  18. The App-Runx1 region is critical for birth defects and electrocardiographic dysfunctions observed in a Down syndrome mouse model.

    Directory of Open Access Journals (Sweden)

    Matthieu Raveau

    2012-05-01

    Full Text Available Down syndrome (DS leads to complex phenotypes and is the main genetic cause of birth defects and heart diseases. The Ts65Dn DS mouse model is trisomic for the distal part of mouse chromosome 16 and displays similar features with post-natal lethality and cardiovascular defects. In order to better understand these defects, we defined electrocardiogram (ECG with a precordial set-up, and we found conduction defects and modifications in wave shape, amplitudes, and durations in Ts65Dn mice. By using a genetic approach consisting of crossing Ts65Dn mice with Ms5Yah mice monosomic for the App-Runx1 genetic interval, we showed that the Ts65Dn viability and ECG were improved by this reduction of gene copy number. Whole-genome expression studies confirmed gene dosage effect in Ts65Dn, Ms5Yah, and Ts65Dn/Ms5Yah hearts and showed an overall perturbation of pathways connected to post-natal lethality (Coq7, Dyrk1a, F5, Gabpa, Hmgn1, Pde10a, Morc3, Slc5a3, and Vwf and heart function (Tfb1m, Adam19, Slc8a1/Ncx1, and Rcan1. In addition cardiac connexins (Cx40, Cx43 and sodium channel sub-units (Scn5a, Scn1b, Scn10a were found down-regulated in Ts65Dn atria with additional down-regulation of Cx40 in Ts65Dn ventricles and were likely contributing to conduction defects. All these data pinpoint new cardiac phenotypes in the Ts65Dn, mimicking aspects of human DS features and pathways altered in the mouse model. In addition they highlight the role of the App-Runx1 interval, including Sod1 and Tiam1, in the induction of post-natal lethality and of the cardiac conduction defects in Ts65Dn. These results might lead to new therapeutic strategies to improve the care of DS people.

  19. Cri du chat syndrome: a critical review.

    Science.gov (United States)

    Rodríguez-Caballero, Angela; Torres-Lagares, Daniel; Rodríguez-Pérez, Antonio; Serrera-Figallo, María-Angeles; Hernández-Guisado, José-María; Machuca-Portillo, Guillermo

    2010-05-01

    A new syndrome was identified in 1963, when Lejeune et al. reported a genetic disease resulting from a partial or total deletion on the short arm of chromosome 5 (5p-) and named it the cri du chat syndrome (CdCS). This term makes reference to the main clinical feature of the syndrome, a high-pitched monochromatic cat-like crying, that usually disappears in the first years of life. CdCS is one of the most common chromosomal deletion syndromes in humans, with an incidence of 1:15.000-1:50.000 live-births. Our purpose was to review different aspects of this syndrome (concept, epidemiology, aetiology, clinical features, diagnostic methods and prognosis) emphasizing both: the breakthrough in this field introduced by new cytogenetic and molecular techniques, and the orofacial manifestations most frequently reported. The main orofacial anomalies registered were mandibular microretrognathia, high palate but rarely cleft, variable malocclusion (frequently anterior open-bite), enamel hypoplasia, poor oral hygiene, generalized chronic periodontitis, and retardation of tooth eruption, although there is not enough evidence to support any clear association between these pathologies and the CdCS.

  20. Medial tibial stress syndrome: a critical review

    NARCIS (Netherlands)

    Moen, Maarten H.; Tol, Johannes L.; Weir, Adam; Steunebrink, Miriam; de Winter, Theodorus C.

    2009-01-01

    Medial tibial stress syndrome (MTSS) is one of the most common leg injuries in athletes and soldiers. The incidence of MTSS is reported as being between 4% and 35% in military personnel and athletes. The name given to this condition refers to pain on the posteromedial tibial border during exercise,

  1. COMPLEX REGIONAL PAIN SYNDROME IN CHILDREN

    Directory of Open Access Journals (Sweden)

    Milan Špegel

    2002-01-01

    Full Text Available Background. In children with unexplained pain in distal part of extremity associated with edema, abnormal skin color, temperature change, complex regional pain syndrome (CRPS must be considered. This pain syndrome requires the presence of regional pain and sensory changes associated with abnormal skin color, temperature change, abnormal sudomotor activity or edema. Signs and symptoms are disproportionate to the inciting event. There are two types of CRPS: type I occurs without a definable nerve lesion and type II, where a definable nerve lesion is present. Diagnosis is clinical.Conclusions. CRPS is not yet suspected in children, those affected often have many unnecessary investigations and may be unsuitable treated and also overtreated.

  2. Regional cerebral blood flow in Angelman syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Guecueyener, K. (Dept. of Pediatric Neurology, Faculty of Medicine, Gazi Univ., Ankara (Turkey)); Goekcora, N. (Dept. of Nuclear Medicine, Faculty of Medicine, Gazi Univ., Ankara (Turkey)); Ilgin, N. (Dept. of Nuclear Medicine, Faculty of Medicine, Gazi Univ., Ankara (Turkey)); Buyan, N. (Dept. of Pediatric Neurology, Faculty of Medicine, Gazi Univ., Ankara (Turkey)); Sayli, A. (Dept. of Molecular Biology and Genetics, Faculty of Medicine, Gazi Univ., Ankara (Turkey))

    1993-07-01

    A patient with typical features of Angelman syndrome - a genetically inherited disorder involving developmental delay, ataxia, episodes of paroxysmal laughter and brachiocephaly - was studied with single-photon emission tomography. Hyperfusion found in the left frontal and left temporoparietal regions can provide insights into the functional cerebral pathology, which may be due to a disturbance of the developmental process related to a chromosomal abnormality. (orig.)

  3. Korsakoff’s syndrome: a critical review

    Directory of Open Access Journals (Sweden)

    Arts NJM

    2017-11-01

    Full Text Available Nicolaas JM Arts,1,2 Serge JW Walvoort,1 Roy PC Kessels1,3,4 1Centre of Excellence for Korsakoff and Alcohol-Related Cognitive Disorders, Vincent van Gogh Institute for Psychiatry, Venray, 2Neuropsychiatry Center Thalamus, Institution for Integrated Mental Health Care Pro Persona, Wolfheze, 3Department of Neuropsychology and Rehabilitation Psychology, Donders Institute for Brain, Cognition and Behaviour, Radboud University, 4Department of Medical Psychology, Radboud University Medical Center, Nijmegen, the Netherlands Abstract: In this review, we present a survey on Korsakoff’s syndrome (KS, a residual syndrome in patients who suffered from a Wernicke encephalopathy (WE that is predominantly characterized by global amnesia, and in more severe cases also by cognitive and behavioral dysfunction. We describe the history of KS and its definition, its epidemiology, and the lack of consensus criteria for its diagnosis. The cognitive and behavioral symptoms of KS, which include anterograde and retrograde amnesia, executive dysfunction, confabulation, apathy, as well as affective and social-cognitive impairments, are discussed. Moreover, recent insights into the underlying neurocognitive mechanisms of these symptoms are presented. In addition, the evidence so far on the etiology of KS is examined, highlighting the role of thiamine and alcohol and discussing the continuity hypothesis. Furthermore, the neuropathology of KS is reviewed, focusing on abnormalities in the diencephalon, including the mammillary bodies and thalamic nuclei. Pharmacological treatment options and nonpharmacological interventions, such as those based on cognitive rehabilitation, are discussed. Our review shows that thiamine deficiency (TD is a crucial factor in the etiology of KS. Although alcohol abuse is by far the most important context in which TD occurs, there is no convincing evidence for an essential contribution of ethanol neurotoxicity (EN to the development of WE or to

  4. Korsakoff’s syndrome: a critical review

    Science.gov (United States)

    Arts, Nicolaas JM; Walvoort, Serge JW; Kessels, Roy PC

    2017-01-01

    In this review, we present a survey on Korsakoff’s syndrome (KS), a residual syndrome in patients who suffered from a Wernicke encephalopathy (WE) that is predominantly characterized by global amnesia, and in more severe cases also by cognitive and behavioral dysfunction. We describe the history of KS and its definition, its epidemiology, and the lack of consensus criteria for its diagnosis. The cognitive and behavioral symptoms of KS, which include anterograde and retrograde amnesia, executive dysfunction, confabulation, apathy, as well as affective and social-cognitive impairments, are discussed. Moreover, recent insights into the underlying neurocognitive mechanisms of these symptoms are presented. In addition, the evidence so far on the etiology of KS is examined, highlighting the role of thiamine and alcohol and discussing the continuity hypothesis. Furthermore, the neuropathology of KS is reviewed, focusing on abnormalities in the diencephalon, including the mammillary bodies and thalamic nuclei. Pharmacological treatment options and nonpharmacological interventions, such as those based on cognitive rehabilitation, are discussed. Our review shows that thiamine deficiency (TD) is a crucial factor in the etiology of KS. Although alcohol abuse is by far the most important context in which TD occurs, there is no convincing evidence for an essential contribution of ethanol neurotoxicity (EN) to the development of WE or to the progression of WE to KS. Future research on the postmortem histopathological analysis of brain tissues of KS patients is crucial for the advancement of our knowledge of KS, especially for associating its symptoms with lesions in various thalamic nuclei. A necessary requirement for the advancement of studies on KS is the broad acceptance of a comprehensive definition and definite diagnostic criteria. Therefore, in this review, we propose such a definition of KS and draft outlines for prospective diagnostic criteria. PMID:29225466

  5. [Complex regional pain syndrome. Current status].

    Science.gov (United States)

    Díaz-Zuluaga, Paola Andrea; Plancarte-Sánchez, Ricardo; Tamayo-Valenzuela, Antonio César

    2004-01-01

    Complex regional pain syndrome (CRPS) is a disorder or group of disorders that develop as a consequence of previous trauma with or without evident nerve injury. The syndrome is characterized by presence of spontaneous pain, hyperalgesia and allodynia, sensitive changes, blood flow changes, sweating, and trophic changes. The disease is characterized by symptoms of acute inflammatory states as well as by chronic neuropathic changes. Pain is associated with changes generated by the autonomic nervous system. Spinal neurons can increase their sensitivity to these autonomic changes. At a supraspinal level, reorganization of somatosensorial cortex is seen. Creation of diagnostic criteria has been difficult due to the plentiful symptoms of CRSP. Sympathetic blockade with phentolamine is the most commonly approved examination to diagnose sympathetic maintained pain. Several strategies have been used for treatment of CRPS, but with none of these has sufficient evidence of treatment effectiveness been afforded.

  6. Complex regional pain syndrome: A review

    Directory of Open Access Journals (Sweden)

    Ghai Babita

    2004-10-01

    Full Text Available Complex regional pain syndrome (CRPS is a challenging neuropathic pain state, quite difficult to comprehend and treat. Its pathophysiological mechanisms are unclear and its treatment is difficult. Multiple factors play a role in the generation and maintenance of CRPS. A close interdisciplinary collaboration amongst the psychologist, physical and occupational therapists, neurologist and pain medicine consultants is necessary to achieve optimal treatment effects. The primary goals of managing patients with this syndrome are to: 1 perform a comprehensive diagnostic evaluation, 2 be prompt and aggressive in treatment interventions, 3 assess and reassess the patient's clinical and psychological status, 4 be consistently supportive, and 5 strive for the maximal amount of pain relief and functional improvement. This article reviews the different aspects of CRPS including definition, classification, epidemiology and natural history, clinical presentation, pathophysiology and management.

  7. Nutrition support and the chronic critical illness syndrome.

    Science.gov (United States)

    Hollander, Jason M; Mechanick, Jeffrey I

    2006-12-01

    Critical illness can be viewed as consisting of 4 distinct stages: (1) acute critical illness (ACI), (2) prolonged acute critical illness, (3) chronic critical illness, and (4) recovery. ACI represents the evolutionarily programmed response to a stressor. In ACI, substrate is shunted away from anabolism and toward vital organ support and inflammatory proteins. Nutrition support in this stage is unproven and may ultimately prove detrimental. As critical illness progresses, there is no evolutionary precedent, and man owes his life to modern critical care medicine. It is at this point that nutrition and metabolic support become integral to the care of the patient. This paper (1) delineates and develops the 4 stages of critical illness using current evidence, clinical experience, and new hypotheses; (2) defines the chronic critical illness syndrome (CCIS); and (3) details an approach to the metabolic and nutrition support of the chronically critically ill patient using the metabolic model of critical illness as a guide. It is our hope that this clinical model can generate testable hypotheses that can improve the outcome of this unique population of patients.

  8. SATURATED PROPERTIES PREDICTION IN CRITICAL REGION ...

    African Journals Online (AJOL)

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    vapor pressure prediction and saturated volume prediction in vicinity of critical point. KEY WORDS. KEY WORDS: Equation of state, Saturated properties, ..... The AARD between experimental and calculated saturated vapor molar volume given by. Trebble [18] were 5.81, 5.34, 5.08, and 10.62 for SRK, PR, CCOR, and PT, ...

  9. Temporomandibular joint disfunction syndrome and myofascial pain dysfunction syndrome: a critical review.

    Science.gov (United States)

    Moss, R A; Garrett, J C

    1984-01-01

    Temporomandibular joint (TMJ) dysfunction syndrome and myofascial pain dysfunction (MPD) syndrome have been primarily viewed as dental problems and have only recently received close attention by psychologists. The literature reviewed in the present paper reveals that a substantial portion of the population is affected by these disorders. There is, however, a great deal of confusion that exists in relation to the aetiology and treatment of these syndromes. In an attempt to clarify the current understanding of these disorders, the present review first presents a discussion of the symptoms which comprise each of these syndromes and the proposed physiological mechanisms associated with each symptom. Next, the aetiological theories for each of these syndromes are reviewed and critically evaluated. Treatments which have been derived from the theoretical models are then discussed. Finally, methodological considerations involving classification, assessment and treatment issues are presented and future research needs are outlined.

  10. Migrant Cuisine, Critical Regionalism and Gastropoetics

    Directory of Open Access Journals (Sweden)

    Ben Highmore

    2013-02-01

    Full Text Available This essay is based around two sentences from Nadeem Alslam’s 2004 novel Maps for Lost Lovers. From this base comes an exploration of what aesthetics could mean for cultural studies, and what sorts of practices it could foster. The essay argues for the pertinence this may have for the study of food culture, while also taking up the project of ‘critical regionalism’ and ‘gastropoetics’ as a way of moving from the tightly figured frame of a fragment from a novel, to the histories, geographies and affects that impact on it.

  11. Rethinking of Critical Regionalism in High-Rise Buildings

    Directory of Open Access Journals (Sweden)

    Nima Zahiri

    2016-12-01

    Full Text Available The character of height and density of newly high-rise cities, along with the force of globalization, have jeopardized the character of dwellings once entailing a regional flavor. The critical regionalism which serves as a resistant medium against placelessness and lack of identity in the International Style has focused more on mid-rise or low-rise solutions rather than providing direct high-rise resolutions. Additionally, high-rise endeavors are not compatible with critical regionalism theories. This has happened partly due to critical regionalism theories multi-facet character inherent in its dialectic structure. Thus, to remedy the inadvertency of texts in the discourse of architectural regionalism, the present study seeks rethinking of critical regionalism by focusing on the pathology of high-rise buildings in the issues pertaining to place and identity. Finally, the architectonic articulation to place-making and identity-giving is discussed.

  12. Rethinking of Critical Regionalism in High-Rise Buildings

    OpenAIRE

    Nima Zahiri; Omid Dezhdar; Manouchehr Foroutan

    2016-01-01

    The character of height and density of newly high-rise cities, along with the force of globalization, have jeopardized the character of dwellings once entailing a regional flavor. The critical regionalism which serves as a resistant medium against placelessness and lack of identity in the International Style has focused more on mid-rise or low-rise solutions rather than providing direct high-rise resolutions. Additionally, high-rise endeavors are not compatible with critical regionalism theor...

  13. A critical review of regional economic integration in China

    OpenAIRE

    Wang RUI

    2015-01-01

    Under the circumstances of economic globalization, regional economic integration has become the mainstream of current economic development for each country, so China has to pay more attention to it. The critical review on regional economic integration in China can lay a certain foundation and provide experience for the in-depth research. Main contents of regional economic integration are refined according to the previous studies and realities, including the integration of regional economic re...

  14. Saturated properties prediction in critical region by a quartic ...

    African Journals Online (AJOL)

    A diverse substance library containing extensive PVT data for 77 pure components was used to critically evaluate the performance of a quartic equation of state and other four famous cubic equations of state in critical region. The quartic EOS studied in this work was found to significantly superior to the others in both vapor ...

  15. Teaching Critical Thinking in World Regional Geography through Stakeholder Debate

    Science.gov (United States)

    Sziarto, Kristin M.; McCarthy, Linda; Padilla, Nicholas L.

    2014-01-01

    Using a stakeholder debate based on a real-world case of regional construction--that of Turkey's application to join the European Union--improved students' critical thinking in an introductory world regional geography course. Such courses are a staple offering among US geography departments, and often the only exposure of non-majors to geographic…

  16. Submicroscopic duplication of the Wolf-Hirschhorn critical region with a 4p terminal deletion.

    Science.gov (United States)

    Roselló, M; Monfort, S; Orellana, C; Ferrer-Bolufer, I; Quiroga, R; Oltra, S; Martínez, F

    2009-01-01

    Chromosomal rearrangements in the short arm of chromosome 4 can result in 2 different clinical entities: Wolf-Hirschhorn syndrome (WHS), characterized by severe growth delay, mental retardation, microcephaly, 'Greek helmet' facies, and closure defects, or partial 4p trisomy, associated with multiple congenital anomalies, mental retardation, and facial dysmorphisms. We present clinical and laboratory findings in a patient who showed a small duplication in 4p16.3 associated with a subtle terminal deletion in the same chromosomal region. GTG-banding analyses, multiplex ligation-dependent probe amplification analyses, and studies by array-based comparative genomic hybridization were performed. The results of the analyses revealed a de novo 1.3 Mb deletion of the terminal 4p and a 1.1 Mb duplication in our patient, encompassing the WHS critical region. Interestingly, this unusual duplication/deletion rearrangement results in an intermediate phenotype that shares characteristics of the WHS and the 4p trisomy syndrome. The use of novel technologies in the genetic diagnosis leads to the description of new clinical syndromes; there is a growing list of microduplication syndromes. Therefore, we propose that overexpression of candidate genes in WHS (WHSC1, WHSC2 and LETM1) due to a duplication causes a clinical entity different to both the WHS and 4p trisomy syndrome. (c) 2009 S. Karger AG, Basel.

  17. COMPLEX REGIONAL PAIN SYNDROME – CLINIC, DIAGNOSTICS, TREATMENT

    Directory of Open Access Journals (Sweden)

    N. A. Shostak

    2014-07-01

    Full Text Available The problem of pain today remains one of the fundamental issues of medical care. It is known that the pain is the leading cause of treatmentto the doctor. Among pain syndromes, a special place belongs to the complex regional pain syndromes. They are distinguished by the multidisciplinary problem, the presence of explicit nature of the pain, difficulty of diagnosis and nature of the treatment. The article presentsmodern data on the diagnosis and treatment of the complex regional pain syndromes.

  18. Two unique patients with novel microdeletions in 4p16.3 that exclude the WHS critical regions: implications for critical region designation.

    Science.gov (United States)

    South, Sarah T; Bleyl, Steven B; Carey, John C

    2007-09-15

    Wolf-Hirschhorn syndrome (WHS) is characterized by growth delay, developmental delay, hypotonia, seizures, feeding difficulties, and characteristic facial features. Deletion of either of two critical regions (WHSCR and WHSCR-2) within chromosome band 4p16.3 has been proposed as necessary for the minimal clinical manifestations of WHS and controversy remains regarding their designation. We describe two patients with novel terminal microdeletions in 4p16.3 who lack the characteristic facial features but do show some of the more nonspecific manifestations of WHS. The first patient had a ring chromosome 4 with an intact 4q subtelomere and a terminal 4p microdeletion of approximately 1.27-1.46 Mb. This deletion was distal to both proposed critical regions. The second patient had a normal karyotype with a terminal 4p microdeletion of approximately 1.78 Mb. This deletion was distal to WHSCR and the breakpoint was near or within the known distal boundary for WHSCR-2. Both patients showed significant postnatal growth delay, mild developmental delays and feeding difficulties. Their facial features were not typical for WHS. The phenotype of the first patient may have been influenced by the presence of a ring chromosome. Seizures were absent in the first patient whereas the second patient had a complex seizure disorder. Characterization of these patients supports the hypothesis that a gene in WHSCR-2, LETM1, plays a direct role in seizure development, and demonstrates that components of the WHS phenotype can be seen with deletions distal to the known boundaries of the two proposed critical regions. These patients also emphasize the difficulty of mapping clinical manifestations common to many aneusomy syndromes. (c) 2007 Wiley-Liss, Inc.

  19. Cytomorphology of Boerhaave's syndrome: A critical value in cytology

    Science.gov (United States)

    Khalbuss, Walid E.; Hooda, Shveta; Auger, Manon

    2013-01-01

    Spontaneous esophageal perforation into the pleural cavity (Boerhaave's syndrome) is a rare life-threatening condition, which requires early diagnosis and urgent management. The diagnosis of such critical condition in many cases is delayed because of atypical clinical presentation, resulting in increased morbidity and mortality. Cytological examination of pleural fluid can provide early, fast and accurate diagnosis of such critical condition and help in better and early management of this disease. We describe a case of an 81-year-old female with esophageal perforation who presented with a left sided pleural effusion. The correct diagnosis was established in this case by observing gastrointestinal-like fluid characteristics of the thoracic drainage upon cytological and chemical analyses and the rupture was confirmed by esophagography. The cytological examination of pleural fluid revealed benign reactive squamous cells, fungal organisms, bacterial colonies, and vegetable material consistent with a ruptured esophagus. Cytological examination of pleural fluid is a rapid and accurate technique that can help in establishing the diagnosis of this challenging entity and guide initiation proper management of this unusual entity. PMID:23858318

  20. LETM1, a novel gene encoding a putative EF-hand Ca(2+)-binding protein, flanks the Wolf-Hirschhorn syndrome (WHS) critical region and is deleted in most WHS patients.

    Science.gov (United States)

    Endele, S; Fuhry, M; Pak, S J; Zabel, B U; Winterpacht, A

    1999-09-01

    Deletions within human chromosome 4p16.3 cause Wolf-Hirschhorn syndrome (WHS), which is characterized by severe mental and developmental defects. It is thought that haploinsufficiency of more than one gene contributes to the complex phenotype. We have cloned and characterized a novel gene (LETM1) that is deleted in nearly all WHS patients. LETM1 encodes a putative member of the EF-hand family of Ca(2+)-binding proteins. The protein contains two EF-hands, a transmembrane domain, a leucine zipper, and several coiled-coil domains. On the basis of its possible Ca(2+)-binding property and involvement in Ca(2+) signaling and/or homeostasis, we propose that haploinsufficiency of LETM1 may contribute to the neuromuscular features of WHS patients. Copyright 1999 Academic Press.

  1. Criticality Analysis of SFP Region I under Dry Air Condition

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Ki Yong; Kim, Min Chul [KHNP, Daejeon (Korea, Republic of)

    2016-05-15

    This paper is to provide a result of the criticality evaluation under the condition that new fuel assemblies for initial fuel loading are storing in Region 1 of SFP in the dry air. The objective of this analysis is to ensure the effective neutron multiplication factor(k{sub eff}) of SFP is less than 0.95 under that condition. This analysis ensured the effective neutron multiplication factor(k{sub eff}) of Region 1 of SFP is less than 0.95 under the condition in the air. The keff in Region I of SFP under the condition of the dry air is 0.5865. The increased k{sub calc} of the Region 1 after the mislocated fuel assembly accident is 0.0444 at the pool flooded with un-borated water.

  2. Criticality analyses of regions containing uranium in the earth history

    International Nuclear Information System (INIS)

    Ravnik, M.

    2005-01-01

    Investigations of necessary conditions for a self-sustained chain reaction in the Earth inner regions hypothetically containing uranium is presented for the time interval from Earth formation to present time. It is determined that criticality was theoretically possible up to 2.5 Ga before present if uranium concentrated in pure form. In the early geological history (4 Ga before present) the self-sustained criticality could occur even if uranium was diluted up to 1:20 by the average core material or 1:60 by the average mantle material. If other metallic materials of similar density as uranium (e.g., Au, W) or similar atomic weight (e.g., Th) concentrated from the primordial mixture in equal proportion as uranium, criticality was not possible for any period in Earth history provided that the basic material contained no light nuclides (H, C). Criticality in the Earth inner regions could have established only if uranium concentrated from the basic material more effectively than elements of similar density or atomic number. (orig.)

  3. [Complex regional pain syndrome type 1: negating the myth

    NARCIS (Netherlands)

    Frolke, J.P.M.; Dongen, R.T.M. van; Meent, H. van de

    2015-01-01

    Complex regional pain syndrome type 1 (CRPS-1) was identified in the Netherlands more than 30 years ago, but since then the arguments supporting this diagnosis have become weaker. Incidence has decreased, it is often not possible to make a definite diagnosis, the pathophysiology remains unclear and

  4. Reflex sympathetic dystrophy/complex regional pain syndrome.

    Science.gov (United States)

    Gann, Charlotte

    2008-02-01

    Occupational health nurses are usually the first to assess workers with reflex sympathetic dystrophy/complex regional pain syndrome. Therefore, they must be aware of the signs and symptoms, implications for lost time, and higher incidence of disability related to this disorder.

  5. Complex regional pain syndrome/reflex sympathetic dystrophy.

    Science.gov (United States)

    Jakubowicz, Brian; Aner, Musa

    2010-06-01

    Questions from patients about analgesic pharmacotherapy and responses from the authors are presented to help educate patients and make them more effective self-advocates. The topics addressed in this issue are the signs, symptoms, and diagnosis of complex regional pain syndrome/reflex sympathetic dystrophy.

  6. Video thermography: complex regional pain syndrome in the picture

    NARCIS (Netherlands)

    S.P. Niehof (Sjoerd)

    2007-01-01

    textabstractIn this thesis videothermography is developed and evaluated as a diagnostic and monitoring tool in Complex Regional Pain Syndrome type 1 (CRPS1). This work is conducted within four pre- set developmental phases: namely, the initial, potential, monitoring and diagnostic phases.

  7. Neuroimmune Alterations in the Complex Regional Pain Syndrome

    NARCIS (Netherlands)

    F.J.P.M. Huygen (Frank)

    2004-01-01

    textabstractComplex Regional Pain Syndrome (CRPS) is a disease which occurs as a complication after surgery or trauma, although spontaneous development is described. CRPS is characterized by continuing pain, sensory and vasomotor, sudomotor, motor and trophic disturbances. Many of these symptoms are

  8. Motor control in complex regional pain syndrome: A kinematic analysis

    NARCIS (Netherlands)

    Schilder, J.C.M.; Schouten, A.C.; Perez, R.S.G.M.; Huygen, F.J.P.M.; Dahan, A.; Noldus, L.P.J.J.; van Hilten, J.J.; Marinus, J.

    2012-01-01

    This study evaluated movement velocity, frequency, and amplitude, as well as the number of arrests in three different subject groups, by kinematic analysis of repetitive movements during a finger tapping (FT) task. The most affected hands of 80 patients with complex regional pain syndrome (CRPS)

  9. [Critical challenges for human resources in health: a regional view].

    Science.gov (United States)

    Rigoli, Felix; Rocha, Cristianne Famer; Foster, Allison Annette

    2006-01-01

    This text presents the context and background, the methodology and some of the main results of the regional consultation on the critical challenges for human resources in health in the Americas. The Consultation, carried out in June and July 2005, was part of the strategy of the Pan American Health Organization (PAHO/WHO) for the organization of the VII Regional Meeting of the Observatories of Human Resources, held in Toronto (Canada). The main results and suggestions by the actors consulted with regard to the role of international cooperation in the countries of the Region are presented, so that the countries and international agencies can better formulate common strategies of development and strengthening of the work force in health.

  10. The identification of five novel genes in the cri-du-chat critical region

    Energy Technology Data Exchange (ETDEWEB)

    Simmons, A.D.; Gallardo, T.D.; Lovett, M. [Univ. of Texas Southwestern Medical Center, Dallas, TX (United States)] [and others

    1994-09-01

    Cri-du-chat is a contiguous gene syndrome associated with deletions in the short arm of chromosome 5 (chr 5). Chr 5p-specific markers have been used to define two critical regions: a larynx malformation region, located at 5p15.3, and a region responsible for the remaining clinical features of the syndrome, which maps to 5p15.2. Thirty cosmids that map to this latter region have been isolated from the LANL chr 5-specific library using 5 STSs. More recently, we have constructed a YAC contig of the region which encompasses 2-3 Mb. The 30 framework cosmids were used in a direct selection with cDNAs from placenta, activated T-cells and cerebellum to isolate an initial set of expressed sequences from this region. Since no genes, to date, have been isolated or localized within the cri-du-chat deletion, a cosmid containing a control reporter gene (ANX6) was used to monitor enrichment. ANX6 cDNAs were enriched by several thousand-fold in the selected cDNAs. A total of nine non overlapping cDNA fragments were obtained from the cDNA pools. These have been ordered within the YAC contig, map to 5 discrete cosmid sets in the critical region and thus conservatively represent five discrete transcription units. The DNA sequences of these fragments are novel by sequence database comparisons. PCR primers were constructed and were used to confirm gene placements in the YAC contig, as well as to investigate the expression profile of these genes in several different tissues and cell types. In one case, these primer sets enabled two of the nine fragments to be linked into a larger cDNA. The nine cDNAs showed various patterns of differential expression in a panel of tissues. These expressed sequences represent the first genes isolated within the cri-du-chat critical region and represent the initial steps in the derivation of a comprehensive inventory and expression profile of the estimated 100 genes that may reside in this region.

  11. Simple Model for Identifying Critical Regions in Atrial Fibrillation

    Science.gov (United States)

    Christensen, Kim; Manani, Kishan A.; Peters, Nicholas S.

    2015-01-01

    Atrial fibrillation (AF) is the most common abnormal heart rhythm and the single biggest cause of stroke. Ablation, destroying regions of the atria, is applied largely empirically and can be curative but with a disappointing clinical success rate. We design a simple model of activation wave front propagation on an anisotropic structure mimicking the branching network of heart muscle cells. This integration of phenomenological dynamics and pertinent structure shows how AF emerges spontaneously when the transverse cell-to-cell coupling decreases, as occurs with age, beyond a threshold value. We identify critical regions responsible for the initiation and maintenance of AF, the ablation of which terminates AF. The simplicity of the model allows us to calculate analytically the risk of arrhythmia and express the threshold value of transversal cell-to-cell coupling as a function of the model parameters. This threshold value decreases with increasing refractory period by reducing the number of critical regions which can initiate and sustain microreentrant circuits. These biologically testable predictions might inform ablation therapies and arrhythmic risk assessment.

  12. [Reflex dystrophy. Complex regional pain syndrome type I].

    Science.gov (United States)

    Petersen, Gry Kambskard; Jensen, Michael Reinhold; Dahlin, Lars B; Nielsen, Niels H Søe

    2002-10-21

    Reflex sympathetic dystrophy or complex regional pain syndrome type I is primarily a clinical diagnosis. The syndrome is most common after soft tissue damage or fractures and is more often seen in women than in men. The paramount symptom is pain, but oedema, a limited range of motion, changes in sensibility, and trophic changes are also seen. The pathogenesis is unknown, but most clinicians believe it to be caused by disturbances in the sympathetic or sensory nervous system and/or an excessive inflammatory response, most likely neurogenic inflammation. It seems that early treatment with physiotherapy and corticosteroids has a positive effect on the disease. Despite lack of documentation, the principles of treatment usually prescribed for the treatment of neurogenic pain must be taken into consideration. There is a lack of large double-blind studies on all aspects of the syndrome.

  13. Presurgical language fMRI: Mapping of six critical regions.

    Science.gov (United States)

    Benjamin, Christopher F; Walshaw, Patricia D; Hale, Kayleigh; Gaillard, William D; Baxter, Leslie C; Berl, Madison M; Polczynska, Monika; Noble, Stephanie; Alkawadri, Rafeed; Hirsch, Lawrence J; Constable, R Todd; Bookheimer, Susan Y

    2017-08-01

    Language mapping is a key goal in neurosurgical planning. fMRI mapping typically proceeds with a focus on Broca's and Wernicke's areas, although multiple other language-critical areas are now well-known. We evaluated whether clinicians could use a novel approach, including clinician-driven individualized thresholding, to reliably identify six language regions, including Broca's Area, Wernicke's Area (inferior, superior), Exner's Area, Supplementary Speech Area, Angular Gyrus, and Basal Temporal Language Area. We studied 22 epilepsy and tumor patients who received Wada and fMRI (age 36.4[12.5]; Wada language left/right/mixed in 18/3/1). fMRI tasks (two × three tasks) were analyzed by two clinical neuropsychologists who flexibly thresholded and combined these to identify the six regions. The resulting maps were compared to fixed threshold maps. Clinicians generated maps that overlapped significantly, and were highly consistent, when at least one task came from the same set. Cases diverged when clinicians prioritized different language regions or addressed noise differently. Language laterality closely mirrored Wada data (85% accuracy). Activation consistent with all six language regions was consistently identified. In blind review, three external, independent clinicians rated the individualized fMRI language maps as superior to fixed threshold maps; identified the majority of regions significantly more frequently; and judged language laterality to mirror Wada lateralization more often. These data provide initial validation of a novel, clinician-based approach to localizing language cortex. They also demonstrate clinical fMRI is superior when analyzed by an experienced clinician and that when fMRI data is of low quality judgments of laterality are unreliable and should be withheld. Hum Brain Mapp 38:4239-4255, 2017. © 2017 Wiley Periodicals, Inc. © 2017 The Authors Human Brain Mapping Published by Wiley Periodicals, Inc.

  14. Complex regional pain syndromes (CRPS) type 1 validating case histories

    OpenAIRE

    P. Berger

    2003-01-01

    The treatment of patients with complex regional pain syndrome (CRPS) type 1 is challenging and unpredictable as the condition presents with vascular and neuropathic symptoms after nil or even minor injury to a peripheral nerve. The condition is one of a pain and motor dysfunction. The pathophysiology is not well understood and the relief of symptoms may change from being sympathetically mediated to sympathetically independent during  the course of the disease. At any stage physiotherapy has b...

  15. Allogeneic stem cell transplantation for myelodysplastic syndromes: critical for cure?

    NARCIS (Netherlands)

    Witte, T.J.M. de

    2011-01-01

    Allogeneic stem cell transplantation (SCT) is the treatment of choice for young patients (age syndromes (MDS) characterized by poor-risk or intermediate-risk cytogenetics, who have a histocompatible related or unrelated donor. For patients who lack an human

  16. Critical review of studies on atmospheric dispersion in coastal regions

    International Nuclear Information System (INIS)

    Shearer, D.L.; Kaleel, R.J.

    1982-09-01

    This study effort was required as a preliminary step prior to initiation of field measurements of atmospheric dispersion in coastal regions. The Nuclear Regulatory Commission (NRC) is in the process of planning an extensive field measurement program to generate data which will serve as improved data bases for licensing decisions, confirmation of regulations, standards, and guides, and for site characterizations. The study being reported here is an effort directed to obtaining as much information as is possible from existing studies that is relevant toward NRC's objectives. For this study, reports covering research and meteorological measurements conducted for industrial purposes, utility needs, military objectives, and academic studies were obtained and critically reviewed in light of NRC's current data needs. This report provides an interpretation of the extent of existing usable information, an indication of the potential for tailoring existing research toward current NRC information needs, and recommendations for several follow-on studies which could provide valuable additional information through reanalysis of the data. Recommendations are also offered regarding new measurement programs. Emphasis is placed on the identification and acquisition of data from atmospheric tracer studies conducted in coastal regions. A total of 225 references were identified which deal with the coastal atmosphere, including meteorological and tracer measurement programs, theoretical descriptions of the relevant processes, and dispersion models

  17. Critical review of studies on atmospheric dispersion in coastal regions

    Energy Technology Data Exchange (ETDEWEB)

    Shearer, D.L.; Kaleel, R.J.

    1982-09-01

    This study effort was required as a preliminary step prior to initiation of field measurements of atmospheric dispersion in coastal regions. The Nuclear Regulatory Commission (NRC) is in the process of planning an extensive field measurement program to generate data which will serve as improved data bases for licensing decisions, confirmation of regulations, standards, and guides, and for site characterizations. The study being reported here is an effort directed to obtaining as much information as is possible from existing studies that is relevant toward NRC's objectives. For this study, reports covering research and meteorological measurements conducted for industrial purposes, utility needs, military objectives, and academic studies were obtained and critically reviewed in light of NRC's current data needs. This report provides an interpretation of the extent of existing usable information, an indication of the potential for tailoring existing research toward current NRC information needs, and recommendations for several follow-on studies which could provide valuable additional information through reanalysis of the data. Recommendations are also offered regarding new measurement programs. Emphasis is placed on the identification and acquisition of data from atmospheric tracer studies conducted in coastal regions. A total of 225 references were identified which deal with the coastal atmosphere, including meteorological and tracer measurement programs, theoretical descriptions of the relevant processes, and dispersion models.

  18. [Complex regional pain syndrome type 1: negating the myth].

    Science.gov (United States)

    Frölke, Jan Paul M; van Dongen, Robert T; van de Meent, Henk

    2015-01-01

    Complex regional pain syndrome type 1 (CRPS-1) was identified in the Netherlands more than 30 years ago, but since then the arguments supporting this diagnosis have become weaker. Incidence has decreased, it is often not possible to make a definite diagnosis, the pathophysiology remains unclear and treatments are extremely diverse. Since the patient group is so heterogeneous, it is often unclear exactly which patients should be included. Disuse due to immobilization can give an identical clinical picture, including the inflammatory parameters that are seen in CRPS-1. CRPS-1 following injury can be prevented with exercise, and incidence is declining dramatically. Taking these factors into consideration, we support the view that CRPS-1 is not an illness but rather a 'disuse syndrome' as a result of immobilization, or there may be a missed underlying diagnosis.

  19. Complex regional pain syndrome type I following pacemaker implantation

    Directory of Open Access Journals (Sweden)

    Sangita Kamath

    2015-12-01

    Full Text Available A 70-year-old woman presented with burning pain and swelling over dorsum of right hand and small joints of the fingers, associated with redness, feeling of warmth, and stiffness of the fingers, with inability to bend the fingers since 2 months. The symptoms were progressively increasing in intensity for the past 1 month. There was no history of fever or trauma to the hand. Two months before her symptoms started, she had permanent pacemaker implanted for complete heart block with syncope. She was hypertensive and was on regular medication. Her X-ray of right hand showed decreased bone density (demineralisation, suggestive of osteopenia. A diagnosis of reflex sympathetic dystrophy syndrome or complex regional pain syndrome type I induced by pacemaker insertion was made. She was treated with amitriptyline and steroids, after which her symptoms improved dramatically.

  20. [Complex regional pain syndrome. Reflex sympathetic dystrophy and causalgia].

    Science.gov (United States)

    Baron, R; Binder, A; Ulrich, W; Maier, C

    2002-04-01

    Complex regional pain syndromes (CRPS) occur as the inadequate response to painful trauma in a distal extremity. With CRPS I (sympathetic reflex dystrophy), no lesion of the nerve is present. Aside from sensory disturbances, burning deep spontaneous pain and mechanical allodynia are characteristic. Disturbances in the skin blood circulation, sweating, edema, and trophic disturbances of the skin, joints, and bones are typical. Reduction in muscle strength, tremor, and late dystonic changes comprise the motor disturbances. All symptoms are distributed in the distal extremity and not limited to the region of the peripheral nerves. Complex regional pain syndrome II (causalgia), develops following a partial peripheral nerve lesion. The distally generalized symptoms are identical. Successful therapy depends on an early start of interdisciplinary treatment. In addition to the pain therapy, physiotherapy plays a decisive role in rehabilitation. During the acute phase, freedom from pain at rest and retrogression of the edema must be achieved. With slight spontaneous pain, a conservative therapeutic method may be applied (analgesics, rest, raised position). In case of insufficient improvement and in difficult cases, the effect of intervention (sympathetic blockade) should be tested and possibly a blockade series performed. After reduced spontaneous pain, physiotherapy should be increased stepwise.

  1. Computer analysis of regional cerebral perfusion: a critical clinical analysis

    International Nuclear Information System (INIS)

    Ronai, P.M.; O'Reilly, R.J.; Collins, P.J.

    1975-01-01

    An advanced computer program has been developed for the analysis of regional cerebral perfusion data obtained by the scintillation camera during sup(99m)Tc-pertechnetate cerebral radioangiography. The program evaluates and corrects detector non-uniformity; selects (using statistical criteria) three regions of interest (ROIs) corresponding to the distribution of the left and right middle cerebral arteries and both anterior cerebral arteries; measures the areas of the ROIs and plots total corrected counts per unit ROI area per unit time against time for each ROI. The significance of differences in perfusion between ROIs is assessed and related to a normal population distribution. A critical clinical evaluation of this program was undertaken on 686 patients who had cerebral radioangiograms during 1970 and 1971. Final diagnoses were determined from case records after a follow-up period of two years or more. Original digital data were reprocessed and original analogue dynamic scintiphotos were re-reported without knowledge of the clinical data or digital results. Analogue reports were compared with the results of digital analysis using two different statistical methods to analyse the digital results. Neither method of digital analysis gave any increase in the yield of true positive findings while one method of analysis substantially increased the yield of false-positive findings. Comparison of these findings with those of a similar study carried out in 1971 shows a dramatic improvement in the accuracy of analogue results in the present study compared with the earlier one, but no change in the accuracy of digital results. Observer ''education'' by continued exposure to digital data at routine reporting sessions in the intervening three years between the two studies is suggested as the main cause of the improvement in analogue results. Attention is also drawn to the importance of good detector uniformity characteristics for accurate analogue reporting and to the fact that

  2. Allogeneic stem cell transplantation for myelodysplastic syndromes: critical for cure?

    Science.gov (United States)

    de Witte, Theo

    2011-06-01

    Allogeneic stem cell transplantation (SCT) is the treatment of choice for young patients (age ≤ 55 years) with myelodysplastic syndromes (MDS) characterized by poor-risk or intermediate-risk cytogenetics, who have a histocompatible related or unrelated donor. For patients who lack an human leukocyte antigen-compatible donor, autologous SCT, or chemotherapy may be good alternatives for those with MDS and with good-risk cytogenetic characteristics. Iron toxicity is an underestimated cause of hematopoietic stem cell transplantation (HSCT) treatment-related mortality. The pathogenesis, diagnosis, and monitoring of iron-induced organ damage are currently topics of investigation. Prospective studies on the prevention or treatment of iron toxicity before HSCT and/or after HSCT are necessary. Copyright © 2011. Published by Elsevier Inc.

  3. Cytomorphology of Boerhaave′s syndrome: A critical value in cytology

    OpenAIRE

    Walid E Khalbuss; Shveta Hooda; Manon Auger

    2013-01-01

    Spontaneous esophageal perforation into the pleural cavity (Boerhaave's syndrome) is a rare life-threatening condition, which requires early diagnosis and urgent management. The diagnosis of such critical condition in many cases is delayed because of atypical clinical presentation, resulting in increased morbidity and mortality. Cytological examination of pleural fluid can provide early, fast and accurate diagnosis of such critical condition and help in better and early management of this dis...

  4. Acute coronary syndrome in the Asia-Pacific region.

    Science.gov (United States)

    Chan, Mark Y; Du, Xin; Eccleston, David; Ma, Changsheng; Mohanan, Padinhare P; Ogita, Manabu; Shyu, Kou-Gi; Yan, Bryan P; Jeong, Young-Hoon

    2016-01-01

    More than 4.2 billion inhabitants populate the Asia-Pacific region. Acute coronary syndrome (ACS) is now a major cause of death and disability in this region with in-hospital mortality typically exceeding 5%. Yet, the region still lacks consensus on the best approach to overcoming its specific challenges in reducing mortality from ACS. The Asia-Pacific Real world evIdenCe on Outcome and Treatment of ACS (APRICOT) project reviewed current published and unpublished registry data, unmet needs in ACS management and possible approaches towards improving ACS-related mortality in the region. There was striking heterogeneity in the use of invasive procedures, pharmacologic practice (hospitalization/post-discharge), and in short- and long-term clinical outcomes across healthcare systems; this heterogeneity was perceived to be far greater than in Western Europe or the United States. 'Benchmark' short-term clinical outcomes are preferred over long-term outcomes due to difficulties in follow-up, recording and maintenance of medication adherence in a geographically large and culturally diverse region. Key 'barriers' towards improving outcomes include patient education (pain awareness, consequences of missing medication and secondary prevention), geographical landscape (urban vs. metropolitan), limited long-term adherence to guideline-based management and widespread adoption of cost-based rather than value-based healthcare systems. Initiatives to overcome these barriers should include implementation of pre-hospital management strategies, toolkits to aid in-hospital treatment, greater community outreach with online patient/physician education and telemedicine, sustainable economic models to improve accessibility to effective pharmacotherapies and the acquisition of high-quality 'real-world' regional data to tailor secondary prevention initiatives that meet the unique needs of countries in this region. Copyright © 2015 The Authors. Published by Elsevier Ireland Ltd.. All rights

  5. Reflex sympathetic dystrophy--a complex regional pain syndrome.

    Science.gov (United States)

    Turner-Stokes, L

    2002-12-15

    Reflex sympathetic dystrophy (RSD) is a complex and poorly-understood condition characterized by: (a) pain and altered sensation; (b) motor disturbance and soft tissue change; (c) vasomotor and autonomic changes; and (d) psychosocial disturbance. Neurological symptoms typically do not conform to any particular pattern of nerve damage. Many different names have been ascribed to this condition and most recently the term 'complex regional pain syndrome' has been coined to emphasize the complex interaction of somatic, psychological and behavioural factors. Diagnostic criteria have been proposed by the International Association for the Study of Pain, but are still subject to debate. This review article describes the clinical features which may present as part of the condition, and the patho-physiology and pre-disposing factors so far identified. The evidence for effectiveness of different interventions is presented and a treatment approach outlined for inter-disciplinary management. While RSD is traditionally associated with pain in the extremities, the possibility is raised that the same process may underlie chronic pain syndromes affecting more central structures, such as testicular or pelvic pain.

  6. REGIONAL DEVELOPMENT AGENCIES IN TURKEY AND CRITICS OF THESE AGENTS

    Directory of Open Access Journals (Sweden)

    ZÜHAL CANKORKMAZ

    2013-06-01

    Full Text Available New order of the world caused a dramatic change in the variety and in the composition of economic actors by globalisation politics.  Countries have to take attention through new investments and have to change economically and politically in order to keep themselves in the competitive global environment. In globalisation, regional development and competition are very significant. New economic actors are needed in regional development as well. Some of these new actors are regional institutions, and Regional Development Agencies (RDA in these institutions. The main role that is imposed to these agencies are to guide the regional development and revive the regional economy. These agencies are in a position that is motivating development in these regions

  7. Complex regional pain syndrome as a stress response.

    Science.gov (United States)

    Grande, Lucinda A; Loeser, John D; Ozuna, Judy; Ashleigh, Alexandra; Samii, Ali

    2004-07-01

    A man in his 50's with a prior traumatic brain injury and multiple psychiatric disorders developed acute pain and swelling in his left leg distal to the mid shin. These symptoms arose during an exacerbation of his post-traumatic stress disorder (PTSD). Among his traumatic memories, he reported having witnessed the combat injury and death of a friend who had lost his left leg distal to the mid shin. A diagnosis of conversion disorder was technically excluded because the findings met criteria for Complex Regional Pain Syndrome (CRPS) type I. Based on recent research into the neurobiology of CRPS, PTSD and conversion disorder, we propose a supraspinal mechanism which could explain how emotional stress can produce both symptoms and signs.

  8. Complex Regional Pain Syndrome (CRPS Type II After Carpal Tunnel Release Surgery: Case Report

    Directory of Open Access Journals (Sweden)

    Hakan Tunç

    2010-08-01

    Full Text Available Summary Complex regional pain syndrome is a chronic syndrome characterised with dystrophic changes and neurovascular disordes of bone and skin of extremities. The most common etiological factors are trauma, ischemic heart disease, cerebral lesions, servical region disorders, infections, and surgical treatments. Carpal tunnel syndrome is the most common compressive neuropaty of the upper extremity. There are various surgical and conservative alternatives in the treatment of carpal tunnel syndrome. Complex regional pain syndrome has been reported as a complication of surgical carpal tunnel release in 2-5% of patients. In this case report clinical characteristics and rehabilitation outcomes of a patient with complex regional pain syndrome after carpal tunnel release surgery is presented. (Osteoporoz Dünyasından 2010;16:41-3

  9. Regional outbreak of staphylococcal scalded skin syndrome in healthy children

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    Hyun Jeong Do

    2010-01-01

    Full Text Available Purpose : Staphylococcal scalded skin syndrome (SSSS is a relatively uncommon superficial blistering skin disease that is due to Staphylococcus aureus. We had experienced a regional outbreak of SSSS over 3 years in healthy children. Methods : We retrospectively reviewed the medical records of those patients diagnosed as SSSS. Most of neonatal cases were nosocomial infections and excluded from the analysis. The clinical features, laboratory findings, the isolation and antibiotic resistance of S. aureus, the antibiotic management and other supportive treatments were analyzed. Results : Fifty-five patients with SSSS were admitted to our hospital from October 2001 to September 2004. The median age of patients was 3.0 years. Of the 55 patients, 9 were the generalized type, 13 were the intermediate type and 33 were the scarletiniform rash. All the patients were living in neighborhood of the Jinju area. S. aureus were isolated from 9 of the patients and all of the isolated S. aureus were methicillin resistant. All the patients except two were treated with intravenous flocloxacillin or nafcillin and/or cefotaxime. All the patients recovered during the follow-up period of 2 to 3 weeks. Conclusion : We experienced a regional outbreak of SSSS in previous healthy children. Further study for finding the carriers of S. aureus caused SSSS and preventing the spread of this disease is needed. Additionally, guidelines for treating SSSS due to methicillin resistant S. aureus should be established.

  10. Patterns of childhood nephrotic syndrome in Aljouf region, Saudi Arabia

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    Abdulaziz Alhassan

    2013-01-01

    Full Text Available To determine the patterns in children with nephrotic syndrome (NS in our region, we retrospectively studied 25 nephrotic patients evaluated and followed-up in the hospitals of the Aljouf region in Saudi Arabia. The male to female ratio was 2:1. The incidence of idiopathic NS was two to six cases per 100,000 children/year, while the prevalence was 12 cases per 100,000 children. Five patients presented with hypertension, seven (28% with respiratory tract infection, three (12% with tender abdomen, two (8% with gross hematuria, one (4% with thrombosis of renal veins with seizure and shock and the remaining seven presented to the hospital without complications. Twenty-three (92% patients were sensitive to the first steroid course and two (8% patients were steroid resistant, and both of them proved to have focal segmental glomerulosclerosis (FSGS on biopsy. Of those who responded, six (24% patients remained in remission, while 17 (68% patients became steroid dependant. Of those who were diagnosed as steroid dependent, three patients were biopsied and one of them was diagnosed as FSGS, while the remaining two had minimal change glomerulonephritis. Regarding steroid-dependent patient relapses, seven (41% patients showed infrequent relapses and ten (59% patients had frequent relapses. We conclude that the patterns of NS and the response to treatment observed in this study did not differ significantly from studies from other places in the world.

  11. Genome-wide expression profiling of complex regional pain syndrome.

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    Eun-Heui Jin

    Full Text Available Complex regional pain syndrome (CRPS is a chronic, progressive, and devastating pain syndrome characterized by spontaneous pain, hyperalgesia, allodynia, altered skin temperature, and motor dysfunction. Although previous gene expression profiling studies have been conducted in animal pain models, there genome-wide expression profiling in the whole blood of CRPS patients has not been reported yet. Here, we successfully identified certain pain-related genes through genome-wide expression profiling in the blood from CRPS patients. We found that 80 genes were differentially expressed between 4 CRPS patients (2 CRPS I and 2 CRPS II and 5 controls (cut-off value: 1.5-fold change and p<0.05. Most of those genes were associated with signal transduction, developmental processes, cell structure and motility, and immunity and defense. The expression levels of major histocompatibility complex class I A subtype (HLA-A29.1, matrix metalloproteinase 9 (MMP9, alanine aminopeptidase N (ANPEP, l-histidine decarboxylase (HDC, granulocyte colony-stimulating factor 3 receptor (G-CSF3R, and signal transducer and activator of transcription 3 (STAT3 genes selected from the microarray were confirmed in 24 CRPS patients and 18 controls by quantitative reverse transcription-polymerase chain reaction (qRT-PCR. We focused on the MMP9 gene that, by qRT-PCR, showed a statistically significant difference in expression in CRPS patients compared to controls with the highest relative fold change (4.0±1.23 times and p = 1.4×10(-4. The up-regulation of MMP9 gene in the blood may be related to the pain progression in CRPS patients. Our findings, which offer a valuable contribution to the understanding of the differential gene expression in CRPS may help in the understanding of the pathophysiology of CRPS pain progression.

  12. Terminology, criteria, and definitions in complex regional pain syndrome: challenges and solutions

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    Dutton K

    2015-12-01

    Full Text Available Katherine Dutton,1 Geoffrey Littlejohn21Department of Rheumatology, Townsville Hospital, Douglas, QLD, Australia; 2Department of Medicine, Monash University, Melbourne, VIC, AustraliaAbstract: Complex regional pain syndrome has long been recognized as a severe and high impact chronic pain disorder. However, the condition has historically been difficult to define and classify and little attention has been given to where complex regional pain syndrome sits within other apparently similar chronic pain disorders, such as fibromyalgia and regional pain syndrome. In this review challenges in regard to nomenclature, definitions, and classification of complex regional pain syndrome are reviewed and suggestions are provided about future directions.Keywords: complex regional pain syndromes, fibromyalgia, causalgia, classification

  13. Regional innovation systems in Portugal: a critical evaluation

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    Domingos Santos

    2014-01-01

    Full Text Available La innovación ha pasado a primer plano en la política regional en las tres últimas décadas. Las políticas públicas han sido diseñadas por los «modelos de mejores prácticas» derivadas de las zonas urbano-metropolitanas de alta tecnología y regiones exitosas. Sin embargo, las lecciones aprendidas de estos ejemplos son raramente transferibles a otras partes. Los sistemas regionales de innovación en las regiones periféricas, y la posibilidad de su actuación como instrumentos de competitividad territorial, rara vez han sido objeto de discusión. El objetivo principal del artículo es, precisamente, tener a Portugal como un ejemplo para enriquecer este análisis. En la primera parte de este artículo se examina el concepto de sistemas de innovación regional en el contexto de las modernas teorías de la innovación y de las políticas regionales. Se argumenta que el papel del aprendizaje localizado es de importancia estratégica en la promoción del desarrollo regional endógeno. Luego, los autores discuten las barreras estructurales y oportunidades para promover estrategias regionales de innovación en el contexto político, económico y social portugués, y, por último, se señalan algunas especificidades que deben ser abordadas en el rediseño de las intervenciones públicas con el fin de mejorar la competitividad regional y la sostenibilidad.

  14. High-Risk Acute Coronary Syndrome in a Patient with Coronary Subclavian Steal Syndrome Secondary to Critical Subclavian Artery Stenosis

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    Zaher Fanari

    2014-01-01

    Full Text Available Patients with multivessel coronary artery disease are more likely to have extensive atherosclerosis that involves other major arteries. Critical subclavian artery (SCA stenosis can result in coronary subclavian steal syndrome that may present as recurrent ischemia and even myocardial infarction in patients with coronary artery bypass graft (CABG. In patients with concomitant severe native coronary disease, occluded saphenous venous grafts (SVG to other arteries, percutaneous intervention on critical subclavian artery (SCA stenosis that will compromise the blood flow to left internal mammary graft (LIMA and left anterior descending (LAD artery will be a high-risk procedure and may be associated with cardiogenic shock, especially in patients with preexisting ischemic cardiomyopathy. The use of percutaneous left ventricular (LV assist device like Impella will offer better hemodynamic support and coronary perfusion and therefore results in decreased myocardial damage, maximized residual cardiac function, and lower incidence of cardiogenic shock.

  15. Motor imagery and its effect on complex regional pain syndrome: an integrative review

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    Nélio Silva de Souza

    2015-12-01

    Full Text Available The motor imagery (MI has been proposed as a treatment in the complex regional pain syndrome type 1 (CRPS-1, since it seems to promote a brain reorganization effect on sensory- motor areas of pain perception. The aim of this paper is to investigate, through an integrative critical review, the influence of MI on the CRPS-1, correlating their evidence to clinical practice. Research in PEDro, Medline, Bireme and Google Scholar databases was conducted. Nine randomized controlled trials (level 2, 1 non-controlled clinical study (level 3, 1 case study (level 4, 1 systematic review (level 1, 2 review articles and 1 comment (level 5 were found. We can conclude that MI has shown effect in reducing pain and functionality that remains after 6 months of treatment. However, the difference between the MI strategies for CRPS-1 is unknown as well as the intensity of mental stress influences the painful response or effect of MI or other peripheral neuropathies.

  16. Critical issues of alcohol safety in the region

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    Svetlana Vasil’evna Aksyutina; Natal’ya Mikhailovna Ovsyankina

    2015-01-01

    The paper presents results of the research into the economic and socio-demographic indicators associated with the production and consumption of alcoholic beverages. It discloses the analysis of the alcoholic beverage market structure in the Vologda Oblast. The authors have identified the threshold of the safe alcohol production volume in the region taking into account the World Health Organization standards of alcohol consumption and the share of illegally produced goods. The article states t...

  17. Changes resembling complex regional pain syndrome following surgery and immobilization.

    Science.gov (United States)

    Pepper, Alison; Li, Wenwu; Kingery, Wade S; Angst, Martin S; Curtin, Catherine M; Clark, J David

    2013-05-01

    The study of complex regional pain syndrome (CRPS) in humans is complicated by inhomogeneities in available study cohorts. We hoped to characterize early CRPS-like features in patients undergoing hand surgery. Forty-three patients were recruited from a hand surgery clinic that had elective surgeries followed by cast immobilization. On the day of cast removal, patients were assessed for vasomotor, sudomotor, and trophic changes, and edema and pain sensitization using quantitative sensory testing. Pain intensity was assessed at the time of cast removal and after 1 additional month, as was the nature of the pain using the Leeds Assessment of Neuropathic Symptoms and Signs (LANSS). Skin biopsies were harvested for the analysis of expression of inflammatory mediators. We identified vascular and trophic changes in the surgical hands of most patients. Increased sensitivity to punctate, pressure, and cold stimuli were observed commonly as well. Moreover, levels of IL-6, TNF-alpha, and the mast cell marker tryptase were elevated in the skin of hands ipsilateral to surgery. Moderate-to-severe pain persisted in the surgical hands for up to 1 month after cast removal. Exploratory analyses suggested interrelationships between the physical, quantitative sensory testing, and gene expression changes and pain-related outcomes. This study has identified CPRS-like features in the limbs of patients undergoing surgery followed by immobilization. Further studies using this population may be useful in refining our understanding of CRPS mechanisms and treatments for this condition. Published by Elsevier Inc.

  18. Complex regional pain syndromes (CRPS type 1 validating case histories

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    P. Berger

    2003-01-01

    Full Text Available The treatment of patients with complex regional pain syndrome (CRPS type 1 is challenging and unpredictable as the condition presents with vascular and neuropathic symptoms after nil or even minor injury to a peripheral nerve. The condition is one of a pain and motor dysfunction. The pathophysiology is not well understood and the relief of symptoms may change from being sympathetically mediated to sympathetically independent during  the course of the disease. At any stage physiotherapy has been advocated as the corner stone and most important aspect of treatment in the rehabilitation of these individuals but unfortunately it has been difficult to execute when pain is exacerbated due to allodynia (unbearable to touch or move and hyperalgesia. Best results have been obtained if the patients are recognised and treated in the early or acute phase and it has been found that through careful assessment and analysis these patients can be recognised by previous events that have occurred in their initial case history. The treatment in the acute stage with physiotherapy modalities such as electrical stimulation and acupuncture will produce an early cessation of the symptoms and prevention of the disease developing into the fully blown CRPS type 1 with irreversible and possibly atrophic consequences. Case histories have been presented that illustrate these important aspects and demonstrate  the value of early and the appropriate physiotherapy that may be more successful than other pharmacological and physical interventions in this disease.

  19. Reflex sympathetic dystrophy/complex regional pain syndrome, type 1

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    S.H. Botha

    2004-06-01

    Full Text Available Complex regional pain syndrome (CPRS, type 1 is a pain disorder that develops unpredictably and can follow a minor injury. A 12-year-old boy presented with severe pain in the feet and could not walk or stand weight bearing. Normal X-rays showed osteopenic changes and radiolucent lines, which appeared to be stress fractures. Three-phase bone scintigraphy showed no uptake in the left lower leg on the blood pool phase or on the immediate or delayed images. This indicated typical CPRS type 1 in children. The uptake in the right foot was increased and the stress fracture and other illness could not be differentiated. Computed tomography was done to exclude stress fractures. Only osteopenic changes in both calcaneus bones were found and there was no evidence of cortical stress fractures. Magnetic resonance images revealed oedema in the calcaneus and talus bones of both feet. The patient received epidural narcotic infusion with sympathetic blockage for 1 week combined with extensive physiotherapy. The blood pool phase of the bone scan became normal within 2 weeks, and increased uptake in both feet was noticed. The patient was followed up with MRI every 3 months and the bone marrow oedema disappeared after 6 months.

  20. [Current aspects of the therapy of complex regional pain syndrome].

    Science.gov (United States)

    Birklein, F; Schlereth, T

    2013-12-01

    Complex regional pain syndrome (CRPS) constitutes an enigmatic post-traumatic pain disorder. The paper provides state of the art knowledge about CRPS. The typical constellation of symptoms of CRPS includes pain, sensory disturbances, motor symptoms, disturbances of the autonomic control of the limbs and trophic changes. These symptoms generalize distally and go beyond single nerve innervation territories. Diagnosis is made based on clinical findings. Three-phase bone scintigraphy may be the best supporting technical investigation. Symptoms typically change during the course of CRPS. In the acute stage inflammatory symptoms prevail and during chronic stages the most expressed findings are related to central neuroplasticity. These findings include hyperalgesia, sensory loss, CRPS movement disorder, body perception disturbances and autonomic symptoms. Medical treatment with anti-inflammatory agents (steroids) or bisphosphonates is most effective in the early stages and DMSO cream might also be beneficial. Administration of i.v. ketamine has been proven effective against CRPS pain and physical therapy with behavioral components, such as pain exposure helps to overcome central reorganization and functional impairment. Psychotherapy should be offered if there are significant comorbidities. All other forms of treatment are more or less empirical. Invasive treatment should be restricted to selected cases and should only be offered in specialized centers. If these recommendations are followed the prognosis for CRPS is not as poor as commonly assumed. Whether this means a return to the previous quality of life is unclear and often depends on very personal factors.

  1. Complex regional pain syndrome 1 – the Swiss cohort study

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    Perez Roberto SGM

    2008-06-01

    Full Text Available Abstract Background Little is known about the course of Complex Regional Pain Syndrome 1 and potential factors influencing the course of this disorder over time. The goal of this study is a to set up a database with patients suffering from suspected CRPS 1 in an initial stadium, b to perform investigations on epidemiology, diagnosis, prognosis, and socioeconomics within the database and c to develop a prognostic risk assessment tool for patients with CRPS 1 taking into account symptomatology and specific therapies. Methods/design Prospective cohort study. Patients suffering from a painful swelling of the hand or foot which appeared within 8 weeks after a trauma or a surgery and which cannot be explained by conditions that would otherwise account for the degree of pain and dysfunction will be included. In accordance with the recommendations of International Classification of Functioning, Disability and Health (ICF model, standardised and validated questionnaires will be used. Patients will be monitored over a period of 2 years at 6 scheduled visits (0 and 6 weeks, 3, 6, 12, and 24 months. Each visit involves a physical examination, registration of therapeutic interventions, and completion of the various study questionnaires. Outcomes involve changes in health status, quality of life and costs/utility. Discussion This paper describes the rationale and design of patients with CRPS 1. Ideally, potential risk factors may be identified at an early stage in order to initiate an early and adequate treatment in patients with increased risk for delayed recovery. Trial registration Not applicable

  2. Complex Regional Pain Syndrome after Transradial Cardiac Catheterization

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    Chih-Jou Lai

    2006-04-01

    Full Text Available Complex regional pain syndrome (CRPS is a disease with unclear pathophysiology. The condition is characterized by pain, soft tissue change, vasomotor change, and even psychosocial disturbance. It may affect the upper more than the lower extremities, and the distal more than the proximal. The trigger factors include carpal tunnel release, Dupuytren's repair, tendon release procedures, knee surgery, crush injury, ankle arthrodesis, amputation, and hip arthroplasty. Rarely, it has been associated with stroke, mastectomy, pregnancy, and osteogenesis imperfecta. Herein, we present a rare case of a patient who was diagnosed with CRPS after transradial cardiac catheterization. CRPS was first diagnosed due to hand swelling, allodynia, paresthesia, and the limited range of motion of interphalangeal, metacarpophalangeal, and wrist joints, with the preceding factor of transradial cardiac catheterization, and was then confirmed by a three-phase bone scan. After intensive physical therapy with hydrotherapy, manual soft tissue release, and occupational therapy for the hand function, there was much improvement in range of motion and hand function. There was no allodynia or painful sensation in the follow-up. After training, the functional status of this patient was adequate for daily activity.

  3. Comparing critical success factors for PV between three regions

    International Nuclear Information System (INIS)

    Groenendaal, B.J.; Roosmalen, J.A.M. van

    2000-01-01

    As a research method the project team has chosen to survey the opinion of PV experts and persons involved in the implementation of PV. Therefore, a questionnaire was sent to about 300 persons spread among 3 regions America, Europe and Asia. The returned questionnaires have been statistical analysed with the software tool SPSS. The used analytical methods can be divided in a comparing method (Mann-Whitney test) and ranking methods (Friedman test and the medal classification test). General conclusions are that there is a significant difference in answers between America and Europe about the significance of 'cost reduction'. Also Asia is significant different from America and Europe for the factor 'technical' reliability. There is a significant difference about the status of financing between America and Europe versus Asia. All the regions have a different opinion about the status of RD and D'. Also the status of 'the PV network' is significant different between Asia and America. America and Europe rank 'financial aspects' and 'cost reduction' as the most significant aspects while Asia rank 'specialist knowledge' and 'the PV network' as the most significant. All regions rank 'specialist knowledge' having the worst status and rank 'environmental merits' and 'technical reliability' having the best status. Finally Europe and Asia differ significant about which aspect is the most important for the factors 'internationalisation and other activities'. Europe finds 'harmonisation of policy' the most important internationalisation aspect and Asia prefers 'development aid'. Asia prefers 'pioneering activities' and Europe prefers 'initiatives by social organisations' as most important other activity. (au)

  4. Statistical Determination of the Boundaries of Critical Ischemia in Patients with Diabetic Foot Syndrome

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    M.B. Gorobeyko

    2014-09-01

    Full Text Available Using Cox regression we have analyzed dependence of the probability of amputation and death in patients with critical lower limb ischemia in diabetic foot syndrome on the initial value of the partial pressure of oxygen (ТсРО2. It is found that the conventional boundary of critical ischemia relatively risk of high amputations can be considered ТсРО2 14 mmHg. At this pressure the risk of amputation is statistically higher. Risk of low amputations in patients increases with ТсРО2 less than 20 mmHg. The mortality among patients is statistically higher with ТсРО2 less than 20 mmHg. Mortality in groups, in which this parameter is less, is hardly differ. It is advisable to revise the boundary of critical ischemia to ТсРО2 value of 20 mmHg.

  5. Critical issues of alcohol safety in the region

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    Svetlana Vasil’evna Aksyutina

    2015-03-01

    Full Text Available The paper presents results of the research into the economic and socio-demographic indicators associated with the production and consumption of alcoholic beverages. It discloses the analysis of the alcoholic beverage market structure in the Vologda Oblast. The authors have identified the threshold of the safe alcohol production volume in the region taking into account the World Health Organization standards of alcohol consumption and the share of illegally produced goods. The article states that the increased alcohol production contributes to the rise in tax revenues, but the state fiscal policy to regulate the alcoholic beverage market leads to an increase in the share of shadow turnover. The authors have calculated the economic loss connected with the illegal production of alcoholic beverages in the Vologda Oblast. The alcohol consumption is a destructive socio-demographic process and one of the threats to the health of the nation. Excessive alcohol consumption leads to alcohol dependence, regression of the society and increases the threat to national and economic security. The study reveals a direct correlation between the consumption of alcoholic beverages per capita and mortality rates in men and women of working age from the causes related to the consumption of alcoholic beverages. The study of the international experience to regulate alcohol consumption has showed the need to tighten state control in the sphere of production and turnover of alcoholic products. The conduct of the unified state alcohol policy substantiates the selection of the alcohol industry in the all-Russian classifier of economic activity types. The authors have elaborated the concept and conditions of alcoholic security from the point of view of economic growth and social development. The article substantiates the necessity to monitor alcohol safety indicators when considering the regional development. It presents the complex system of socio-economic and demographic

  6. Secondary late-onset Lennox-Gastaut syndrome: a critical view

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    Amilton Antunes Barreira

    1984-06-01

    Full Text Available From a group of 66 patients with the Lennox-Gastaut syndrome, 12 whose manifestations had started after the 6th year of life were selected for study. These patients were observed clinically and electroencephalographically for an average period of 2.5 years. We concluded that the late-onset syndrome can: occur after a long interval between diffuse encephalopathy and the first clinical manifestations, with or without previous alterations in psychomotor development; be associated from the onset with serious mental retardation; exhibit simple, complex and mixed seizures similar to those observed in the early form. These patients can also: suffer complex and mixed epileptic seizures previously unreported; paroxismal interictal EEG abnormalities that overlap those of the early form; and spike-slow wave complexes in the EEG that can be actived by hyperpnea. Our results demonstrate that the incidence of LGS after 6 years of age does not necessarily imply a lower frequency of organic antecedents, or beter neu-ropsychomotor development up to the onset of the syndrome or the presence of a higher rate of nonspecific seizures (generalized or partial seizures, and mainly those with elaborate symptomatolgy. The critical and encephalographic expression of the syndrome, which is secondary and starts after the 6th year of age, may depend at least in part on the age when diffuse encephalopathy started.

  7. A clinical approach to complex regional pain syndrome.

    Science.gov (United States)

    Harden, R N

    2000-06-01

    The clinical approach to complex regional pain syndrome (CRPS) is complicated by a lack of precision diagnostically, and a lack of evidence-based information for treatment. The vagaries of diagnosis were somewhat improved by the Orlando Conference (1993), where a consensus panel of experts developed a new taxonomy and criteria. Unfortunately the criteria can be based entirely on subjective grounds (patient history), and as such provides a very sensitive but not very specific device. There is some effort in the research community to amend these criteria to make them more specific. We encourage the practicing physician to include as much objective data along with the quasi-objective and subjective information currently used in formulating the diagnosis. This imprecision in diagnostic issues has significantly hampered treatment because it has not led to solid, generalizable, randomized controlled trials. To date there are no substantial scientific trials of any particular therapy or medication in the specific diagnosis of CRPS. Much can be inferred from the work with peripheral neuropathy and central pain. However, it is unlikely that this will be a perfect concordance with best therapy for CRPS. It remains our responsibility to diagnose each patient as best we can, supported by the best possible objective signs and testing. Once the diagnosis is made it is necessary to proceed in a pragmatic empirical way, following the best guidelines available. The guidelines should be considered a "rough sketch" and the key to clinical success will be flexibility, a vast fund of the available knowledge, patience, and compassion. To allow the deficiencies in the science to paralyze the clinical process is therapeutic nihilism, and not acceptable.

  8. Endoscopic gastrostomy: critical analysis in a regional referral hospital.

    Science.gov (United States)

    Fávaro, Gabriel Marques; Filho, Tiago Franco; Coca, Diego Soares; Cunha, Marco Antonio; Sato Uemura, Ricardo; Furuya Júnior, Carlos Kyoshi; Aparício, Dayse; Artifon, Everson L A

    2017-01-01

    Percutaneous endoscopic gastrostomy (PEG) is a safe and effective endoscopic surgical procedure for enteral access and gastrointestinal decompression, and it is an excellent alternative to surgical gastrostomy. There are various clinical indications and these mainly include the need for prolonged enteral nutritional support due to complications from neurological, geriatric and oncological diseases and decompression of the gastrointestinal tract. Although safe and effective, a number of possible complications relating to the time (early or late complications) and severity (minor or major complications) may occur. To evaluate the indications and complications relating to PEG among selected patients at the digestive endoscopy service of a regional referral hospital. A retrospective study on patients who underwent PEG between May 2013 and April 2015 was conducted. The patients were identified through searching the medical records and using a standardized data form. 53 cases were analyzed. The average age was 70.47 years and 60.37% of the patients werewomen. The main indication identified was the need for enteral nutritional support, and 73.58% of these indications were derived from neurological complications, 15.09% from geriatric complications and 9.43% from oncological complications and 1.88% were due to gastrointestinal decompression. Complications occurred in 24.52% of the cases: 23.07% were major and 76.93% were minor. Regarding the time, there were eight cases of late complications and five of early complications. PEG was shown to be an effective and safe method for enteral access. The indication and complication rates were similar to those reported in the literature.

  9. Regional syndromes: towards a dynamical classification of social-ecological sustainability challenges

    Science.gov (United States)

    Dyke, James; Dearing, John; Zhang, Enlou; Rong, Wang; Zhang, Ke

    2015-04-01

    Schellnhuber et al (1997) first presented the concept of social-ecological syndromes as a means of mapping sustainability challenges facing modern regions to sets of sub-systems. They argued that the great diversity of global social-ecological systems could be represented as different combinations from a much smaller number of patterns of sub-systems. Here, we explore the possibility of extending this idea to an empirical and dynamical classification of system functioning, such as changes in the strength of connectivity, coupling between sub-systems and emergent phenomena. To demonstrate this approach we combine multi-decadal datasets for social, economic and biophysical changes from two contrasting regions in China. This allows us to reconstruct the evolution of system functioning in terms of regulating and provisioning ecosystem services. Climate records and political and policy time-lines provide insight about endogenous and exogenous drivers. Our findings show similar patterns in both regions of long-term trade-off between rising provisioning services and declining regulating services, but with important regional differences. In eastern China, the upward trajectory in provisioning services is strongly linked to the history of agricultural policy reforms but losses of regulating services are more an emergent phenomenon. In contrast, in southwest China, trajectories of provisioning and regulating services are both linked strongly to policy and development initiatives. In both regions, the last few years see the long term trade-off breaking down with provisioning services declining or remaining stationary while losses of regulating services continue to decline. Evidence exists in both regions that critical transitions have been crossed in some ecosystems. The strength of coupling between the socio-economic and biophysical sub-systems also remains strong and shows no sign of de-coupling in either region as required for sustainability. We discuss how our findings

  10. Regional Ulnar Nerve Strain Following Decompression and Anterior Subcutaneous Transposition in Patients With Cubital Tunnel Syndrome.

    OpenAIRE

    Foran, I; Vaz, K; Sikora-Klak, J; Ward, SR; Hentzen, ER; Shah, SB

    2016-01-01

    Simple decompression and anterior subcutaneous transposition are effective surgical interventions for cubital tunnel syndrome and yield similarly favorable outcomes. However, a substantial proportion of patients demonstrate unsatisfactory outcomes for reasons that remain unclear. We compared effects of decompression and transposition on regional ulnar nerve strain to better understand the biomechanical impacts of each strategy.Patients diagnosed with cubital tunnel syndrome and scheduled for ...

  11. Global and regional trends in the nutritional status of young people: a critical and neglected age group.

    Science.gov (United States)

    Akseer, Nadia; Al-Gashm, Sara; Mehta, Seema; Mokdad, Ali; Bhutta, Zulfiqar A

    2017-04-01

    Adolescence and emerging adulthood form a critical time period for the achievement of optimal health and nutrition across all stages of the life course. We undertook a review of published literature and global data repositories for information on nutrition levels, trends, and patterns among young people aged 10-24 years from January 1, 2016 to September 20, 2016. We describe patterns for both males and females at the global level and for geographic regions for the period covering 1990-2015. The results of this study paint a less than ideal picture of current young people's nutrition, suggesting dual burdens of underweight and high body-mass index in many countries and variable improvements in micronutrient deficiencies across geographical regions. Poor diet diversity and lack of nutrient-dense food, high risk for metabolic syndrome, and sedentary lifestyles also characterize this population. The need for objective, comparable, and high-quality data is also recognized for further study in this area. As the global community works toward supporting and scaling up health gains in the sustainable development goal era, realizing the critical role of young people is essential. Investing in young people's nutrition is critical to making strides in improving the overall health and well-being of all populations. © 2017 New York Academy of Sciences.

  12. Saturated properties prediction in critical region by a quartic equation of state

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    Yong Wang

    2011-08-01

    Full Text Available A diverse substance library containing extensive PVT data for 77 pure components was used to critically evaluate the performance of a quartic equation of state and other four famous cubic equations of state in critical region. The quartic EOS studied in this work was found to significantly superior to the others in both vapor pressure prediction and saturated volume prediction in vicinity of critical point.

  13. Scapulothoracic bursitis and snapping scapula syndrome: a critical review of current evidence.

    Science.gov (United States)

    Warth, Ryan J; Spiegl, Ulrich J; Millett, Peter J

    2015-01-01

    Symptomatic scapulothoracic disorders, such as painful scapular crepitus and/or bursitis, are uncommon; however, they can produce significant pain and disability in many patients. To review the current knowledge pertaining to snapping scapula syndrome and to identify areas of further research that may be helpful to improve clinical outcomes and patient satisfaction. Systematic review. We performed a preliminary search of the PubMed and Embase databases using the search terms "snapping scapula," "scapulothoracic bursitis," "partial scapulectomy," and "superomedial angle resection" in September 2013. All nonreview articles related to the topic of snapping scapula syndrome were included. The search identified a total of 167 unique articles, 81 of which were relevant to the topic of snapping scapula syndrome. There were 36 case series of fewer than 10 patients, 16 technique papers, 11 imaging studies, 9 anatomic studies, and 9 level IV outcomes studies. The level of evidence obtained from this literature search was inadequate to perform a formal systematic review or meta-analysis. Therefore, a critical review of current evidence is presented. Snapping scapula syndrome, a likely underdiagnosed condition, can produce significant shoulder dysfunction in many patients. Because the precise origin is typically unknown, specific treatments that are effective for some patients may not be effective for others. Nevertheless, bursectomy with or without partial scapulectomy is currently the most effective primary method of treatment in patients who fail nonoperative therapy. However, many patients experience continued shoulder disability even after surgical intervention. Future studies should focus on identifying the modifiable factors associated with poor outcomes after operative and nonoperative management for snapping scapula syndrome in an effort to improve clinical outcomes and patient satisfaction. © 2014 The Author(s).

  14. Critical behaviour of the Ginzburg-Landau model in the type II region

    CERN Document Server

    Kajantie, K.; Neuhaus, T.; Rajantie, A.; Rummukainen, K.

    2002-01-01

    We study the critical behaviour of the three-dimensional U(1) gauge+Higgs theory (Ginzburg-Landau model) at large scalar self-coupling \\lambda (``type II region'') by measuring various correlation lengths as well as the Abrikosov-Nielsen-Olesen vortex tension. We identify different scaling regions as the transition is approached from below, and carry out detailed comparisons with the criticality of the 3d O(2) symmetric scalar theory.

  15. Complex Regional Pain Syndrome: Practical Diagnostic and Treatment Guidelines, 4th Edition

    NARCIS (Netherlands)

    Harden, R.; Oaklander, A.L.; Burton, A.W.; Perez, R.S.G.M.; Richardson, K.; Swan, M.; Barthel, J.; Costa, B.; Graciosa, J.R.; Bruehl, S.

    2013-01-01

    Objective: This is the fourth edition of diagnostic and treatment guidelines for complex regional pain syndrome (CRPS; aka reflex sympathetic dystrophy). Methods: Expert practitioners in each discipline traditionally utilized in the treatment of CRPS systematically reviewed the available and

  16. AN AUDIT OF THE SUDDEN-INFANT-DEATH-SYNDROME PREVENTION PROGRAM IN THE AUCKLAND REGION

    NARCIS (Netherlands)

    Obdeijn, M. C.; Tonkin, S.; Mitchell, E. A.

    1995-01-01

    Aim. An audit of the sudden infant death syndrome (SIDS) prevention programme in the Auckland region. Methods. 107 health professionals working in antenatal classes, postnatal wards, domiciliary midwifery and the Plunket Society were interviewed. Results. Maternal smoking and infant sleeping

  17. Interpretation of chest radiographs in both cancer and other critical care patients with acute respiratory distress syndrome

    Directory of Open Access Journals (Sweden)

    Sema Yilmaz

    2013-04-01

    Full Text Available Acute respiratory distress syndrome is a clinical, pathophysiological and radiographic pattern that has signs of pulmonary edema occur without elevated pulmonary venous pressures. Clinical presentation and progression of acute respiratory distress syndrome are followed by frequently ordered portable chest X-ray in critically ill patients. We evaluated chest radiographs of ten cancer and other six critical care pediatric patients. The parenchymal imaging of lung in patients with cancer was reported the same as that of other critically ill children despite underlying pathophysiological variations in our investigation. [Cukurova Med J 2013; 38(2.000: 270-273

  18. MicroRNA modulation in complex regional pain syndrome

    Directory of Open Access Journals (Sweden)

    Orlova Irina A

    2011-11-01

    Full Text Available Abstract Background Aberrant expression of small noncoding RNAs called microRNAs (miRNAs is a common feature of several human diseases. The objective of the study was to identify miRNA modulation in patients with complex regional pain syndrome (CRPS a chronic pain condition resulting from dysfunction in the central and/or peripheral nervous systems. Due to a multitude of inciting pathologies, symptoms and treatment conditions, the CRPS patient population is very heterogeneous. Our goal was to identify differentially expressed miRNAs in blood and explore their utility in patient stratification. Methods We profiled miRNAs in whole blood from 41 patients with CRPS and 20 controls using TaqMan low density array cards. Since neurogenic inflammation is known to play a significant role in CRPS we measured inflammatory markers including chemokines, cytokines, and their soluble receptors in blood from the same individuals. Correlation analyses were performed for miRNAs, inflammatory markers and other parameters including disease symptoms, medication, and comorbid conditions. Results Three different groups emerged from miRNA profiling. One group was comprised of 60% of CRPS patients and contained no control subjects. miRNA profiles from the remaining patients were interspersed among control samples in the other two groups. We identified differential expression of 18 miRNAs in CRPS patients. Analysis of inflammatory markers showed that vascular endothelial growth factor (VEGF, interleukin1 receptor antagonist (IL1Ra and monocyte chemotactic protein-1 (MCP1 were significantly elevated in CRPS patients. VEGF and IL1Ra showed significant correlation with the patients reported pain levels. Analysis of the patients who were clustered according to their miRNA profile revealed correlations that were not significant in the total patient population. Correlation analysis of miRNAs detected in blood with additional parameters identified miRNAs associated with

  19. Demographic Features in Patients with Complex Regional Pain Syndrome

    Directory of Open Access Journals (Sweden)

    Berat Meryem Alkan

    2011-12-01

    Full Text Available Summary Özet Orijinal Araştırma / Original Investigation 77 Aim: Complex regional pain syndrome (CRPS is characterized by pain, vasomotor and sudomotor changes and trophic disturbances. It may develop as a result of trauma, especially extremity fractures and surgery. Although the pathogenesis of CRPS is not exactly clear explained, it has been suggested that central and periferal mechanisms play role and neurogenic inflamatuar and microvasculer functional impairmensts are accompanying to the process. Not all but some of the patients with past trauma or with other possible etiological factors develop CRPS. This suggests the presence of an individual predisposition. In this article, we searched post fractüred CRPS-I patients demographic characteristics, current systemic diseases and symptoms that accompany a CRPS in our records. Materials and Methods: In this retrospective study conducted in Ankara Atatürk Education and Research Hospital, medical records of 356 patients admitted to physical medicine and rehabilitation outpatient clinics with fractures between January 2011 and June 2011 were evaluated and 34 patients diagnosed as CRPS-1 were included in the study. Results: 34 of 356 patients (9.56% with fractures were diagnosed as CRPS-1 in our outpatient clinics. Mean age of the patients was 46.05 years and 10 patients were females (29.4% and 24 patients (70.6% were males. Fractures were in upper extremities in 18 patients (52.9% and in lower extremities in 16 (47.1% patients. Neuropsychiatric disorders and other systemic diseases that may have a role in etiology of CRPS were found in lower rates in medical records of our patients. Conclusion: CRPS does not develop in every patients after travma who has etiologic risk factors, so it reminds that there exists a tendency to CRPS. We have observed that CRPS-1 risk was increased in male patients and in upper extremity fractures. We did not observe any other impertant factor which increases

  20. A parametric model for the global thermodynamic behavior of fluids in the critical region

    International Nuclear Information System (INIS)

    Luettmer-Strathmann, J.; Tang, S.; Sengers, J.V.

    1992-01-01

    The asymptotic thermodynamic behavior of fluids near the critical point is described by scaling laws with universal scaling functions that can be represented by parametric equations. In this paper, we derive a more general parametric model that incorporates the crossover from singular thermodynamic behavior near the critical point to regular classical thermodynamic behavior far away from the critical point. Using ethane as an example, we show that such a parametric crossover model yields an accurate representation of the thermodynamic properties of fluids in a large region around the critical point

  1. Identifying hotspots and management of critical ecosystem services in rapidly urbanizing Yangtze River Delta Region, China.

    Science.gov (United States)

    Cai, Wenbo; Gibbs, David; Zhang, Lang; Ferrier, Graham; Cai, Yongli

    2017-04-15

    Rapid urbanization has altered many ecosystems, causing a decline in many ecosystem services, generating serious ecological crisis. To cope with these challenges, we presented a comprehensive framework comprising five core steps for identifying and managing hotspots of critical ecosystem services in a rapid urbanizing region. This framework was applied in the case study of the Yangtze River Delta (YRD) Region. The study showed that there was large spatial heterogeneity in the hotspots of ecosystem services in the region, hotspots of supporting services and regulating services aggregately distributing in the southwest mountainous areas while hotspots of provisioning services mainly in the northeast plain, and hotspots of cultural services widespread in the waterbodies and southwest mountainous areas. The regionalization of the critical ecosystem services was made through the hotspot analysis. This study provided valuable information for environmental planning and management in a rapid urbanizing region and helped improve China's ecological redlines policy at regional scale. Copyright © 2017 Elsevier Ltd. All rights reserved.

  2. Role of a critical visceral adipose tissue threshold (CVATT) in metabolic syndrome: implications for controlling dietary carbohydrates: a review

    OpenAIRE

    Freedland, Eric S

    2004-01-01

    Abstract There are likely many scenarios and pathways that can lead to metabolic syndrome. This paper reviews mechanisms by which the accumulation of visceral adipose tissue (VAT) may contribute to the metabolic syndrome, and explores the paradigm of a critical VAT threshold (CVATT). Exceeding the CVATT may result in a number of metabolic disturbances such as insulin resistance to glucose uptake by cells. Metabolic profiles of patients with visceral obesity may substantially improve after onl...

  3. An unbalanced 5;22 translocation in a patient with features of VCFS: Confirmation by FISH of loss of the DGS/VCFS critical region

    Energy Technology Data Exchange (ETDEWEB)

    Smith, J.J.; McGlothlin, J.C. [Baylor College of Medicine, Houston, TX (United States); Lindsay, E.A. [Georgia Neurological Institute, Savannah, GA (United States)

    1994-09-01

    A 14-month-old male with a history of ventricular septal defect (VSD) and cleft lip and palate (CL/P) was referred for evaluation because of growth retardation, developmental delay and hypotonia. The initial cytogenetic analysis was 45,XY,-5,-22,+der(5)t(5q:22q). Determination of breakpoints 5q35.3 and 22q11.2 were made on G-banded chromosomes with band lengths of over 550. However, with both regions being light G bands, it was difficult to tell if the break in 22 was proximal to or distal to the DiGeorge syndrome/velocardiofacial syndrome (DGS/VCFS) critical region. Since the patient had a VSD and CL/P, velocardiofacial syndrome and a deletion of the DGS/VCFS critical region was suspected. FISH analysis of the derivative chromosome was performed with a cocktail containing two probes (ONCOR), D22S75, which maps to the DGS/VCFS region in 22q11.2 and D22S39, which maps to 22q13.3 and is used as a control for the presence of chromosome 22. Three fluorescent signals were observed, two on the normal 22 and the third on the terminal end of the derivative 5 chromosome verifying the translocation of 22q to 5q. No signal was observed for D22S75 on the proximal part of the translocated segment, verifying a deletion of the DGS/VCFS region in a patient whose clinical evaluation is consistent with velocardiofacial syndrome. Experiments with additional probes are underway to determine the deletion boundaries.

  4. Differentiating Delirium From Sedative/Hypnotic-Related Iatrogenic Withdrawal Syndrome: Lack of Specificity in Pediatric Critical Care Assessment Tools.

    Science.gov (United States)

    Madden, Kate; Burns, Michele M; Tasker, Robert C

    2017-06-01

    To identify available assessment tools for sedative/hypnotic iatrogenic withdrawal syndrome and delirium in PICU patients, the evidence supporting their use, and describe areas of overlap between the components of these tools and the symptoms of anticholinergic burden in children. Studies were identified using PubMed and EMBASE from the earliest available date until July 3, 2016, using a combination of MeSH terms "delirium," "substance withdrawal syndrome," and key words "opioids," "benzodiazepines," "critical illness," "ICU," and "intensive care." Review article references were also searched. Human studies reporting assessment of delirium or iatrogenic withdrawal syndrome in children 0-18 years undergoing critical care. Non-English language, exclusively adult, and neonatal intensive care studies were excluded. References cataloged by study type, population, and screening process. Iatrogenic withdrawal syndrome and delirium are both prevalent in the PICU population. Commonly used scales for delirium and iatrogenic withdrawal syndrome assess signs and symptoms in the motor, behavior, and state domains, and exhibit considerable overlap. In addition, signs and symptoms of an anticholinergic toxidrome (a risk associated with some common PICU medications) overlap with components of these scales, specifically in motor, cardiovascular, and psychiatric domains. Although important studies have demonstrated apparent high prevalence of iatrogenic withdrawal syndrome and delirium in the PICU population, the overlap in these scoring systems presents potential difficulty in distinguishing syndromes, both clinically and for research purposes.

  5. Scaled parametric equation of state for steam in the critical region

    International Nuclear Information System (INIS)

    Murphy, T.A.; Sengers, J.V.

    1975-01-01

    The anomalous thermodynamic behavior of fluids near the critical point can be described in terms of scaling laws. In recent years a parametric equation of state, the so-called Linear Model, has been proposed that satisfies the scaling laws and contains only a small number of adjustable parameters. It is shown that the Linear Model yields a satisfactory representation of the experimental P-V-T data for steam in the critical region. (29 references)

  6. Candidate region for Coffin-Siris syndrome at 7q32-->34.

    Science.gov (United States)

    McGhee, E M; Klump, C J; Bitts, S M; Cotter, P D; Lammer, E J

    2000-07-31

    Coffin-Siris syndrome is characterized by intrauterine growth retardation, mental deficiency, coarse face, hypoplastic fifth fingers and nails, hirsutism, and initial difficulties with feeding. The etiology of this syndrome is unknown. We report on an 11-year-old girl with Coffin-Siris syndrome and a de novo, apparently balanced reciprocal translocation between chromosomes 7 and 22 [t(7;22)(q32;q11.2)]. The 7q breakpoint in our patient is very similar to the breakpoint reported in a previous case [McPherson et al., 1997: Am J Med Genet 71:430-433] with a balanced t(1;7)(q21.3;q34). Together, these patients provide evidence that the region 7q32-->34 is a candidate region for the gene responsible for Coffin-Siris syndrome.

  7. The U(1)-Higgs model: critical behaviour in the confining-Higgs region

    International Nuclear Information System (INIS)

    Alonso, J.L.; Azcoiti, V.; Campos, I.; Ciria, J.C.; Cruz, A.; Iniguez, D.; Lesmes, F.; Piedrafita, C.; Rivero, A.; Tarancon, A.; Badoni, D.; Fernandez, L.A.; Munoz Sudupe, A.; Ruiz-Lorenzo, J.J.; Gonzalez-Arroyo, A.; Martinez, P.; Pech, J.; Tellez, P.

    1993-01-01

    We study numerically the critical properties of the U(1)-Higgs lattice model, with fixed Higgs modulus, in the region of small gauge coupling where the Higgs and confining phases merge. We find evidence for a first-order transition line that ends in a second-order point. By means of a rotation in parameter space we introduce thermodynamic magnitudes and critical exponents in close resemblance with simple models that show analogous critical behaviour. The measured data allow us to fit the critical exponents finding values in agreement with the mean-field prediction. The location of the critical point and the slope of the first-order line are accurately measured. (orig.)

  8. Child Abuse and Dissociation in Patients with Complex Regional Pain Syndrome

    Directory of Open Access Journals (Sweden)

    Michael Williams

    1999-01-01

    Full Text Available >OBJECTIVE: In the absence of a proven medical explanation for the chronic pain syndrome Complex Regional Pain Syndrome type I (CRPS I, this study explored a hypothetical link between childhood physical and sexual abuse, and the subsequent development of CRPS I. The hypothesis predicts the existence of a subpopulation of CRPS I patients with a high frequency of dissociative experiences corresponding to a history of childhood trauma.

  9. Tetrasomy 21 pter {yields} q22.1 and Down syndrome: Molecular definition of the region

    Energy Technology Data Exchange (ETDEWEB)

    Daumer-Haas, C.; Schuffenhauer, S.; Walther, J.U. [Universitaet Muenchen (Germany); Portsmann, T. [Humboldt Universitaet, Berlin (Germany); Korenberg, J.R.; Schipper, R.D. [Univ. of California, Los Angeles, CA (United States)

    1994-12-01

    Down syndrome is usually caused by complete trisomy 21. Rarely, it is due to partial trisomy of the segment 21q22. We report on a 33-month-old girl with tetrasomy 21 pter {yields} q22.1 resulting from an extra chromosome idic(21)(q22.1). She has craniofacial traits typical of Down syndrome, including brachycephaly, third fontanel, upward slanting palpebral fissures, round face, and protruding tongue. Speech development is quite delayed whereas motor development is only mildly retarded. The molecular content of the extra isodicentric chromosome was defined by molecular genetic investigations using 13 single copy probes unique to chromosome 21, and SOD1 expression studies. The child was found to have 4 copies of the region defined by D21S16 (21cen) through D21S93 on 21q22.1 and two copies of the remaining region defined by SOD1 {yields} D21S55 {yields} D21S123. In view of the recent assignment of Down syndrome facial characters to the 21q22 region, defined in part by D21S55, it is significant that this child shows a subset of Down syndrome facial manifestations, without duplication of this region. These results suggest that genes contributing to the facial and some of the hand manifestations of Down syndrome also exist in the chromosomal region proximal to D21S55 in band 21q22.1. 34 refs., 6 figs., 3 tabs.

  10. Complex regional pain syndrome type 1 predictors - Epidemiological perspective from a national database analysis.

    Science.gov (United States)

    Elsharydah, Ahmad; Loo, Nathaniel H; Minhajuddin, Abu; Kandil, Enas S

    2017-06-01

    Complex regional pain syndrome type 1 is a disabling pain disorder with unclear etiology. It is usually triggered by an injury to a limb with or without specific nerve injury. The objective of this study is to explore the risk factors and predictors for this disease utilizing a large national database. Retrospective analysis of the Nationwide Inpatient Sample database from 2007 to 2011 in the United States. Adult inpatients diagnosed with complex regional pain syndrome type 1. Chi-square, simple and multivariate logistic regression analyses were conducted. The regression model was adjusted to the patient's demographics and comorbidities. There were 22,533 patients with the discharge diagnosis of complex regional pain syndrome type 1 of an inpatient sample of 33,406,123. It peaks between age 45 and 55. Female gender, Caucasian race, higher median household income, headache, depression, drug abuse and private insurance patients (vs Medicaid patients) were associated with higher rate of complex regional pain syndrome type 1. On the other hand, diabetes, obesity, hypothyroidism, and anemia were associated with a lower rate. Utilizing a large database, our study added more information to the risk profile of the complex regional pain syndrome type 1 in an inpatient population. Such information should be useful for physician for early recognition, diagnosis of patients at risk. Copyright © 2017 Elsevier Inc. All rights reserved.

  11. Critical care in the ED: potentially fatal asthma and acute lung injury syndrome

    Directory of Open Access Journals (Sweden)

    Hodder R

    2012-08-01

    Full Text Available Rick Hodder*Divisions of Pulmonary and Critical Care, University of Ottawa and The Ottawa Hospital, Ottawa, Canada, *Dr Rick Hodder passed away on Tuesday April 17,2012. Please see the Dedication for more information on Dr Hodder.Abstract: Emergency department clinicians are frequently called upon to assess, diagnose, and stabilize patients who present with acute respiratory failure. This review describes a rapid initial approach to acute respiratory failure in adults, illustrated by two common examples: (1 an airway disease – acute potentially fatal asthma, and (2 a pulmonary parenchymal disease – acute lung injury/acute respiratory distress syndrome. As such patients are usually admitted to hospital, discussion will be focused on those initial management aspects most relevant to the emergency department clinician.Keywords: acute asthma, acute lung injury, ARDS, acute respiratory failure

  12. Prenatal diagnosis of Prader-Willi syndrome and Angelman syndrome for fetuses with suspicious deletion of chromosomal region 15q11-q13.

    Science.gov (United States)

    Chang, Chia-Wei; Hsu, Hui-Kuo; Kao, Chiu-Ching; Huang, Jyun-Yuan; Kuo, Pao-Lin

    2014-04-01

    To identify Prader-Willi syndrome (PWS) and Angelman syndrome (AS) among fetuses with suspicious deletion of the chromosomal region 15q11-q13. In a retrospective study, data were assessed from fetuses missing chromosomal band 15q12 that underwent molecular diagnosis at the National Chen-Kung University Hospital, Tainan, Taiwan, between January 2001 and December 2012. Amniocytes were subjected to molecular testing, including fluorescence in situ hybridization (FISH) analysis, methylation-specific PCR (M-PCR), and methylation-specific multiplex-ligation-dependent probe amplification (MS-MLPA). During the 12-year study period, 26 041 amniocyte samples were analyzed at the study center and 27 (0.1%) were found to have a missing 15q12 band. A further 16 samples with a missing 15q12 band were received from other cytogenetic laboratories; as a result, 43 amniocyte samples lacking chromosomal band 15q12 underwent further molecular testing. Among these samples, 3 fetuses (7.0%) were found to have PWS (n=1) or AS (n=2). A minority of cases with missing 15q12 had deletion of the PWS/AS critical region. This finding draws attention to the subtle structural rearrangements that occur on 15q11-q13 and provides useful information for prenatal diagnosis of PWS and AS. Copyright © 2013 International Federation of Gynecology and Obstetrics. Published by Elsevier Ireland Ltd. All rights reserved.

  13. Exclusion of Linkage to the CDL1 Gene Region on Chromosome 3q26.3 in Some Familial Cases of Cornelia de Lange Syndrome

    Science.gov (United States)

    Krantz, Ian D.; Tonkin, Emma; Smith, Melanie; Devoto, Marcella; Bottani, Armand; Simpson, Claire; Hofreiter, Mary; Abraham, Vinod; Jukofsky, Lori; Conti, Brian P.; Strachan, Tom; Jackson, Laird

    2016-01-01

    Cornelia de Lange Syndrome (CdLS) is a complex developmental disorder consisting of characteristic facial features, limb abnormalities, hirsutism, ophthalmologic involvement, gastroesophageal dysfunction, hearing loss, as well as growth and neuro-developmental retardation. Most cases of CdLS appear to be sporadic. Familial cases are rare and indicate autosomal dominant inheritance. Several individuals with CdLS have been reported with chromosomal abnormalities, suggesting candidate genomic regions within which the causative gene(s) may lie. A CdLS gene location (CDL1) has been assigned to 3q26.3 based on phenotypic overlap with the duplication 3q syndrome (critical region 3q26.2-q27) and the report of a CdLS individual with a balanced de novo t(3;17)(q26.3;q23.1). It has been postulated that a gene within the dup3q critical region results in the CdLS when deleted or mutated. We have performed a linkage analysis to the minimal critical region for the dup3q syndrome (that encompasses the translocation breakpoint) on chromosome 3q in 10 rare familial cases of CdLS. Nineteen markers spanning a region of approximately 40 Mb (37 cM) were used. Results of a multipoint linkage analysis demonstrated total lod-scores that were negative across the chromosome 3q26-q27 region. In 4/10 families, lod-scores were less than −2 in the 2 cM region encompassing the translocation, while in the remaining 6/10 families, lod-scores could not exclude linkage to this region. These studies indicate that in some multicase families, the disease gene does not map to the CDL1 region at 3q26.3. PMID:11391654

  14. Renormalization group theory for fluids including critical region. II. Binary mixtures

    Science.gov (United States)

    Mi, Jianguo; Zhong, Chongli; Li, Yi-Gui

    2005-06-01

    In our previous work [J. Mi, C. Zhong, Yi.-G. Li, J. Chen, Chem. Phys., 305 (2004) 37-45], an equation of state (EOS) based on the combination of renormalization group theory (RG) and the statistical associating fluid theory (SAFT) was proposed for describing pure fluid thermodynamic properties both inside and outside critical region, which was extended to binary mixtures in this work. A variety of binary systems were considered in this work, including nonpolar/nonpolar, nonpolar/polar, nonpolar/associating and associating/associating mixtures. Two adjustable parameters are required by the new EOS for each binary system, which are obtained by fitting the vapor-liquid equilibria (VLE) data at one temperature. The calculated results show that the new EOS gives satisfactory predictions for critical properties as well as the VLE at other temperatures, both inside and outside critical region. This work demonstrates that RG theory is a very useful tool for accurately describing fluid properties inside critical region, and a combination of it with SAFT EOS can lead to a new EOS possessing the advantages of both theories, applicable to the whole phase equilibrium region of binary mixtures.

  15. [Coffin-Siris syndrome. Critical study of the literature apropos of a case].

    Science.gov (United States)

    Foasso, M F; Hermier, M; Descos, B; Collet, J P; Perron, F

    1983-03-01

    The authors report a case of the Coffin Siris syndrome which associates a ungueo-digital syndrome (special by the bilateral aplasia or severe hypoplasia of nails and third phalanx of fifth toes and fingers) to other anomalies: facies with thinly fine hairs contrasting with bushy and dense eyebrows and body hypertrichosis, hypotonia and mental retardation. The connections of the Coffin Siris syndrome with the trisomy 9 p+ syndrome and the fetal hydantoïn syndrome are discussed.

  16. Cytomorphology of Boerhaave′s syndrome: A critical value in cytology

    Directory of Open Access Journals (Sweden)

    Walid E Khalbuss

    2013-01-01

    Full Text Available Spontaneous esophageal perforation into the pleural cavity (Boerhaave′s syndrome is a rare life-threatening condition, which requires early diagnosis and urgent management. The diagnosis of such critical condition in many cases is delayed because of atypical clinical presentation, resulting in increased morbidity and mortality. Cytological examination of pleural fluid can provide early, fast and accurate diagnosis of such critical condition and help in better and early management of this disease. We describe a case of an 81-year-old female with esophageal perforation who presented with a left sided pleural effusion. The correct diagnosis was established in this case by observing gastrointestinal-like fluid characteristics of the thoracic drainage upon cytological and chemical analyses and the rupture was confirmed by esophagography. The cytological examination of pleural fluid revealed benign reactive squamous cells, fungal organisms, bacterial colonies, and vegetable material consistent with a ruptured esophagus. Cytological examination of pleural fluid is a rapid and accurate technique that can help in establishing the diagnosis of this challenging entity and guide initiation proper management of this unusual entity.

  17. Persistent Delirium in Chronic Critical Illness as a Prodrome Syndrome before Death.

    Science.gov (United States)

    DeForest, Anna; Blinderman, Craig D

    2017-05-01

    Chronic critical illness (CCI) patients have poor functional outcomes, high risk of mortality, and significant sequelae, including delirium and cognitive dysfunction. The prognostic significance of persistent delirium in patients with CCI has not been well described. We report a case of a patient with CCI following major cardiac surgery who was hemodynamically stable following a long course in the cardiothoracic intensive care unit (CTICU), but had persistent and unremitting delirium. Despite both pharmacological and nonpharmacological approaches to improve his delirium, the patient ultimately continued to have symptoms of delirium and subsequently died in the CTICU. Efforts to reconsider the goals of care, given his family's understanding of his values, were met with resistance as his cardiothoracic surgeon believed that he had a reasonable chance of recovery since his organs were not in failure. This case description raises the question of whether we should consider persistent delirium as a prodrome syndrome before death in patients with CCI. Study and analysis of a case of a patient with CCI following major cardiothoracic surgery who was hemodynamically stable with persistent delirium. Further studies of the prevalence and outcomes of prolonged or persistent agitated delirium in patients with chronic critical illness are needed to provide prognostic information that can assist patients and families in receiving care that accords with their goals and values.

  18. Analysis of two novel cDNAs from the Smith-Magenis syndrome region on chromosome 17

    Energy Technology Data Exchange (ETDEWEB)

    Zhao, Z.Y.; Lee, C.C.; Jiralerspong, S. [Baylor College of Medicine, Houston, TX (United States)] [and others

    1994-09-01

    Smith-Magenis syndrome (SMS) is a clinically recognizable multiple congenital anomaly/mental retardation syndrome associated with deletion of chromosome 17p11.2. To date, only one gene encoding snRNA U3 has been mapped to this region. Here we report the identification of two novel genes, designated 463 and B9, which have been mapped to the SMS region. A full-length cDNA corresponding to each of these genes has been cloned and sequenced. Deletion analysis has been conducted on somatic cell hybrids retaining the del(17)(p11.2) chromosome from each of 15 SMS patients by PCR of sequence tagged sites for the cDNAs and confirmed by Southern analysis. The gene 463 is deleted in 15/15 patients analyzed to date, whereas the gene B9 is deleted in 10/15 of the patients analyzed. Fluorescence in situ hybridization is used to analyze additional SMS patients for hemizygosity at these loci. A physical map of the region is being constructed to determine the relative location of these cDNAs within 17p11.2. Our studies to date, thus, suggest that although both genes 463 and B9 are located within 17p11.2, gene 463 is more likely to be associated with SMS. Complete and exhaustive definition of the critical interval is required to demonstrate the role and importance of gene 463 in SMS.

  19. The gene for death agonist BID maps to the region of human 22q11.2 duplicated in cat eye syndrome chromosomes and to mouse chromosome 6.

    Science.gov (United States)

    Footz, T K; Birren, B; Minoshima, S; Asakawa, S; Shimizu, N; Riazi, M A; McDermid, H E

    1998-08-01

    Cat eye syndrome (CES) is associated with a duplication of a segment of human chromosome 22q11.2. Only one gene, ATP6E, has been previously mapped to this duplicated region. We now report the mapping of the human homologue of the apoptotic agonist Bid to human chromosome 22 near locus D22S57 in the CES region. Dosage analysis demonstrated that BID is located just distal to the CES region critical for the majority of malformations associated with the syndrome (CESCR), as previously defined by a single patient with an unusual supernumerary chromosome. However, BID remains a good candidate for involvement in CES-related mental impairment, and its overexpression may subtly add to the phenotype of CES patients. Our mapping of murine Bid confirms that the synteny of the CESCR and the 22q11 deletion syndrome critical region immediately telomeric on human chromosome 22 is not conserved in mice. Bid and adjacent gene Atp6e were found to map to mousechromosome 6, while the region homologous to the DGSCR is known to map to mouse chromosome 16. Copyright 1998 Academic Press.

  20. Critical pathways of change in fruit export regions at desert margin (Chile)

    DEFF Research Database (Denmark)

    Frederiksen, Peter

    The purpose is to elucidate how critical pathways function in a fruit export region at the desert margin in Chile. The region was investigated at the system level as an open land system with managed fruit plantations in a geographically complex valley. Data collection procedures included total...... of barriers and the creation of possibilities were related to land tenure and water rights. Resulting pathways were physical, biological, societal and cultural. A clear differentiation of regional pathways was identified between plantation owners and smallholder farmers. Founder effects at different time...

  1. Investigation of regional cerebral blood flow in alcoholic Korsakoff's syndrome with 123I-IMP SPECT

    International Nuclear Information System (INIS)

    Nakamura, Makoto; Nomura, Soichiro; Kato, Motoichiro; Nakazawa, Tsuneyuki.

    1995-01-01

    Regional cerebral blood flow (rCBF) was determined quantitatively by single photon emission computed tomography (SPECT) using N-isopropyl-p-[ 123 I]iodoamphetamine ( 123 I-IMP) in 6 patients with alcoholic Korsakoff's syndrome (A group). The findings were compared with concurrently available findings from 6 alcoholic patients with no evidence of cerebral disordres such as Korsakoff's syndrome and dementia (B group) and 4 healthy persons (C group). In both A and B groups, diffuse decrease in blood flow was significantly observed in the entire brain, as compared with the C group; no significant difference in the decreased blood flow existed between the A and B groups. According to the WAIS results, the patients in the A group were classified as 'typical Korsakoff's syndrome' (full IQ of 90 or more) and as 'serious Korsakoff's syndrome' (full IQ of 89 or less). rCBF in the thalamus was significantly lower in the A group of patients with typical Korsakoff's syndrome than the B group. These findings may reflect the variety of alcoholic Korsakoff's syndrome. This may also have an implication for the possible classification of several types in this syndrome. (N.K.)

  2. Features of the Pathogenetic Mechanisms of Regional Blood Flow Disturbances in Diabetic Foot Syndrome (Lliterature Review

    Directory of Open Access Journals (Sweden)

    О.B. Rusak

    2015-09-01

    Full Text Available Diabetes mellitus (DM is recognized as one of the most important noninfectious disease in the world, the prevalence of which became pandemic. In the list of late complications of DM, diabetic foot syndrome is a leader, causing early disability and high mortality. According to the International Diabetes Federation, from 25 to 47 % of hospital admissions of patients with DM is associated with purulent-destructive lesions of the foot as a result of chronic tissue ischemia. This review highlights the main pathophysiological mechanisms of microcirculatory disorders in diabetic foot syndrome, which lead to critical lower limb ischemia.

  3. Noonan like appearance and familial deletion of the 22q11 Shprintzen-DiGeorge critical region

    Energy Technology Data Exchange (ETDEWEB)

    Piussan, C.; Mathieu, M.; Boudailliez, B. [Universites d`Amiens (France)] [and others

    1994-09-01

    Shprintzen velocardiofacial syndrome (VCFS) and reported cases of autosomal dominant DiGeorge sequence (DGS) both belong to a heterogeneous developmental field defect due to the familial segregation of a 22q11 deletion. Two sisters present with mental retardation, dysmorphia and multiple congenital anomalies. The eldest has a Noonan-like appearance; short stature, short webbed neck, low posterior hairline, widely spaced nipples, hemivertebrae, speech disability and mild hypoparathyroidism. Her younger sister has prominent eyes, floppy ears, pulmonary valvular stenosis, hypoplastic right kidney, left multicystic kidney, hypoparathyroidism and renal failure causing death at age 3. Their retarded mother has a typical Shprintzen phenotype and no hypoparathyroidism. A deletion of the critical DiGeorge-Shprintzen conotruncal malformation region was found by FISH in the mother and her Noonan-like daughter. In the mother`s family exist 3 cleft palates, an imperforate anus, a stillbirth and one infant died at age 3 months because of heart malformation. To our knowledge, another case of Noonan-like appearance in a DG patient affected with monosomy 22q11 has been reported in 1992 by Wilson et al. Whether resulting from the hemizygosity of a gene or from the deletion of contiguous genes, the wide DGS-VCFS spectrum encompasses quite variable phenotypes, discordant for palatal and conotruncal defects as well as for hypoparathyroidism, dysmorphic features and multiple congenital anomalies. Physical mapping of both the large 22q11 region commonly lost and the smallest deletion sufficient to produce DGS has been done and may account for the broadening spectrum, the variable expression and the frequently delayed diagnosis of this syndrome.

  4. Complex regional pain syndrome – type I: What’s in a name?

    Science.gov (United States)

    Coderre, Terence J.

    2015-01-01

    Within a two year period in the 1940’s, two Boston physicians published dramatically opposing views on the underlying nature of a syndrome now known as complex regional pain syndrome (CRPS). Evans suggested, in several papers in 1946–1947, that sympathetic reflexes maintain pain and dystrophy in affected limbs. Foisie, in 1947, suggested arterial vasospasms were key in the etiology of this pain syndrome. Evans’ hypothesis established the nomenclature for this syndrome for 60 years, and his term “reflex sympathetic dystrophy” guided clinical treatment and research activities over the same period. Foisie’s proposed nomenclature was unrecognized, and had virtually no impact on the field. Recent evidence suggests that Evans’ contribution to the field may have in fact lead clinicians and researchers astray all those years. This focus article on CRPS compares recent observations with these 2 earlier theories and asks the question -- what if we had adopted Foisie’s nomenclature from the beginning? PMID:20634146

  5. Complex regional pain syndrome in a competitive athlete and regional osteoporosis assessed by dual-energy X-ray absorptiometry: a case report.

    Science.gov (United States)

    Hind, Karen; Johnson, Mark I

    2014-05-27

    Dual-energy X-ray absorptiometry is rarely utilized in the clinical care of patients with complex regional pain syndrome, but may be useful for the non-invasive determination of regional bone fragility and fracture risk, as well as muscular atrophy and regional body composition. This is the first report in the literature of complex regional pain syndrome and musculoskeletal co-morbidities in an athlete, and is the first to focus on dual-energy X-ray absorptiometry for the clinical assessment of complex regional pain syndrome. In this report, we describe the case of a 29-year-old Caucasian man with type 1 complex regional pain syndrome. His body mass index was 29.4kg/m2 at the time of presentation. Despite severe complex regional pain syndrome in the left limb and long term use of a wheelchair, the patient participated in high-performance powerlifting. Dual-energy X-ray absorptiometry revealed marked unilateral differences in bone strength and lean mass between the affected regions and the contralateral regions. Low bone mineral density for age was found in the left hip, with Z-scores ranging from -2.2 to -3.0, and the patient had previously suffered two fractures. Bone density Z-scores in the right hip and legs were normal. Dual-energy X-ray absorptiometry is a valuable tool for the clinical investigation of musculoskeletal health in patients with complex regional pain syndrome. Regional osteoporosis in complex regional pain syndrome patients is complicated and should be investigated and monitored. Physical activity is possible for some complex regional pain syndrome patients, depending on the type of exercise and the region affected, and it may protect bone density and strength at non affected skeletal sites.

  6. Risk Factors for Post-treatment Complex Regional Pain Syndrome (CRPS)

    DEFF Research Database (Denmark)

    Petersen, Pelle B; Mikkelsen, Kim Lyngby; Lauritzen, Jes B

    2018-01-01

    OBJECTIVES: Complex regional pain syndrome is a challenging condition that includes a broad spectrum of sensory, autonomic, and motor features predominantly in extremities recovering from a trauma. Few large-scale studies have addressed occurrence of and factors associated with complex regional...... pain syndrome (CRPS) following orthopedic treatment. The present study aimed to identify factors associated with post-treatment development of CRPS. METHODS: Using the Danish Patient Compensation Association's database, we identified 647 patients claiming post-treatment CRPS between 1992 and 2015. Age......, gender, initial diagnosis, treatment, and amount of compensation were extracted. Multivariate logistic regressions were performed to identify variables associated with approval of the claim. For carpal tunnel syndrome (CTS) patients, we registered whether symptoms were bilateral or unilateral...

  7. Age is a critical risk factor for severe fever with thrombocytopenia syndrome.

    Directory of Open Access Journals (Sweden)

    Shujun Ding

    Full Text Available Severe Fever with Thrombocytopenia Syndrome (SFTS is an emerging infectious disease in East Asia. SFTS is a tick borne hemorrhagic fever caused by SFTSV, a new bunyavirus named after the syndrome. We investigated the epidemiology of SFTS in Laizhou County, Shandong Province, China.We collected serum specimens of all patients who were clinically diagnosed as suspected SFTS cases in 2010 and 2011 in Laizhou County. The patients' serum specimens were tested for SFTSV by real time fluorescence quantitative PCR (RT-qPCR. We collected 1,060 serum specimens from healthy human volunteers by random sampling in Laizhou County in 2011. Healthy persons' serum specimens were tested for specific SFTSV IgG antibody by ELISA.71 SFTS cases were diagnosed in Laizhou County in 2010 and 2011, which resulted in the incidence rate of 4.1/100,000 annually. The patients ranged from 15 years old to 87 years old and the median age of the patients were 59 years old. The incidence rate of SFTS was significantly higher in patients over 40 years old and fatal cases only occurred in patients over 50 years old. 3.3% (35/1,060 of healthy people were positive to SFTSV IgG antibody. The SFTSV antibody positive rate was not significantly different among people at different age groups.Our results revealed that seroprevalence of SFTSV in healthy people in Laizhou County was not significantly different among age groups, but SFTS patients were mainly elderly people, suggesting that age is the critical risk factor or determinant for SFTS morbidity and mortality.

  8. A new microduplication syndrome encompassing the region of the Miller-Dieker (17p13 deletion) syndrome

    DEFF Research Database (Denmark)

    Roos, L; Jønch, A E; Kjaergaard, S

    2009-01-01

    BACKGROUND: The use of array comparative genome hybridisation (CGH) analyses for investigation of children with mental retardation has led to the identification of a growing number of new microdeletion and microduplication syndromes, some of which have become clinically well characterised and some...... that await further delineation. This report describes three children with de novo 17p13.1 duplications encompassing the PAFAH1B1 gene, who had similar phenotypic features, including mild to moderate developmental delay, hypotonia and facial dysmorphism, and compares them to the few previously reported cases...... to patients with deletion of the region (Miller-Dieker syndrome) the patients reported here had mild to moderate retardation and displayed no lissencephaly or gross brain malformations. Further cases with similar duplications are expected to be diagnosed, and will contribute to the delineation of a potential...

  9. Neonatal and pediatric regionalized systems in pediatric emergency mass critical care.

    Science.gov (United States)

    Barfield, Wanda D; Krug, Steven E; Kanter, Robert K; Gausche-Hill, Marianne; Brantley, Mary D; Chung, Sarita; Kissoon, Niranjan

    2011-11-01

    Improved health outcomes are associated with neonatal and pediatric critical care in well-organized, cohesive, regionalized systems that are prepared to support and rehabilitate critically ill victims of a mass casualty event. However, present systems lack adequate surge capacity for neonatal and pediatric mass critical care. In this document, we outline the present reality and suggest alternative approaches. In May 2008, the Task Force for Mass Critical Care published guidance on provision of mass critical care to adults. Acknowledging that the critical care needs of children during disasters were unaddressed by this effort, a 17-member Steering Committee, assembled by the Oak Ridge Institute for Science and Education with guidance from members of the American Academy of Pediatrics, convened in April 2009 to determine priority topic areas for pediatric emergency mass critical care recommendations.Steering Committee members established subcommittees by topic area and performed literature reviews of MEDLINE and Ovid databases. The Steering Committee produced draft outlines through consensus-based study of the literature and convened October 6-7, 2009, in New York, NY, to review and revise each outline. Eight draft documents were subsequently developed from the revised outlines as well as through searches of MEDLINE updated through March 2010.The Pediatric Emergency Mass Critical Care Task Force, composed of 36 experts from diverse public health, medical, and disaster response fields, convened in Atlanta, GA, on March 29-30, 2010. Feedback on each manuscript was compiled and the Steering Committee revised each document to reflect expert input in addition to the most current medical literature. States and regions (facilitated by federal partners) should review current emergency operations and devise appropriate plans to address the population-based needs of infants and children in large-scale disasters. Action at the state, regional, and federal levels should address

  10. Light Scattering Tests of Fundamental Theories of Transport Properties in the Critical Region

    Science.gov (United States)

    Gammon, R. W.; Moldover, M. R.

    1985-01-01

    The objective of this program is to measure the decay rates of critical density fluctuations in a simple fluid (xenon) very near its liquid-vapor critical point using laser light scattering and photon correlation spectroscopy. Such experiments have been severely limited on Earth by the presence of gravity which causes large density gradients in the sample when the compressibility diverges approaching the critical point. The goal is to measure decay rates deep in the critical region where the scaled wavevector is the order of 1000. This will require loading the sample to 0.01% of the critical density and taking data as close as 3 microKelvin to the critical temperature (Tc = 289.72 K). Other technical problems have to be addressed such as multiple scattering and the effect of wetting layers. The ability to avoid multiple scattering by using a thin sample (100 microns) was demonstrated, as well as a temperature history which can avoid wetting layers satisfactory temperature control and measurement, and accurate sample loading. Thus the questions of experimental art are solved leaving the important engineering tasks of mounting the experiment to maintain alignment during flight and automating the state-of-the-art temperature bridges for microcomputer control of the experiment.

  11. Evidence for local inflammation in complex regional pain syndrome type 1

    Directory of Open Access Journals (Sweden)

    Frank J. P. M. Huygen

    2002-01-01

    Full Text Available Background: The pathophysiology of complex regional pain syndrome type 1 (CRPS 1 is still a matter of debate. Peripheral afferent, efferent and central mechanisms are supposed. Based on clinical signs and symptoms (e.g. oedema, local temperature changes and chronic pain local inflammation is suspected.

  12. Normal sensorimotor plasticity in complex regional pain syndrome with fixed posture of the hand.

    Science.gov (United States)

    Morgante, Francesca; Naro, Antonino; Terranova, Carmen; Russo, Margherita; Rizzo, Vincenzo; Risitano, Giovanni; Girlanda, Paolo; Quartarone, Angelo

    2017-01-01

    Movement disorders associated with complex regional pain syndrome type I have been a subject of controversy over the last 10 years regarding their nature and pathophysiology, with an intense debate about the functional (psychogenic) nature of this disorder. The aim of this study was to test sensorimotor plasticity and cortical excitability in patients with complex regional pain syndrome type I who developed a fixed posture of the hand. Ten patients with complex regional pain syndrome type I in the right upper limb and a fixed posture of the hand (disease duration less than 24 months) and 10 age-matched healthy subjects were enrolled. The following parameters of corticospinal excitability were recorded from the abductor pollicis brevis muscle of both hands by transcranial magnetic stimulation: resting and active motor thresholds, short-interval intracortical inhibition and facilitation, cortical silent period, and short- and long-latency afferent inhibition. Sensorimotor plasticity was tested using the paired associative stimulation protocol. Short-interval intracortical inhibition and long-latency afferent inhibition were reduced only in the affected right hand of patients compared with control subjects. Sensorimotor plasticity was comparable to normal subjects, with a preserved topographic specificity. Our data support the view that motor disorder in complex regional pain syndrome type I is not associated with abnormal sensorimotor plasticity, and it shares pathophysiological abnormalities with functional (psychogenic) dystonia rather than with idiopathic dystonia. © 2016 International Parkinson and Movement Disorder Society. © 2016 International Parkinson and Movement Disorder Society.

  13. Clinical features and pathophysiology of Complex Regional Pain Syndrome ? current state of the art

    OpenAIRE

    Marinus, Johan; Moseley, G. Lorimer; Birklein, Frank; Baron, Ralf; Maih?fner, Christian; Kingery, Wade S.; van Hilten, Jacobus J.

    2011-01-01

    That a minor injury can trigger a complex regional pain syndrome (CRPS) - multiple system dysfunction, severe and often chronic pain and disability - has fascinated scientists and perplexed clinicians for decades. However, substantial advances across several medical disciplines have recently increased our understanding of CRPS. Compelling evidence implicates biological pathways that underlie aberrant inflammation, vasomotor dysfunction, and maladaptive neuroplasticity in the clinical features...

  14. 'Cold Case': Vascular dysregulation in the chronic Complex Regional Pain Syndrome

    NARCIS (Netherlands)

    J.G. Groeneweg (George)

    2009-01-01

    textabstractThe aim of this thesis was to study the nature of the vascular alterations in patients with cold chronic Complex Regional Pain Syndrome. CRPS usually develops as a disproportionate consequence of trauma and is characterised by spontaneous pain, movement disorders and abnormal regulation

  15. Therapy-Resistant Complex Regional Pain Syndrome Type I : To Amputate or Not?

    NARCIS (Netherlands)

    Bodde, M.I.; Dijkstra, P.U.; den Dunnen, W.F.A.; Geertzen, J.H.B.

    2011-01-01

    Background: Amputation for the treatment of long-standing, therapy-resistant complex regional pain syndrome type I (CRPS-I) is controversial. An evidence-based decision regarding whether or not to amputate is not possible on the basis of current guidelines. The aim of the current study was to

  16. Samara region experience in organization of emergency care system for patients with acute coronary syndrome

    Directory of Open Access Journals (Sweden)

    Duplyakov D.V.

    2015-09-01

    Full Text Available The article presents the general features of healthcare program for patients with acute coronary syndrome which started in Samara region in 2007. Some results and perspectives of future development of Samara “myocardial infarction network” are elucidated.

  17. Lawsuit verdicts and settlements involving reflex sympathetic dystrophy and complex regional pain syndrome.

    Science.gov (United States)

    Crick, Brian C; Crick, John C

    2011-01-01

    Litigation involving Reflex Sympathetic Dystrophy (RSD) or Complex Regional Pain Syndrome (CRPS), because of its complexities, is often difficult to prove or defend. In our review of 56 verdicts and settlements in the state of Florida, in cases involving a diagnosis or misdiagnosis of RSD or CRPS, over half resulted in a substantial verdict or settlement for the plaintiff.

  18. Predictors of Pain Relieving Response to Sympathetic Blockade in Complex Regional Pain Syndrome Type 1

    NARCIS (Netherlands)

    van Eijs, F.; Geurts, J.; van Kleef, M.; Faber, C.G.; Perez, R.S.G.M.; Kessels, A.G.; van Zundert, J.

    2012-01-01

    BACKGROUND:: Sympathetic blockade with local anesthetics is used frequently in the management of complex regional pain syndrome type 1(CRPS-1), with variable degrees of success in pain relief. The current study investigated which signs or symptoms of CRPS-1 could be predictive of outcome. The

  19. Safety of "pain exposure" physical therapy in patients with complex regional pain syndrome type 1.

    NARCIS (Netherlands)

    Meent, H. van de; Oerlemans, M.; Bruggeman, A.W.A.; Klomp, F.; Dongen, R.T.M. van; Oostendorp, R.A.B.; Frolke, J.P.M.

    2011-01-01

    "Pain exposure" physical therapy (PEPT) is a new treatment for patients with complex regional pain syndrome type 1 (CRPS-1) that consists of a progressive-loading exercise program and management of pain-avoidance behavior without the use of specific CRPS-1 medication or analgesics. The aim of this

  20. Stressful life events and psychological dysfunction in complex regional pain syndrome type I

    NARCIS (Netherlands)

    Geertzen, JHB; de Bruijn-Kofman, AT; de Bruijn, HP; van de Wiel, HBM; Dijkstra, PU

    Objective: To determine to what extent stressful life events and psychological dysfunction play a role in the pathogenesis of Complex Regional Pain Syndrome type I (CRPS). Design: A comparative study between a CRPS group and a control group. Stressful life events and psychological dysfunction

  1. Effects of white-nose syndrome on regional population patterns of 3 hibernating bat species

    Science.gov (United States)

    Thomas E. Ingersoll; Brent J. Sewall; Sybill K. Amelon

    2016-01-01

    Hibernating bats have undergone severe recent declines across the eastern United States, but the cause of these regional-scale declines has not been systematically evaluated. We assessed the influence of white-nose syndrome (an emerging bat disease caused by the fungus Pseudogymnoascus destructans, formerly Geomyces destructans...

  2. Fixed Dystonia in Complex Regional Pain Syndrome : A Descriptive and Computational Modeling Approach

    NARCIS (Netherlands)

    Munts, A.G.; Mugge, W.; Meurs, T.S.; Schouten, A.C.; Marinus, J.; Lorimer Moseley, G.; Van der Helm, F.C.T.; Van Hilten, J.J.

    2011-01-01

    Background: Complex regional pain syndrome (CRPS) may occur after trauma, usually to one limb, and is characterized by pain and disturbed blood flow, temperature regulation and motor control. Approximately 25% of cases develop fixed dystonia. Involvement of dysfunctional GABAergic interneurons has

  3. Still's Disease and Recurrent Complex Regional Pain Syndrome Type-I: The First Description

    Science.gov (United States)

    Faillace, César; de Carvalho, Jozélio Freire

    2012-01-01

    Complex regional pain syndrome (CRPS) is a chronic neuropathic pain disorder characterized by neuropathic pain associated with local edema and changes suggestive of autonomic involvement such as altered sweating, skin color, and skin temperature of the affected region. CRPS was described associated with several diseases, such as trauma, psychiatric conditions, and cancer. However, no case associated with Still's disease has been previously described. In this paper, the authors describe the first case of CRPS associated with Still's disease. PMID:22162802

  4. Calculation of critical fault recovery time for nonlinear systems based on region of attraction analysis

    DEFF Research Database (Denmark)

    Tabatabaeipour, Mojtaba; Blanke, Mogens

    2014-01-01

    In safety critical systems, the control system is composed of a core control system with a fault detection and isolation scheme together with a repair or a recovery strategy. The time that it takes to detect, isolate, and recover from the fault (fault recovery time) is a critical factor in safety...... of a system. It must be guaranteed that the trajectory of a system subject to fault remains in the region of attraction (ROA) of the post-fault system during this time. This paper proposes a new algorithm to compute the critical fault recovery time for nonlinear systems with polynomial vector elds using sum...... of squares programming. The proposed algorithm is based on computation of ROA of the recovered system and nite-time stability of the faulty system....

  5. Comparative Study of Ultrasonographic and Anthropometric Measurements of Regional Adiposity in Metabolic Syndrome

    Science.gov (United States)

    Ibrahim, Jebin; Prasanthi, Krishna; Reddy, Harish T; Shah, Rushit Sandeep; Haritha, Ch

    2017-01-01

    Introduction Metabolic syndrome is complex disorder unifying dyslipidemia, insulin resistance and hyper insulinemia. Rising global epidemic of obesity has tremendous impact on metabolic syndrome. Ultrasound is becoming widely utilized modality for measuring the visceral adiposity. Aim To determine the usefulness of ultrasonographic measurements in the estimation of regional adiposity and to compare them with anthropometric measurements and to correlate ultrasonographic measurements of regional adiposity and metabolic syndrome. Materials and Methods A cross-sectional study was conducted to compare anthropometry and ultrasonography in assessing the regional adiposity in metabolic syndrome. A total of 105 consecutive participants were included in the study after scrutinizing them for various definable factors of metabolic syndrome. Body Mass Index (BMI) of all participants was calculated and their available serological investigations were gathered. Primarily participants were subjected for anthropometric measurements like waist circumference and hip circumference, further waist/hip ratio was calculated. Following which all participants underwent sonological examination and sonographic indices like intraabdominal fat thickness, preperitoneal fat thickness, minimum and maximum subcutaneous fat thicknesses were measured. Abdominal wall fat index was calculated as ratio of maximum preperitoneal fat thickness to minimum subcutaneous fat thickness. Statistical analysis was performed using SPSS (Statistical Package Social Science, version-10.0.5) software. A p-value was calculated and values <0.05 were considered as statistically significant. Results Significant correlation was established between the BMI and waist and hip circumferences. Mild positive correlation was obtained between BMI and sonographic indices like IAF, SCF and PPF with Pearson correlation (r) values of 0.324, 0.585 and 0.211 respectively. Anthropometric measurements showed higher r-values (WC- 0.624 and

  6. TRITON, 3-D Multi-Region Neutron Diffusion Burnup with Criticality Search

    International Nuclear Information System (INIS)

    1974-01-01

    1 - Nature of physical problem solved: TRITON is a multigroup diffusion depletion program in three dimensions (x,y,z). In addition to the straight K eff calculation, three types of criticality searches are possible - diluted control isotope search, region-wise smeared control isotope search, region-wise smeared control isotope search, region-wise smeared control isotope boundary search (the control isotope can be smeared over one region or over a group of regions called a control bank). The depletion equations are solved region-wise. More than one microscopic cross section library can be used in the various regions of the reactor. The same is true for self-shielding factors. Such sets of data can be changed at pre-determined time steps. 2 - Method of solution: The mathematical model employed for the solution of the finite difference equations, which is derived from a seven-point approximation of diffusion equations, is an on-line Chebyshev semi- iterative method. 3 - Restrictions on the complexity of the problem: Maximum number of: library sets: 1; self-shielding sets: 10; compositions: 100; self-shielding coefficients: 6000; groups: 10; fuel isotopes: 30; fission products: 29; isotopes: 50; burnable isotopes: 40; control banks: 100; mesh points: 15000; regions: 400; time steps: 100; control areas: 100; small time steps: 200; elements in the control list: 400; x planes: 100; y planes: 100; z planes: 100

  7. Human papillomavirus vaccines, complex regional pain syndrome, postural orthostatic tachycardia syndrome, and autonomic dysfunction - a review of the regulatory evidence from the European Medicines Agency

    DEFF Research Database (Denmark)

    Jefferson, Tom; Jørgensen, Lars

    2017-01-01

    Recent concerns about a possible association between exposure of young women to human papillomavirus (HPV) vaccines and two "dysautonomic syndromes" (a collection of signs and symptoms thought to be caused by autoimmunity) - complex regional pain syndrome (CRPS) and postural orthostatic tachycard...

  8. Intersecting Itineraries Beyond the Strada Novissima: The Converging Authorship of Critical Regionalism

    Directory of Open Access Journals (Sweden)

    Stylianos Giamarelos

    2016-07-01

    Full Text Available While the 1980 Venice Biennale is usually understood as the exhibition that crystallised postmodernism as a style of historicist eclecticism, the event also acted as a catalyst for the eventual convergence of alternative architectural sensibilities and ideas. This article shows how critical regionalism emerged when the physical and intellectual trajectories of British historian Kenneth Frampton and the Greek architects Suzana Antonakaki and Dimitris Antonakakis intersected in the aftermath of the Biennale. Offering an alternative way out of the contemporaneous crisis of modernism, this open-ended and extrovert regionalism that opposed static cultural insularities is thus the discursive footprint of architectural sensibilities travelling through cultures.

  9. A global fundamental equation of state for normal hexane in the critical region

    Energy Technology Data Exchange (ETDEWEB)

    Abbaci, Azzedine, E-mail: azzedine.abbaci@univ-annaba.org [Laboratoire de Synthèse et de Biocatalyse Organique, Unité Thermodynamique des Fluides et des Mélanges, Faculté des Sciences, Département de Chimie, Université Badji Mokhtar, BP 12, Sidi-Amar, Annaba 23000 (Algeria); Rizi, Aicha [Laboratoire de Synthèse et de Biocatalyse Organique, Unité Thermodynamique des Fluides et des Mélanges, Faculté des Sciences, Département de Chimie, Université Badji Mokhtar, BP 12, Sidi-Amar, Annaba 23000 (Algeria); Abdulagatov, Ilmutdin M. [Institute of Physics of the Dagestan Scientific Center of the Russian Academy of Sciences, 367005 Makhachkala, M. Yaragskogo Str. 94, Dagestan (Russian Federation)

    2013-09-10

    Highlights: ► The crossover Landau model is used to predict the thermodynamic properties of normal hexane. ► Thermodynamic properties of normal are studied. ► Comparison with different thermodynamic properties is done. - Abstract: In our previous work [S. Azzouz, A. Rizi, A. Acidi, A. Abbaci, St. Cerc. St. CICBIA 11 (2) (2010) 235–241], we developed an interim thermodynamic property formulation for the supercritical n-hexane which incorporates non-analytic scaling laws in the critical region and reproduces the thermodynamic properties of n-hexane far away from the critical region. However, it appears that this equation of state gives unphysical values for critical amplitudes such as that of the compressibility above the critical point. In this work, we present a modification of this equation of state based on the pressure data of Grigoriev et al. group and those of Abdulagatov, the isochoric specific heat data of Amirkhanov et al. as well as the isobaric specific heat of Gerasimov et al. Comparison with different sets of thermodynamic-property data available is given.

  10. Analysis and prediction of the critical regions of antimicrobial peptides based on conditional random fields.

    Science.gov (United States)

    Chang, Kuan Y; Lin, Tung-pei; Shih, Ling-Yi; Wang, Chien-Kuo

    2015-01-01

    Antimicrobial peptides (AMPs) are potent drug candidates against microbes such as bacteria, fungi, parasites, and viruses. The size of AMPs ranges from less than ten to hundreds of amino acids. Often only a few amino acids or the critical regions of antimicrobial proteins matter the functionality. Accurately predicting the AMP critical regions could benefit the experimental designs. However, no extensive analyses have been done specifically on the AMP critical regions and computational modeling on them is either non-existent or settled to other problems. With a focus on the AMP critical regions, we thus develop a computational model AMPcore by introducing a state-of-the-art machine learning method, conditional random fields. We generate a comprehensive dataset of 798 AMPs cores and a low similarity dataset of 510 representative AMP cores. AMPcore could reach a maximal accuracy of 90% and 0.79 Matthew's correlation coefficient on the comprehensive dataset and a maximal accuracy of 83% and 0.66 MCC on the low similarity dataset. Our analyses of AMP cores follow what we know about AMPs: High in glycine and lysine, but low in aspartic acid, glutamic acid, and methionine; the abundance of α-helical structures; the dominance of positive net charges; the peculiarity of amphipathicity. Two amphipathic sequence motifs within the AMP cores, an amphipathic α-helix and an amphipathic π-helix, are revealed. In addition, a short sequence motif at the N-terminal boundary of AMP cores is reported for the first time: arginine at the P(-1) coupling with glycine at the P1 of AMP cores occurs the most, which might link to microbial cell adhesion.

  11. Critical density gradients for small-scale plasma irregularity generation in the E and F regions

    Science.gov (United States)

    Makarevich, Roman A.

    2017-09-01

    Electron density gradients that can make plasma unstable in the ionospheric E and F regions are analyzed. We focus on critical gradient values required for plasma instability to become operational to produce decameter-scale plasma irregularities observed by the Super Dual Auroral Radar Network (SuperDARN) without any nonlinear wave cascade. Analytic expressions are developed for the critical gradients using a recently developed general formalism for arbitrary geometry and with the ion inertia and stabilizing thermal diffusion effects included. It is demonstrated that the problem can be analyzed using a single equation applicable in both the E and F regions that only differs in the sign of the main term related to convection strength. Analytic expressions are obtained, and results are presented for (1) critical gradient strength for arbitrary gradient and propagation directions, (2) range of propagation directions with unstable primary waves, (3) most favorable configuration and minimum critical gradient, and (4) most favorable propagation direction for arbitrary gradient direction. It is shown that the most favorable configuration is achieved for propagation along the differential drift and gradient perpendicular to it and that an unexpected exception is the F region under strong convection when propagation and gradient are both rotated by a certain angle. It is estimated that in the F region, from which most of the SuperDARN backscatter comes, primary decameter waves can be generated for gradient scales as large as 100 km for favorable orientations and strong plasma convection >500 m/s and that much smaller scales of 200-1000 m are required for unfavorable orientations.

  12. Towards a transcription map spanning a 250 kb area within the DiGeorge syndrome chromosome region

    Energy Technology Data Exchange (ETDEWEB)

    Wong, W.; Emanuel, B.S.; Siegert, J. [Children`s Hospital of Philadelphia, PA (United States)] [and others

    1994-09-01

    DiGeorge syndrome (DGS) and velocardiofacial syndrome (VCFS) are congenital anomalies affecting predominantly the thymus, parathyroid glands, heart and craniofacial development. Detection of 22q11.2 deletions in the majority of DGS and VCFS patients implicate 22q11 haploinsufficiency in the etiology of these disorders. The VCFS/DGS critical region lies within the proximal portion of a commonly deleted 1.2 Mb region in 22q11. A 250 kb cosmid contig covering this critical region and containing D22S74 (N25) has been established. From this contig, eleven cosmids with minimal overlap were biotinylated by nick translation, and hybridized to PCR-amplified cDNAs prepared from different tissues. The use of cDNAs from a variety of tissues increases the likelihood of identifying low abundance transcripts and tissue-specific expressed sequences. A DGCR-specific cDNA sublibrary consisting of 670 cDNA clones has been constructed. To date, 49 cDNA clones from this sub-library have been identified with single copy probes and cosmids containing putative CpG islands. Based on sequence analysis, 25 of the clones contain regions of homology to several cDNAs which map within the proximal contig. LAN is a novel partial cDNA isolated from a fetal brain library probed with one of the cosmids in the proximal contig. Using LAN as a probe, we have found 19 positive clones in the DGCR-specific cDNA sub-library (4 clones from fetal brain, 14 from adult skeletal muscle and one from fetal liver). Some of the LAN-positive clones extend the partial cDNA in the 5{prime} direction and will be useful in assembling a full length transcript. This resource will be used to develop a complete transcriptional map of the critical region in order to identify candidate gene(s) involved in the etiology of DGS/VCFS and to determine the relationship between the transcriptional and physical maps of 22q11.

  13. The metabolic syndrome: a critical appraisal based on the CUORE epidemiologic study.

    Science.gov (United States)

    Giampaoli, Simona; Stamler, Jeremiah; Donfrancesco, Chiara; Panico, Salvatore; Vanuzzo, Diego; Cesana, Giancarlo; Mancia, Giuseppe; Pilotto, Lorenza; Mattiello, Amalia; Chiodini, Paolo; Palmieri, Luigi

    2009-06-01

    Multiple aspects of the metabolic syndrome (MetS) remain problematic. Here we assess the association between epidemic obesity and the other MetS traits, and MetS utility for cardiovascular disease (CVD) risk assessment. Italian population-based Progetto CUORE data were used: 17 252 women and men ages 35-69 years, baseline 1984-1993, mean follow-up of 10 years, for nonfatal plus fatal CVD events. NCEP-ATP III criteria defined MetS. Epidemic obesity was strongly related to epidemic rates of the four other MetS traits. Only four of 16 possible MetS trait combinations were common; their CVD hazard ratios ranged from 1.21 to 1.70. In multivariate analyses MetS was no better than the sum of its parts in predicting CVD, important information was lost due to omission of non-HDL-C and smoking, and from considering MetS traits as yes/no variables. CVD risk prediction by MetS was less strong for men and no stronger for women than by classical risk factors (blood pressure, diabetes, serum cholesterol, smoking, overweight/obesity). These findings are concordant with the inference that epidemic obesity importantly influences epidemic occurrence of the other MetS traits; they also indicate that use of MetS for CVD risk assessment has limitations and needs critical reconsideration.

  14. Complex regional pain syndrome type 1 mimicking Raynaud’s phenomenon

    Directory of Open Access Journals (Sweden)

    Serpil Tuna

    2014-09-01

    Full Text Available Complex regional pain syndrome type 1 (CRPS-1 is a chronic pain syndrome characterized by severe pain, swelling, autonomic dysfunction and dystrophic changes in affected extremity. RSDS is a rare disease in children and usually occurs after trauma, however, without trauma may also occur. We were detected CRPS-1 activated by cold and stress and characterized by recurrent attacks in the bilateral upper extremities in 14 year-old girl, which is similar to Raynaud’s phenomenon. We present this case with the literature because of its rarity and atypical course.

  15. Current management of reflex sympathetic dystrophy syndrome (complex regional pain syndrome type I).

    Science.gov (United States)

    Berthelot, Jean-Marie

    2006-10-01

    Although no major advances have occurred in the curative treatment of reflex sympathetic dystrophy syndrome (RSDS), new pathogenic insights may soon lead to innovative approaches, which may also prove effective in alleviating some forms of neuropathic pain. Preventing nerve compression and ischemia-reperfusion injury constitute valuable measures for preventing RSDS. Vitamin C administration can also prevent RSDS, together with clonidine in high-risk patients. Short-term glucocorticoid therapy has been found effective in preventing RSDS after stroke but has not been evaluated in other situations. Beneficial effects of bisphosphonates have been documented in several placebo-controlled trials. Placebo-controlled trials of ketamine and spinal cord stimulation are in order to confirm or refute the promising results obtained in open-label studies. Mirror visual feedback was introduced recently for the rehabilitation of patients with RSDS but needs to be evaluated in randomized controlled trials.

  16. Isolation of a yeast artificial chromosome contig spanning the Greig cephalopolysyndactyly syndrome (GCPS) gene region

    OpenAIRE

    Vortkamp, Andrea; Gessler, Manfred; Paslier, D. Le; Elaswarapu, R.; Smith, S.; Grzeschik, Karl-Heinz

    2009-01-01

    Disruption of the zinc finger gene GLI3 has been shown to be the cause of Greig cephalopolysyndactyly syndrome (GCPS), at least in some GCPS translocation patients. To characterize this genomic region on human chromosome 7p13, we have isolated a VAC contig of more than 1000 kb including the GLI3 gene. In this contig the gene itself spans at least 200-250 kb. A CpG island is located in the vicinity of the 5' region of the known GLI3 cDNA, implying a potential promoter region.

  17. [Regional anaesthesia may be used in selected acute compartment syndrome patients.

    DEFF Research Database (Denmark)

    Jensen, Christine; Kristensen, Billy B

    2011-01-01

    Acute compartment syndrome (ACS) is a serious condition which, if not treated promptly, can cause severe disability or even death. Regional anaesthesia (epidural analgesia or peripheral nerve blocks) is increasingly used in postoperative pain management in orthopaedic surgery, but has been presumed...... to mask the symptoms of ACS. We present a short review of the current literature relating regional anaesthesia to a delayed diagnosis of ACS and find no convincing evidence that regional anaesthesia is unsafe in patients with a high risk of ACS. Udgivelsesdato: 2011-Jan-31...

  18. Algo-dysfunctional syndromes: a critical digest of the recent literature.

    Science.gov (United States)

    Talotta, Rossella; Atzeni, Fabiola; Bazzichi, Laura; Giacomelli, Camillo; Di Franco, Manuela; Salaffi, Fausto; Sarzi-Puttini, Piercarlo

    2015-01-01

    The etiopathogenesis of the algo-dysfunctional syndromes, which include chronic fatigue syndrome, fibromyalgia and irritable bowel syndrome, is still debated, but it is widely accepted that it is best described by a multifactorial model that include genes, environmental factors such as external infections, inflammation, dietary habits, impaired endogenous cortisol production, the aberrant activation of some areas of the central nervous system, and small peripheral nervous fibre damage. This complexity suggests that they should be managed by means of a multidisciplinary approach involving the use of both pharmacological and non-pharmacological treatments. The aim of this review is to discuss the most recent scientific acquisitions concerning these syndromes and their treatment.

  19. Psychiatric and neuropsychological issues in Marfan syndrome: A critical review of the literature.

    Science.gov (United States)

    Gritti, Antonella; Pisano, Simone; Catone, Gennaro; Iuliano, Raffaella; Salvati, Tiziana; Gritti, Paolo

    2015-01-01

    The cooccurrence of Marfan syndrome and psychiatric disorders has been reported for many years. Furthermore, neuropsychological deficits have been shown to be associated with Marfan syndrome. The aim of the present article is to summarize findings from the sparse studies and case reports available. The results hold clinical and therapeutic implications and suggest that psychological and neuropsychological domains in Marfan syndrome patients should be carefully assessed. In particular, some patients may require specific rehabilitation programs. On this basis, a multidisciplinary approach to Marfan syndrome treatment seems mandatory. © The Author(s) 2015.

  20. Cloning of the human heparan sulfate-N-deacetylase/N-sulfotransferase gene from the Treacher Collins syndrome candidate region at 5q32-q33.1

    Energy Technology Data Exchange (ETDEWEB)

    Dixon, J.; Loftus, S.K.; Gladwin, A.J. [Univ. of Manchester (United Kingdom)] [and others

    1995-03-20

    Treacher Collins syndrome is an autosomal dominant disorder of craniofacial development, the features of which include conductive hearing loss and cleft palate. Previous studies have shown that the Treacher Collins syndrome locus is flanked by D5S519 and SPARC, and a yeast artificial chromosome contig encompassing this {open_quotes}critical region{close_quotes} has been completed. In the current investigation a cosmid containing D5S519 has been used to screen a human placental cDNA library. This has resulted in the cloning of the human heparan sulfate-N-deacetylase/N-sulfotransferase gene. Two different mRNA species that have identical protein coding sequences but that differ in the size and sequence of the 3{prime} untranslated regions (3{prime}UTR) have been identified. The smaller species has a 3{prime}UTR of 1035 bp, whereas that of the larger is 4878 bp. 24 refs., 3 figs.

  1. Bilateral complex regional pain syndrome following spinal cord injury and bilateral calcaneus fracture

    Directory of Open Access Journals (Sweden)

    Ahmet Boyacı

    2013-09-01

    Full Text Available Complex regional pain syndrome (CRPS is a disease affectingone or more extremities, characterized by spontaneouspain, allodynia, hyperpathia and hyperalgesia.CRPS is separated into Type 1 and Type 2. CRPS whichdevelops after a nociceptive event is labeled as Type 1and when it develops following peripheral nerve damage,Type 2. Although the pathogenesis is not fully understood,peripheral and central sensitivity are held responsible.Bilateral lower extremity involvement is extremely rare.However, it should be borne in mind that it can develop intraumatic injuries which occur in more than one area anddiagnosis and commencement of a rehabilitation programshould be made in the early period. The case is presentedhere of bilateral Type 1 CRPS developing after incompletespinal cord injury and bilateral calcaneus fracture. JClin Exp Invest 2013; 4 (3: 360-363Key words: complex regional pain syndrome, calcaneusfracture, spinal cord injury

  2. Hepatorenal Syndrome. Literature Revision and critical analysis of the diagnoses criterion

    International Nuclear Information System (INIS)

    Villanueva, Ignacio

    2004-01-01

    Hepatorenal syndrome a review of literature and critique analysis of diagnostic criteria; the hepatorenal syndrome is a functional renal failure that occurs in patients with severe liver disease and portal hypertension. Its pathophysiology is not clear and theme of several studies. New diagnostic criteria, pathophysiology and treatments are reviewed in this article

  3. Complex Regional Pain Syndrome following an Episode of Herpes Zoster: A Case Report

    OpenAIRE

    Marrero, Christopher E; Mclean, Neuyen; Varnado, Keyana

    2017-01-01

    Introduction: Complex regional pain syndrome (CRPS) is characterized by searing pain, hyperalgesia, edema, allodynia, and skin changes. CRPS may be difficult to diagnose and to treat given poorly understood mechanisms as well as its presentation of symptoms that may mimic common conditions such as joint stiffness in this condition as well as rheumatoid arthritis. Case Report: A 71-year-old female presented to our clinic post shingles of the right upper extremity. We diagnosed her with CRPS ba...

  4. Identify fracture-critical regions inside the proximal femur using statistical parametric mapping

    Science.gov (United States)

    Li, Wenjun; Kornak, John; Harris, Tamara; Keyak, Joyce; Li, Caixia; Lu, Ying; Cheng, Xiaoguang; Lang, Thomas

    2009-01-01

    We identified regions inside the proximal femur that are most strongly associated with hip fracture. Bone densitometry based on such fracture-critical regions showed improved power in discriminating fracture patients from controls. Introduction Hip fractures typically occur in lateral falls, with focal mechanical failure of the sub-volumes of tissue in which the applied stress exceeds the strength. In this study, we describe a new methodology to identify proximal femoral tissue elements with highest association with hip fracture. We hypothesize that bone mineral density (BMD) measured in such sub-volumes discriminates hip fracture risk better than BMD in standard anatomic regions such as the femoral neck and trochanter. Materials and Methods We employed inter-subject registration to transform hip QCT images of 37 patients with hip fractures and 38 age-matched controls into a voxel-based statistical atlas. Within voxels, we performed t-tests between the two groups to identify the regions which differed most. We then randomly divided the 75 scans into a training set and a test set. From the training set, we derived a fracture-driven region of interest (ROI) based on association with fracture. In the test set, we measured BMD in this ROI to determine fracture discrimination efficacy using ROC analysis. Additionally, we compared the BMD distribution differences between the 29 patients with neck fractures and the 8 patients with trochanteric fractures. Results By evaluating fracture discrimination power based on ROC analysis, the fracture-driven ROI had an AUC (area under curve) of 0.92, while anatomic ROIs (including the entire proximal femur, the femoral neck, trochanter and their cortical and trabecular compartments) had AUC values between 0.78 and 0.87. We also observed that the neck fracture patients had lower BMD (p=0.014) in a small region near the femoral neck and the femoral head, and patients with trochanteric fractures had lower BMD in trochanteric regions

  5. Critical region of a type II superconducting film near Hsub(c2): rational approximants

    International Nuclear Information System (INIS)

    Ruggeri, G.J.

    1979-01-01

    The high-temperature perturbative expansions for the thermal quantities of a type II superconducting film are extrapolated to the critical region near Hsub(c2) by means of new rational approximants of the Pade type. The new approximants are forced to reproduce the leading correction to the flux lattice contribution on the low-temperature side of the transition. Compared to those previously considered in the literature: (i) the mutual consistency of the approximants is improved; and (ii) they are nearer to the exact solution of the zero-dimensional Landau-Ginsburg model. (author)

  6. 57Fe Moessbauer studies on Ni-Mo system in the critical region

    International Nuclear Information System (INIS)

    Das, D.; Chintalapudi, S.N.; Mukhopadhyay, P.K.; Mookerjee, A.; Mukherjee, G.D.

    2001-01-01

    Disordered magnetic system NiMo is investigated in the critical region (Mo concentration 10 and 11 wt %) using Moessbauer spectroscopy as a local probe. 57 Co activity has been diffused in the alloy and is used at the source while stainless steel is used as standard absorber. Moessbauer spectrum of the alloy showed a sharp singlet at room temperature which indicates that 57 Co atoms have gone to the substitutional site. Below 200 K, Moessbauer spectra indicate complicated hyperfine interactions and more than one magnetic phase in the samples. Moessbauer results are corroborated by ac susceptibility, resistivity and positron annihilation Doppler broadening measurements. (author)

  7. Role of disorder in the multi-critical region of d-wave superconductivity and antiferromagnetism

    International Nuclear Information System (INIS)

    Yanase, Youichi; Ogata, Masao

    2007-01-01

    We investigate the disorder-induced microscopic inhomogeneity in the multi-critical region of d-wave superconductivity and antiferromagnetism on the basis of the microscopic t-t ' -U-V model. We find that a small amount of point disorder induces the nano-scale inhomogeneity of spin and superconducting fluctuations when the coherence length of superconductivity is remarkably short as in the under-doped cuprates. Then, the two fluctuations spatially segregate to avoid their competition. We show the remarkable electron-hole asymmetry in high-T c cuprates where the quite different spatial structure is expected in the electron-doped materials

  8. Critical issues in implementing low vision care in the Asia-Pacific region

    Directory of Open Access Journals (Sweden)

    Peggy Pei-Chia Chiang

    2012-01-01

    Full Text Available Two-thirds of the world′s population with low vision resides in the Asia-Pacific region. Provision of comprehensive low vision services is important to improve vision-related quality of life (QoL for people with this condition. This review outlines the critical issues and challenges facing the provision of low vision services in the Asia-Pacific region. The review offers possible strategies to tackle these issues and challenges facing service providers and policy makers in lieu of Vision 2020 strategies in this area. Pertinent findings from the global survey of low vision services and extensive ground work conducted in the region are used; in addition, a discussion on the availability of services, human resources and training, and funding and the future sustainability of low vision care will be covered. In summary, current issues and challenges facing the region are the lack of specific evidence-based data, access, appropriate equipment and facilities, human resources, funding, and sustainability. These issues are inextricably interlinked and thus cannot be addressed in isolation. The solutions proposed cover all areas of the VISION 2020 strategy that include service delivery, human resources, infrastructure and equipment, advocacy and partnership; and include provision of comprehensive care via vertical and horizontal integration; strengthening primary level care in the community; providing formal and informal training to enable task shifting and capacity building; and promoting strong government and private sector partnership to achieve long-term service financial sustainability.

  9. Critical anatomic region of nasopalatine canal based on tridimensional analysis: cone beam computed tomography.

    Science.gov (United States)

    Fernández-Alonso, Ana; Suárez-Quintanilla, Juan Antonio; Muinelo-Lorenzo, Juan; Varela-Mallou, Jesús; Smyth Chamosa, Ernesto; Suárez-Cunqueiro, María Mercedes

    2015-08-06

    The study aim of this was to define the critical anatomic region of the premaxilla by evaluating dimensions of nasopalatine canal, buccal bone plate (BBP) and palatal bone plate (PBP). 230 CBCTs were selected with both, one or no upper central incisors present (+/+, -/+, -/-) and periodontal condition was evaluated. T-student test, ANOVA, Pearson's correlation and a multivariant-linear regression model (MLRM) were used. Regarding gender, significant differences at level 1 (lower NC) were found for: buccal-palatal, transversal and sagittal NC diameters, and NC length (NCL). Regarding dental status, significant differences were found for: total BBP length (tBL) and PBP width (PW2) at level 2 (NCL midpoint). NCL was correlated with PW2, tBL, and PBP length at level 3 (foramina of Stenson level). An MLRM had a high prediction value for NCL (69.3%). Gender is related to NC dimensions. Dental status has an influence on BBP dimensions, but does not influence on NC and PBP. Periodontal condition should be evaluated for precise premaxillae analysis NC diameters at the three anatomical planes are related to each other, while NCL is related to BBP and PBP lengths. A third of premaxilla is taken up by NC, thus, establishing the critical anatomic region.

  10. Metabolic syndrome in sub-Saharan Africa: "smaller twin" of a region's prostatic diseases?

    Science.gov (United States)

    Ejike, Chukwunonso E C C; Ezeanyika, Lawrence U S

    2008-01-01

    Prostate cancer (PC) and benign prostate hyperplasia (BPH) constitute many of the health concerns of males around the world. Prostate cancer is the major cause of death after lung cancer in men. Benign prostate hyperplasia affects most males above 40 years of age. A variety of factors, chiefly age, genetics and lifestyle, have been linked to the development of PC and BPH. The metabolic syndrome describes a chain of chronic disorders that are inter-related in aetiology, and result from unhealthy lifestyles, often due to an affluent economy. The eating of processed foods and a sedentary lifestyle apparently are status symbols among the middle and upper classes in sub-Saharan Africa. These have resulted in a surge in the disease burden of sub-Saharan Africa. This paper looks at the aetiology and prevalence of the metabolic syndrome and prostatic diseases, especially in sub-Saharan Africa. Evidence from the available literature shows that prostate disorders may be related to the metabolic syndrome. There is a likelihood that if sub-Saharan Africans keep copying the lifestyles of the developed world, especially in the direction of the nature of food items consumed, then the rising prevalence of diseases of the metabolic syndrome and the attendant prostate disorders may become very formidable healthcare "twin" problems for the region.

  11. Are you better? A multi-centre study of patient-defined recovery from Complex Regional Pain Syndrome

    DEFF Research Database (Denmark)

    Llewellyn, A; McCabe, CS; Hibberd, Y

    2018-01-01

    Background: Complex Regional Pain Syndrome (CRPS) symptoms can significantly differ between patients, fluctuate over time, disappear or persist. This leads to problems in defining recovery and in evaluating the efficacy of therapeutic interventions. Objectives: To define recovery from the patient...

  12. [Neopterin levels and systemic inflammatory response syndrome in pediatric critically ill patients].

    Science.gov (United States)

    Gil-Gómez, Raquel; Blasco-Alonso, Javier; Sánchez-Yáñez, Pilar; Rosa-Camacho, Vanessa; Milano Manso, Guillermo

    2017-12-01

    Neopterin and biopterin are sub-products of redox reactions, which act as cofactors of enzymes responsible for nitric oxide production. The hypothesis is presented that plasma neopterin and biopterin evolve differently during the first days in a critically ill child. A single-centre prospective observational study was conducted on patients 7 days to 14 years admitted to our Paediatric Intensive Care Unit (PICU) and that met Systemic inflammatory response syndrome (SIRS) criteria. Neopterin and biopterin levels, as well as other acute phase reactants, were collected at admission and at 24 h. A total of 28 patients were included, of which 78.9% were male, The median age was 5.04 years (interquartile range [IQR] 1.47-10.26), and PRISM II 2.0% (IQR 1.1-5.0). Mechanical ventilation (MV) was used in 90% of patients, with a median duration of 6.0 hrs (IQR 3.7-102.0). The median length of stay in PICU was 5.0 days (IQR 2.7-18.7), maximum VIS mean of 0 (IQR 0-14). Baseline neopterin level was 2.3±1.2 nmol/l and at 24 h it was 2.3±1.4 nmol/l. Baseline biopterin was 1.3±0.5 nmol/l and 1.4±0.4 nmol/l at 24 h. Neopterin levels were significantly higher in patients with PICU length of stay > 6 days (P=.02), patients who needed MV >24 h (P=.023), and those who developed complications (P=.05). Neopterin correlates directly and is statistically significant with the duration of MV (rho=.6, P=.011), PICU length of stay (rho=.75, P<.0001), and VIS (rho=.73, P=.001). Additionally, biopterin directly correlates with the PRISM (rho=.61, P=.008). There is a higher neopterin level when there is a longer PICU stay, higher VIS score, longer time on MV, and occurrence of complications, indicating the involvement of an activation of the cellular immune system. Copyright © 2016 Asociación Española de Pediatría. Publicado por Elsevier España, S.L.U. All rights reserved.

  13. Regional Ulnar Nerve Strain Following Decompression and Anterior Subcutaneous Transposition in Patients With Cubital Tunnel Syndrome.

    Science.gov (United States)

    Foran, Ian; Vaz, Kenneth; Sikora-Klak, Jakub; Ward, Samuel R; Hentzen, Eric R; Shah, Sameer B

    2016-10-01

    Simple decompression and anterior subcutaneous transposition are effective surgical interventions for cubital tunnel syndrome and yield similarly favorable outcomes. However, a substantial proportion of patients demonstrate unsatisfactory outcomes for reasons that remain unclear. We compared effects of decompression and transposition on regional ulnar nerve strain to better understand the biomechanical impacts of each strategy. Patients diagnosed with cubital tunnel syndrome and scheduled for anterior subcutaneous transposition surgery were enrolled. Simple decompression, circumferential decompression, and anterior transposition of the ulnar nerve were performed during the course of the transposition procedure. Regional ulnar nerve strain around the elbow was measured for each surgical intervention based on 4 wrist and elbow joint configurations. With elbow extension at 180°, both circumferential decompression and anterior transposition resulted in approximately 68% higher nerve strains than simple decompression. Conversely, with elbow flexion, simple decompression resulted in higher average strains than anterior transposition. Limited regional differences in strain were observed for any surgical intervention with elbow extension. However, with elbow flexion, strains were higher in distal and central regions compared with the proximal region within all surgical groups, and proximal region strain was higher after simple decompression compared with anterior transposition. As predicted by the altered anatomic course, anterior transposition results in lower ulnar nerve strains than simple decompression during elbow flexion and higher nerve strains during elbow extension. Irrespective of anatomic course, circumferential release of paraneurial tissues may also influence nerve strain. Nerve strain varies regionally and is influenced by surgery and joint configuration. Our data provide insight into how surgery resolves and redistributes traction on the ulnar nerve. These

  14. The compensatory anti-inflammatory response syndrome (CARS) in critically ill patients.

    Science.gov (United States)

    Ward, Nicholas S; Casserly, Brian; Ayala, Alfred

    2008-12-01

    Like the systemic inflammatory response syndrome (SIRS), the compensatory anti-inflammatory response syndrome (CARS) is a complex pattern of immunologic responses to severe infection or injury. The difference is that while SIRS is a proinflammatory response tasked with killing infectious organisms through activation of the immune system, CARS is a global deactivation of the immune system tasked with restoring homeostasis. Much research now suggests that the timing and relative magnitude of this response have a profound impact on patient outcomes.

  15. A regional approach for mineral soil weathering estimation and critical load assessment in boreal Saskatchewan, Canada.

    Science.gov (United States)

    Whitfield, Colin J; Watmough, Shaun A

    2012-10-15

    In boreal regions of the province of Saskatchewan, Canada, there is concern over emerging acid precursor emission sources associated with the oil sands industry. Base cation weathering rates (BC(w)) and steady-state critical loads of sulfur (CL(S)) were identified for upland forest soil plots (n=107) in 45 ecodistricts according to a new method for approximation of BC(w) in the region. This method was developed by regression of simple soil and site properties with BC(w) calculated through application of a soil chemical model (PROFILE). PROFILE was parameterized using detailed physicochemical data for a subset (n=35) of the sites. Sand content, soil moisture and latitude emerged as important predictive variables in this empirical regression approximation. Base cation weathering varied widely (0.1-8000 mmol(c) m(-3) yr(-1)) across the study sites, consistent with their contrasting soil properties. Several sites had lower rates than observed in other acid-sensitive regions of Canada owing to quartz dominated mineralogy and coarse-textured soils with very low surface area. Weathering was variable within ecodistricts, although rates were consistently low among ecodistricts located in the northwest of the province. Overall, half of the forest plots demonstrated CL(S) less than 45 mmol(c) m(-2) yr(-1). Historically, the acidification risk in this region has been considered low and monitoring has been limited. Given the very low CL(S) in many northern ecodistricts and the potential for increased acid deposition as oil sands activities expand, soil acidification in these regions warrants further study. Copyright © 2012 Elsevier B.V. All rights reserved.

  16. Down's syndrome in the Lothian region of Scotland - 1978 to 1989

    International Nuclear Information System (INIS)

    Ramsay, C.N.; Ellis, P.M.; Zealley, H.

    1991-01-01

    A study of Down's syndrome in Lothian for the years 1978-1989 revealed a significantly higher than expected incidence of cases in 1987. The increased incidence was particularly significant among women aged 35 years or more. The increase could not be attributed to demographic changes on birth rates or to the age distribution of the women concerned. A temporal association between the cluster of cases and the events at Chernobyl in April 1986 was demonstrated. However, according to current understanding, there is no biologically plausible explanation to link the 2 events, given the reported levels of radioactive fallout in the Lothian region, resulting from the Chernobyl disaster. An explanation for the increased incidence of Down's syndrome in 1987 remains outstanding

  17. A critical analysis of the higher Pennsylvanian megafloras of the Appalachian region

    Energy Technology Data Exchange (ETDEWEB)

    Wagner, R.H.; Lyons, P.C. [Jardin Botanico de Cordoba, Cordoba (Spain)

    1997-01-01

    Published records of Stephanian megafloras in eastern North America are critically reviewed and the results of personal investigations in the Appalachian region are reported. The analysis despite incomplete megafloral records, allows the conclusion that the succession in the Appalachian area hides a large stratigraphic gap, at the base of the Upper Pennsylvanian Series. This gap is in the same position and of similar magnitude to that below the Rotliegend of northwestern Europe. Analysis of the floral records in the Southern Anthracite field shows evidence of a similar gap. Megafloral data from the Narragansett basin are analysed, but are found insufficient for determining if there is a stratigraphic gap. Published data from the Maritime Provinces of Canada are used to suggest that the same pre-Rotliegend gap exists in this area. Recognition of this important regional unconformity in eastern North America, which is similar to that in the British Isles and throughout northwestern Europe, strengthens the view that the Appalachian region and the paralic coal belt of northwestern Europe constitute a single, major palaeogeographic area.

  18. Enhanced Stability and Controllability of an Ionic Diode Based on Funnel-Shaped Nanochannels with an Extended Critical Region.

    Science.gov (United States)

    Xiao, Kai; Xie, Ganhua; Zhang, Zhen; Kong, Xiang-Yu; Liu, Qian; Li, Pei; Wen, Liping; Jiang, Lei

    2016-05-01

    The enhanced stability and controllability of an ionic diode system based on funnel-shaped nanochannels with a much longer critical region is reported. The polarity of ion transport switching from anion/cation-selective to ambipolar can be controlled by tuning the length and charge of the critical region. This nanofluidic structure anticipates potential applications in single-molecule biosensing, water resource monitoring, and healthcare. © 2016 WILEY-VCH Verlag GmbH & Co. KGaA, Weinheim.

  19. Phenoxybenzamine in Complex Regional Pain Syndrome: Potential Role and Novel Mechanisms

    Science.gov (United States)

    Inchiosa, Mario A.

    2013-01-01

    There is a relatively long history of the use of the α-adrenergic antagonist, phenoxybenzamine, for the treatment of complex regional pain syndrome (CRPS). One form of this syndrome, CRPS I, was originally termed reflex sympathetic dystrophy (RSD) because of an apparent dysregulation of the sympathetic nervous system in the region of an extremity that had been subjected to an injury or surgical procedure. The syndrome develops in the absence of any apparent continuation of the inciting trauma. Hallmarks of the condition are allodynia (pain perceived from a nonpainful stimulus) and hyperalgesia (exaggerated pain response to a painful stimulus). In addition to severe, unremitting burning pain, the affected limb is typically warm and edematous in the early weeks after trauma but then progresses to a primarily cold, dry limb in later weeks and months. The later stages are frequently characterized by changes to skin texture and nail deformities, hypertrichosis, muscle atrophy, and bone demineralization. Earlier treatments of CRPS syndromes were primarily focused on blocking sympathetic outflow to an affected extremity. The use of an α-adrenergic antagonist such as phenoxybenzamine followed from this perspective. However, the current consensus on the etiology of CRPS favors an interpretation of the symptomatology as an evidence of decreased sympathetic activity to the injured limb and a resulting upregulation of adrenergic sensitivity. The clinical use of phenoxybenzamine for the treatment of CRPS is reviewed, and mechanisms of action that include potential immunomodulatory/anti-inflammatory effects are presented. Also, a recent study identified phenoxybenzamine as a potential intervention for pain mediation from its effects on gene expression in human cell lines; on this basis, it was tested and found to be capable of reducing pain behavior in a classical animal model of chronic pain. PMID:24454356

  20. Phenoxybenzamine in Complex Regional Pain Syndrome: Potential Role and Novel Mechanisms

    Directory of Open Access Journals (Sweden)

    Mario A. Inchiosa

    2013-01-01

    Full Text Available There is a relatively long history of the use of the α-adrenergic antagonist, phenoxybenzamine, for the treatment of complex regional pain syndrome (CRPS. One form of this syndrome, CRPS I, was originally termed reflex sympathetic dystrophy (RSD because of an apparent dysregulation of the sympathetic nervous system in the region of an extremity that had been subjected to an injury or surgical procedure. The syndrome develops in the absence of any apparent continuation of the inciting trauma. Hallmarks of the condition are allodynia (pain perceived from a nonpainful stimulus and hyperalgesia (exaggerated pain response to a painful stimulus. In addition to severe, unremitting burning pain, the affected limb is typically warm and edematous in the early weeks after trauma but then progresses to a primarily cold, dry limb in later weeks and months. The later stages are frequently characterized by changes to skin texture and nail deformities, hypertrichosis, muscle atrophy, and bone demineralization. Earlier treatments of CRPS syndromes were primarily focused on blocking sympathetic outflow to an affected extremity. The use of an α-adrenergic antagonist such as phenoxybenzamine followed from this perspective. However, the current consensus on the etiology of CRPS favors an interpretation of the symptomatology as an evidence of decreased sympathetic activity to the injured limb and a resulting upregulation of adrenergic sensitivity. The clinical use of phenoxybenzamine for the treatment of CRPS is reviewed, and mechanisms of action that include potential immunomodulatory/anti-inflammatory effects are presented. Also, a recent study identified phenoxybenzamine as a potential intervention for pain mediation from its effects on gene expression in human cell lines; on this basis, it was tested and found to be capable of reducing pain behavior in a classical animal model of chronic pain.

  1. Emotional intelligence moderates the relationship between regional gray matter volume in the bilateral temporal pole and critical thinking disposition.

    Science.gov (United States)

    Yao, Xiaonan; Yuan, Shuge; Yang, Wenjing; Chen, Qunlin; Wei, Dongtao; Hou, Yuling; Zhang, Lijie; Qiu, Jiang; Yang, Dong

    2018-04-01

    Critical thinking enables people to form sound beliefs and provides a basis for emotional life. Research has indicated that individuals with better critical thinking disposition can better recognize and regulate their emotions, though the neuroanatomical mechanisms involved in this process remain to be elucidated. Further, the influence of emotional intelligence on the relationship between brain structure and critical thinking disposition has not been examined. The present study utilized voxel-based morphometry (VBM) to investigate the neural structures underlying critical thinking disposition in a large sample of college students (N = 296). Regional gray matter volume (rGMV) in the bilateral temporal pole, which reflects an individual's ability to process social and emotional information, was negatively correlated with critical thinking disposition. In addition, rGMV in bilateral para hippocampal regions -regions involved in contextual association/emotional regulation-exhibited negative correlation with critical thinking disposition. Further analysis revealed that emotional intelligence moderated the relationship between rGMV of the temporal pole and critical thinking disposition. Specifically, critical thinking disposition was associated with decreased GMV of the temporal pole for individuals who have relatively higher emotional intelligence rather than lower emotional intelligence. The results of the present study indicate that people who have higher emotional intelligence exhibit more effective and automatic processing of emotional information and tend to be strong critical thinkers.

  2. Gas Bearing Control for Safe Operation in Critical Speed Regions - Experimental Verification

    DEFF Research Database (Denmark)

    Theisen, Lukas R. S.; Niemann, Hans H.; Galeazzi, Roberto

    2015-01-01

    Gas bearings are popular for their high speed capabilities, low friction and clean operation, but require low clearances and suffer from poor damping properties. The poor damping properties cause high disturbance amplification near the natural frequencies. These become critical when the rotation...... speed coincides with a natural frequency. In these regions, even low mass unbalances can cause rub and damage the machine. To prevent rubbing, the variation of the rotation speed of machines supported by gas bearings has to be carefully conducted during run-ups and run-downs, by acceleration...... supported by gas bearings to extend their operating range. Using H∞-design methods, active lubrication techniques are proposed to enhance the damping, which in turn reduces the vibrations to a desired safe level. The control design is validated experimentally on a laboratory test rig, and shown to allow...

  3. Hydrogeochemistry of prairie pothole region wetlands: Role of long-term critical zone processes

    Science.gov (United States)

    Goldhaber, Martin B.; Mills, Christopher T.; Morrison, Jean M.; Stricker, Craig A.; Mushet, David M.; LaBaugh, James W.

    2014-01-01

    This study addresses the geologic and hydrogeochemical processes operating at a range of scales within the prairie pothole region (PPR). The PPR is a 750,000 km2portion of north central North America that hosts millions of small wetlands known to be critical habitat for waterfowl and other wildlife. At a local scale, we characterized the geochemical evolution of the 92-ha Cottonwood Lake study area (CWLSA), located in North Dakota, USA. Critical zone processes are the long-term determinant of wetland water and groundwater geochemistry via the interaction of oxygenated groundwater with pyrite in the underlying glacial till. Pyrite oxidation produced a brown, iron oxide-bearing surface layer locally over 13 m thick and an estimated minimum of 1.3 × 1010 g sulfate (SO42 −) at CWLSA. We show that the majority of this SO42− now resides in solid-phase gypsum (CaSO4•2H2O) and gypsum-saturated groundwater.

  4. A regional cohort study of the treatment of critically ill children with bronchiolitis.

    Science.gov (United States)

    Carroll, Christopher L; Faustino, Edward Vincent S; Pinto, Matthew G; Sala, Kathleen A; Canarie, Michael F; Li, Simon; Giuliano, John S; The Northeast Pediatric Critical Care Research Consortium

    2016-12-01

    To describe the treatment practices in critically ill children with RSV bronchiolitis across four regional PICUs in the northeastern United States, and to determine the factors associated with increased ICU length of stay in this population. We conducted a retrospective cohort study of children who were admitted with RSV bronchiolitis between July 2009 and July 2011 to the PICUs of Connecticut Children's Medical Center, Yale-New Haven Children's Hospital, Maria Fareri Children's Hospital, and Baystate Children's Hospital. Data were collected regarding clinical characteristics and intensive care course among these hospitals. During the study period, 323 children were admitted to one of the four ICUs with RSV bronchiolitis. Despite similar mortality risk scores among ICUs, there was considerable variation in the use of therapies, particularly intubation and mechanical ventilation, in which there was greater than a 3.5-fold increased risk of intubation between sites with the highest and lowest frequency of intubation (odds ratio: 3.8; 95% confidence interval: 2.2-6.4). Albuterol was the most commonly used respiratory treatment, followed by chest physiotherapy, high-flow nasal cannula, and hypertonic saline. Longer stays in the ICU were associated with more frequent use of therapies, specifically invasive mechanical ventilation, inhaled corticosteroids, intrapulmonary percussive ventilation, and chest physiotherapy. Even within a close geographic region, there is significant variation in the treatment provided to critically ill children with RSV bronchiolitis. None of these treatments were associated with shorter durations of hospitalization in this population and some, such as mechanical ventilation, were associated with longer ICU lengths of stay.

  5. [Mitochondrial and microcirculatory distress syndrome in the critical patient. Therapeutic implications].

    Science.gov (United States)

    Navarrete, M L; Cerdeño, M C; Serra, M C; Conejero, R

    2013-10-01

    Mitochondrial and microcirculatory distress syndrome (MMDS) can occur during systemic inflammatory response syndrome (SIRS), and is characterized by cytopathic tissue hypoxia uncorrected by oxygen transport optimization, and associated with an acquired defect in the use of oxygen and energy production in mitochondria, leading to multiple organ dysfunction (MOD). We examine the pathogenesis of MMDS, new diagnostic methods, and recent therapeutic approaches adapted to each of the three phases in the evolution of the syndrome. In the initial phase, the aim is prevention and early reversal of mitochondrial dysfunction. Once the latter is established, the aim is to restore flow of the electron chain, mitochondrial respiration, and to avoid cellular energy collapse. Finally, in the third (resolution) stage, treatment should focus on stimulating mitochondrial biogenesis and the repair or replacement of damaged mitochondria. Copyright © 2012 Elsevier España, S.L. and SEMICYUC. All rights reserved.

  6. Regional cerebral blood flow characteristics of the Sturge-Weber syndrome

    International Nuclear Information System (INIS)

    Riela, A.R.; Stump, D.A.; Roach, E.S.; McLean, W.T. Jr.; Garcia, J.C.

    1985-01-01

    Four patients with the Sturge-Weber syndrome were studied using the non-invasive Xenon-133 inhalation technique. All four patients had decreased regional cerebral blood flow in the area of their lesion, and in two patients who were subsequently tested with 5% carbon dioxide inhalation, impaired vasomotor reactivity was documented. Diminished regional cerebral blood flow is consistent with previously described nuclide flow studies which demonstrated a delay in the initial perfusion blush in the region of the abnormal vasculature. The focal decrease in blood flow was greatest in the most severely affected patient, but was also prominent in the two younger patients, both of whom have excellent neurologic function. These studies suggest that localized decrease in blood flow and vasomotor dysfunction in Sturge-Weber syndrome can precede the occurrence of severe neurologic impairment and extensive cerebral atrophy and possibly be a major contributing factor in progressive dysfunction. A secondary observation was that the blood flow in the unaffected hemisphere was significantly greater in two children compared to the two adults and was similar to the age-related differences reported for normal children and adults

  7. Complex Regional Pain Syndrom Due to Cat Bite: A Case Report

    Directory of Open Access Journals (Sweden)

    Tuncay Cakir

    2014-04-01

    Full Text Available Complex regional pain syndrome (CPRS, is a painful and disabling disorder that can effect one or more extremities, characterized by a combination of vasomotor, sudomoto rand dystrophic alterations and may cause restriction in movements. The pain of this condition out of proportion to the severity of the initial injury. There are many aetiologic factors such as soft tissue injury, surgery, immobilization or myocardial ischemia. The pathophysiology of CPRS is not clear but peripheral and central sensitization resulting in neurogenic inflammation has been held responsible. This case report discribes the clinical condition of CPRS due to cat bite, and is presented to emphasize rare etiologic factors that may cause CPRS.

  8. Complex Regional Pain Syndrome (CRPS/RSD and Neuropathic Pain: Role of Intravenous Bisphosphonates as Analgesics

    Directory of Open Access Journals (Sweden)

    Jennifer Yanow

    2008-01-01

    Full Text Available Neuropathic pain is a sequela of dysfunction, injuries, or diseases of the peripheral and/or central nervous system pain pathways, which has historically been extremely difficult to treat. Complex regional pain syndrome (CRPS types 1 and 2 are neuropathic pain conditions that have a long history in the medical literature but whose pathophysiology remains elusive and whose available treatment options remain few. While an exact animal model for CRPS doesn't yet exist, there are several animal models of neuropathic pain that develop behaviors of hypersensitivity, one of the hallmark signs of neuropathic pain in humans.

  9. Therapy-Resistant Complex Regional Pain Syndrome Type I: To Amputate or Not?

    OpenAIRE

    Bodde, M.I.; Dijkstra, P.U.; den Dunnen, W.F.A.; Geertzen, J.H.B.

    2011-01-01

    Background: Amputation for the treatment of long-standing, therapy-resistant complex regional pain syndrome type I (CRPS-I) is controversial. An evidence-based decision regarding whether or not to amputate is not possible on the basis of current guidelines. The aim of the current study was to systematically review the literature and summarize the beneficial and adverse effects of an amputation for the treatment of long-standing, therapy-resistant CRPS-I. Methods: A literature search, using Me...

  10. Imaging of Posttraumatic Arthritis, Avascular Necrosis, Septic Arthritis, Complex Regional Pain Syndrome, and Cancer Mimicking Arthritis.

    Science.gov (United States)

    Rupasov, Andrey; Cain, Usa; Montoya, Simone; Blickman, Johan G

    2017-09-01

    This article focuses on the imaging of 5 discrete entities with a common end result of disability: posttraumatic arthritis, a common form of secondary osteoarthritis that results from a prior insult to the joint; avascular necrosis, a disease of impaired osseous blood flow, leading to cellular death and subsequent osseous collapse; septic arthritis, an infectious process leading to destructive changes within the joint; complex regional pain syndrome, a chronic limb-confined painful condition arising after injury; and cases of cancer mimicking arthritis, in which the initial findings seem to represent arthritis, despite a more insidious cause. Copyright © 2017 Elsevier Inc. All rights reserved.

  11. Bilateral Complex Regional Pain Syndrome after Fracture of Bilateral Tibia and Fibula

    Directory of Open Access Journals (Sweden)

    Senem Şaş

    2017-04-01

    Full Text Available Complex regional syndrome type 1 (CRPS-1 is a painful clinical condition. It occurs after a painful event and characterized by allodynia, hyperalgesia, edema, abnormalities in skin blood flow and abnormal sudomotor activity. When CRPS-1 is associated with nerve injury, it is defined as CRPS-2. Central and peripheral theory are responsible in etiopathogenesis of CRPS-1. Generally it occurs in the injured limb. But, it may ocur in the opposite extremities. In this article, we present a case developing bilateral CRPS-1 after bilateral tibia and fibula fracture by reviewing current literatüre.

  12. Randomised controlled trial of gabapentin in Complex Regional Pain Syndrome type 1 [ISRCTN84121379

    Directory of Open Access Journals (Sweden)

    Weber Wim EJ

    2004-09-01

    Full Text Available Abstract Background Complex Regional Pain Syndrome type one (CRPS I or formerly Reflex Sympathetic Dystrophy (RSD is a disabling syndrome, in which a painful limb is accompanied by varying symptoms. Neuropathic pain is a prominent feature of CRPS I, and is often refractory to treatment. Since gabapentin is an anticonvulsant with a proven analgesic effect in various neuropathic pain syndromes, we sought to study the efficacy of the anticonvulsant gabapentin as treatment for pain in patients with CRPS I. Methods We did a randomized double blind placebo controlled crossover study with two three-weeks treatment periods with gabapentin and placebo separated by a two-weeks washout period. Patients started at random with gabapentin or placebo, which was administered in identical capsules three times daily. We included 58 patients with CRPS type 1. Results Patients reported significant pain relief in favor of gabapentin in the first period. Therapy effect in the second period was less; finally resulting in no significant effect combining results of both periods. The CRPS patients had sensory deficits at baseline. We found that this sensory deficit was significantly reversed in gabapentin users in comparison to placebo users. Conclusions Gabapentin had a mild effect on pain in CRPS I. It significantly reduced the sensory deficit in the affected limb. A subpopulation of CRPS patients may benefit from gabapentin.

  13. Differences in economic development in rural regions of advanced countries: an overview and critical analysis of theories

    NARCIS (Netherlands)

    Terluin, I.J.

    2003-01-01

    This article provides an overview and critical analysis of theories on economic development in rural regions in advanced countries. For this purpose, we have consulted literature in regional economics and the multidisciplinary field of rural studies. In order to analyse to which extent these

  14. Risk prediction of Critical Infrastructures against extreme natural hazards: local and regional scale analysis

    Science.gov (United States)

    Rosato, Vittorio; Hounjet, Micheline; Burzel, Andreas; Di Pietro, Antonio; Tofani, Alberto; Pollino, Maurizio; Giovinazzi, Sonia

    2016-04-01

    Natural hazard events can induce severe impacts on the built environment; they can hit wide and densely populated areas, where there is a large number of (inter)dependent technological systems whose damages could cause the failure or malfunctioning of further different services, spreading the impacts on wider geographical areas. The EU project CIPRNet (Critical Infrastructures Preparedness and Resilience Research Network) is realizing an unprecedented Decision Support System (DSS) which enables to operationally perform risk prediction on Critical Infrastructures (CI) by predicting the occurrence of natural events (from long term weather to short nowcast predictions, correlating intrinsic vulnerabilities of CI elements with the different events' manifestation strengths, and analysing the resulting Damage Scenario. The Damage Scenario is then transformed into an Impact Scenario, where punctual CI element damages are transformed into micro (local area) or meso (regional) scale Services Outages. At the smaller scale, the DSS simulates detailed city models (where CI dependencies are explicitly accounted for) that are of important input for crisis management organizations whereas, at the regional scale by using approximate System-of-Systems model describing systemic interactions, the focus is on raising awareness. The DSS has allowed to develop a novel simulation framework for predicting earthquakes shake maps originating from a given seismic event, considering the shock wave propagation in inhomogeneous media and the subsequent produced damages by estimating building vulnerabilities on the basis of a phenomenological model [1, 2]. Moreover, in presence of areas containing river basins, when abundant precipitations are expected, the DSS solves the hydrodynamic 1D/2D models of the river basins for predicting the flux runoff and the corresponding flood dynamics. This calculation allows the estimation of the Damage Scenario and triggers the evaluation of the Impact Scenario

  15. Speech and Language Development in Cri Du Chat Syndrome: A Critical Review

    Science.gov (United States)

    Kristoffersen, Kristian Emil

    2008-01-01

    This article reviews research on speech and language abilities in people with cri du chat syndrome (CCS). CCS is a rare genetic disorder, with an estimated incidence between 1 in 15,000 and 1 in 50,000 births, resulting from a deletion on the short arm of chromosome 5. In general, individuals have delayed speech and language development, and some…

  16. [Withdrawal syndrome in a critically ill child after sedation with midazolam and fentanyl].

    Science.gov (United States)

    Takara, Itaru; Tomiyama, Hiroshi; Tokumine, Joho; Sugahara, Kazuhiro

    2004-07-01

    A 7-year-old girl suffered from withdrawal syndrome with systemic convulsion after sedation with midazolam and fentanyl. She had a history of severe accidental alkaline esophagitis, and under went polysurgeries. This time, she was scheduled to receive reconstruction of the esophagus with small intestine in order to resolve esophageal stenosis. Operation and anesthesia lasted for 14 hours, and 17 hours, respectively. In the postoperative period, she was under heavy sedation with midazolam and fentanyl in order to keep neck position immobile. Her sedation persisted for 14 postoperative days, and the total doses of midazolam and fentanyl were more than 100 mg x kg(-1), and 6.4 mg x kg(-1), respectively. Thereafter, her sedation was tapered and discontinued within about 24 hours. After 12 hours, she suddenly developed systemic convulsion with loss of consciousness. There was no evidence of obvious organic central nervous system abnormality. We suspected withdrawal syndrome, and gradual decrease of midazolam and fentanyl prevented her from going into withdrawal syndrome. We have to pay attention to withdrawal syndrome when heavy and long sedation with midazolam and fentanyl was employed and the drugs were then tapered and discontinued.

  17. Critical region within 22q11.2 linked to higher rate of autism spectrum disorder.

    Science.gov (United States)

    Clements, Caitlin C; Wenger, Tara L; Zoltowski, Alisa R; Bertollo, Jennifer R; Miller, Judith S; de Marchena, Ashley B; Mitteer, Lauren M; Carey, John C; Yerys, Benjamin E; Zackai, Elaine H; Emanuel, Beverly S; McDonald-McGinn, Donna M; Schultz, Robert T

    2017-01-01

    Previous studies have reported no clear critical region for medical comorbidities in children with deletions or duplications of 22q11.2. The purpose of this study was to evaluate whether individuals with small nested deletions or duplications of the LCR-A to B region of 22q11.2 show an elevated rate of autism spectrum disorder (ASD) compared to individuals with deletions or duplications that do not include this region. We recruited 46 patients with nested deletions ( n  = 33) or duplications ( n  = 13) of 22q11.2, including LCR-A to B ( n del  = 11), LCR-A to C ( n del  = 4), LCR-B to D ( n del  = 14; n dup  = 8), LCR-C to D ( n del  = 4; n dup  = 2), and smaller nested regions ( n  = 3). Parent questionnaire, record review, and, for a subset, in-person evaluation were used for ASD diagnostic classification. Rates of ASD in individuals with involvement of LCR-B to LCR-D were compared with Fisher's exact test to LCR-A to LCR-B for deletions, and to a previously published sample of LCR-A to LCR-D for duplications. The rates of medical comorbidities and psychiatric diagnoses were determined from questionnaires and chart review. We also report group mean differences on psychiatric questionnaires. Individuals with deletions involving LCR-A to B showed a 39-44% rate of ASD compared to 0% in individuals whose deletions did not involve LCR-A to B. We observed similar rates of medical comorbidities in individuals with involvement of LCR-A to B and LCR-B to D for both duplications and deletions, consistent with prior studies. Children with nested deletions of 22q11.2 may be at greater risk for autism spectrum disorder if the region includes LCR-A to LCR-B. Replication is needed.

  18. The left fusiform gyrus is a critical region contributing to the core behavioral profile of semantic dementia

    Directory of Open Access Journals (Sweden)

    Junhua eDing

    2016-05-01

    Full Text Available Given that extensive cerebral regions are co-atrophic in semantic dementia (SD, it is not yet known which critical regions (SD-semantic-critical regions are really responsible for the semantic deficits of SD. To identify the SD-semantic-critical regions, we explored the relationship between the degree of cerebral atrophy in the whole brain and the severity of semantic deficits in 19 individuals with SD. We found that the gray matter volumes of two regions [left fusiform gyrus (lFFG and left parahippocampal gyrus (lPHG] significantly correlated with the semantic scores of patients with SD. Importantly, the effects of the lFFG remained significant after controlling for the gray matter volumes of the lPHG. Moreover, the effects of the region could not be accounted for by the total gray matter volume, general cognitive ability, laterality of brain atrophy, or control task performance. We further observed that each atrophic portion of the lFFG along the anterior-posterior axis might dedicate to the loss of semantic functions in SD. These results reveal that the lFFG could be a critical region contributing to the semantic deficits of SD.

  19. Diagnosis and fine localization of deletion region in Wolf-Hirschhorn syndrome patients.

    Science.gov (United States)

    Ji, Tao-Yun; Chia, David; Wang, Jing-Min; Wu, Ye; Li, Jie; Xiao, Jing; Jiang, Yu-Wu

    2010-07-01

    Wolf-Hirschhorn syndrome (WHS) results from the partial deletion of 4p. This study aimed to identify and fine map the chromosome deletion regions of Chinese children with Wolf-Hirschhorn syndrome among the developmental delay/mental retardation (DD/MR) patients. We analyzed the relationship of phenotype and genotype. Inclusion criteria were: moderate to severe DD/MR, no definite perinatal brain injury, and no trauma, toxication, hypoxia, infection of central nervous system; routine karyotyping was normal, no evidence of typical inherited metabolic disorder or specific neurodegenerative disorders from cranial neuro-imaging and blood/urinary metabolic diseases screening; no mutation of FMR1 in male patients, no typical clinical manifestation of Rett syndrome in female patients. Multiplex ligation-dependent probe amplification (MLPA) and Affymetrix genome-wide human SNP array 6.0 assays were applied to accurately define the exact size of subtelomeric aberration region of four WHS patients. All four WHS patients presented with severe DD, hypotonia and microcephaly, failure to thrive, 3/4 patients with typical facial features and seizures, 2/4 patients with congenital heart defects and cleft lip/palate, 1/4 patients with other malformations. The length of the deletions ranged from 3.3 Mb to 9.8 Mb. Two of four patients had "classic" WHS, 1/4 patients had "mild"-to-"classic" WHS, and 1/4 patients had "mild" WHS. WHS patients in China appear to be consistent with those previously reported. The prevalence of signs and symptoms, distribution of cases between "mild" and "classic" WHS, and the correlation between length of deletion and severity of disease of these patients were all similar to those of the patients from other populations.

  20. Regionalization of security and the reconstruction of a region : the Southern African Development Community's (SADC) critical and ironic security dynamics

    OpenAIRE

    Mokhawa, Gladys

    2011-01-01

    This thesis’ central aim is to rethink regional security cooperation in southern Africa by transcending the geopolitics that has been characteristic to the region. The constructivist inspired regional security complex theory is thus preferred as an analytic device through which a non-statist understanding of security within the region could be conceived. Furthermore to understand how the Southern African Development Community (SADC) is involved in the (re)construction of the re...

  1. Complex regional pain syndrome type i. An analysis of 7 cases in children.

    Science.gov (United States)

    Pedemonte Stalla, V; Medici Olaso, C; Kanopa Almada, V; Gonzalez Rabelino, G

    2015-01-01

    Complex regional pain syndrome (CRPS) is characterised by the presence of pain accompanied by sensory, autonomic and motor symptoms, usually preceded by a lesion or immobilisation. The clinical course is disproportionate to the initial injury in intensity and in duration. Its distribution is regional, predominantly in limbs. It is classified as type I and type II according to the absence or presence of nerve injury. We present the cases of seven children, 6 girls and 1 boy, aged 7 to 15 years. Three had a history of previous trauma. In 5 cases, the symptoms were located in the lower limbs. Time to diagnosis was between 4 and 90 days. Three patients had clinical features of anxiety and depression. Imaging and immunological studies were performed to rule out differential diagnoses in all the children. Interdisciplinary treatment was performed with physiotherapy, psychotherapy, and gabapentin or pregabalin. All patients had a good clinical outcome, with no relapses in the follow-up period (between 4 and 30 months). CRPS is frequently unrecognised in children, leading to family anxiety and unnecessary para-clinical costs. Paediatricians and paediatric neurologists should be aware of this syndrome in order to avoid delay in diagnosis, unnecessary studies, and multiple visits to specialists, with a view to providing effective treatment. Copyright © 2013 Sociedad Española de Neurología. Published by Elsevier España, S.L.U. All rights reserved.

  2. Candidate regions for Waardenburg syndrome type II: Search for a second WS locus

    Energy Technology Data Exchange (ETDEWEB)

    Nance, W.E.; Pandya, A.; Blanton, S.H. [VA Commonwealth Univ, Richmond, VA (United States)] [and others

    1994-09-01

    Waardenburg syndrome is an autosomal dominant disorder characterized by deafness and pigmentary abnormalities such as heterochromia of irides, hypopigmented skin patches, white forlock and premature graying. Clinically the syndrome has been classified into three types. Type II differs from type I in that dystopia canthorum is generally absent, and type III has associated limb anomalies. Recently linkage analysis localized the gene for WSI to chromosome 2q. PAX-3, which is a human analogue of the murine pax-3 locus, maps to this region and mutations in this gene have been found to segregate with WSI. However genetic heterogeneity clearly exists: most if not all WSII families are unlinked to PAX-3 while most if not all WSI cases are linked. We ascertained a four-year-old female child with an interstitial deletion of chromosome 13 who had features of WS including bilateral congenital sensorineural hearing loss, pale blue irides and pinched nostrils as well as hypertelorism microcephaly, bilateral eyelid ptosis, digitalization of thumbs and fifth finger clinodactyly. High resolution chromosomal analysis revealed a de novo interstitial deletion of 13q22-33.2. There was no family history of WS or retardation. A similar deletion in the region of 13q21-32 has been described in a 13-year-old boy with features of WSII. These two cases strongly suggested that this chromosomal region may include a second locus for WS. We have identified eight families with clinical features of WS type I which have been excluded from linkage to the PAX-3 locus. We have typed these families for microsatellite markers spanning chromosome 13. Linkage between WSII and the chromosome 13 markers was excluded in these families. Hirschsprung disease has been associated with WS and it has recently been mapped to chromosome 10q11.2-q21.1. We are currently typing the 8 families for microsatellites in this region.

  3. What Definition Is Used to Describe Second Impact Syndrome in Sports? A Systematic and Critical Review.

    Science.gov (United States)

    Stovitz, Steven D; Weseman, Jonathan D; Hooks, Matthew C; Schmidt, Robert J; Koffel, Jonathan B; Patricios, Jon S

    Concern about what has been termed, "second impact syndrome" (SIS) is a major factor determining return-to-play decisions after concussion. However, definitions of SIS vary. We used Scopus to conduct a systematic review and categorize the definitions used to describe SIS. Of the 91 sources identified, 79 (87%) clearly specified that SIS involved either cerebral edema or death after a concussion when a prior concussion had not resolved. Twelve articles (13%) could be interpreted as merely the events of two consecutive concussions. Among the articles that listed mortality rates, nearly all (33/35, 94%) said the rate of death was "high" (e.g., 50% to 100%). Our review found that most articles define SIS as a syndrome requiring catastrophic brain injury after consecutive concussive episodes. Given that it is unclear how common it is to have a second concussion while not fully recovered from a first concussion, the actual mortality rate of SIS is unknown.

  4. Dietary carbohydrate restriction in type 2 diabetes mellitus and metabolic syndrome: time for a critical appraisal

    Directory of Open Access Journals (Sweden)

    Roth Karl S

    2008-04-01

    Full Text Available Abstract Current nutritional approaches to metabolic syndrome and type 2 diabetes generally rely on reductions in dietary fat. The success of such approaches has been limited and therapy more generally relies on pharmacology. The argument is made that a re-evaluation of the role of carbohydrate restriction, the historical and intuitive approach to the problem, may provide an alternative and possibly superior dietary strategy. The rationale is that carbohydrate restriction improves glycemic control and reduces insulin fluctuations which are primary targets. Experiments are summarized showing that carbohydrate-restricted diets are at least as effective for weight loss as low-fat diets and that substitution of fat for carbohydrate is generally beneficial for risk of cardiovascular disease. These beneficial effects of carbohydrate restriction do not require weight loss. Finally, the point is reiterated that carbohydrate restriction improves all of the features of metabolic syndrome.

  5. The human homologue of the Drosophila melanogaster flightless-I gene (fliI) maps within the Smith-Magenis microdeletion critical region in 17p11.2

    Energy Technology Data Exchange (ETDEWEB)

    Chen, K.S.; Gunaratne, P.H.; Greenberg, F.; Shaffer, L.G.; Lupski, J.R. [Baylor College of Medicine, Houston, TX (United States); Hoheisel, J.D. [German Cancer Research Center, Heidelberg (Germany); Young, I.G.; Miklos, G.L.G.; Campbell, H.D. [Australian National Univ., Canberra (Australia)

    1995-01-01

    The Smith-Magenis syndrome (SMS) appears to be a contiguous-gene-deletion syndrome associated with a proximal deletion of the short arm of chromosome 17 in band p11.2. The spectrum of clinical findings includes short stature, brachydactyly, developmental delay, dysmorphic features, sleep disturbances, and behavioral problems. The complex phenotypic features suggest deletion of several contiguous genes. However, to date, no protein-encoding gene has been mapped to the SMS critical region. Recently, the Drosophila melanogaster flightless-I gene, fliI, and the homologous human cDNA have been isolated. Mutations in fliI result in loss of flight ability and, when severe, cause lethality due to incomplete cellularization with subsequent abnormal gastrulation. Here, we demonstrate that the human homologue (FLI) maps within the SMS critical region. Genomic cosmids were used as probes for FISH, which localized this gene to the 17p11.2 region. Somatic-cell hybrid-panel mapping further localized this gene to the SMS critical region. Southern blot analysis of somatic-cell hybrids and/or FISH analysis of lymphoblastoid cell lines from 12 SMS patients demonstrates the deletion of one copy of FLI in all SMS patients analyzed. 47 refs., 4 figs., 1 tab.

  6. Dietary carbohydrate restriction in type 2 diabetes mellitus and metabolic syndrome: time for a critical appraisal

    OpenAIRE

    Accurso, Anthony; Bernstein, Richard K; Dahlqvist, Annika; Draznin, Boris; Feinman, Richard D; Fine, Eugene J; Gleed, Amy; Jacobs, David B; Larson, Gabriel; Lustig, Robert H; Manninen, Anssi H; McFarlane, Samy I; Morrison, Katharine; Nielsen, Jørgen Vesti; Ravnskov, Uffe

    2008-01-01

    Abstract Current nutritional approaches to metabolic syndrome and type 2 diabetes generally rely on reductions in dietary fat. The success of such approaches has been limited and therapy more generally relies on pharmacology. The argument is made that a re-evaluation of the role of carbohydrate restriction, the historical and intuitive approach to the problem, may provide an alternative and possibly superior dietary strategy. The rationale is that carbohydrate restriction improves glycemic co...

  7. Complex regional pain syndrome (CRPS) type I: historical perspective and critical issues

    Science.gov (United States)

    Iolascon, Giovanni; de Sire, Alessandro; Moretti, Antimo; Gimigliano, Francesca

    2015-01-01

    Summary The history of algodystrophy is controversial and its denomination has changed significantly over time. Silas Weir Mitchell described several cases of causalgia due to gunshot wounds that occurred during the American Civil War, increasing knowledge about this clinical condition. A later key milestone in the history of CRPS is tied to the name of Paul Sudeck that, using X-ray examinations, described findings of bone atrophy following a traumatic event or infection of the upper limb. The most widely accepted pathogenic hypothesis, proposed by Rene Leriche, supported a key role of the sympathetic nervous system in the onset of the typical clinical picture of the disease, which was thus defined as “reflex sympathetic dystrophy”. In the 50s John J. Bonica proposed a staging of CRPS. In a consensus conference held in Budapest in 2003, it was proposed a new classification system that included the presence of at least two clinical signs included in the four categories and at least three symptoms in its four categories. There have been other classification systems proposed for the diagnosis of CRPS, such as Veldman diagnostic criteria based on the presence of at least 4 signs and symptoms of the disease associated with a worsening of the same following the use of the limb and their location in the same area distal to the one that suffered the injury. On the other hand, the Atkins diagnostic criteria are much more objective than those proposed by IASP and are specifically applicable to an orthopaedic context. However, current classification systems and related criteria proposed to make a diagnosis of CRPS, do not include instrumental evaluations and imaging, but rely solely on clinical findings. This approach does not allow an optimal disease staging especially in orthopaedics. PMID:27134625

  8. Perceived barriers to the regionalization of adult critical care in the United States: a qualitative preliminary study

    Directory of Open Access Journals (Sweden)

    Rubenfeld Gordon D

    2008-11-01

    Full Text Available Abstract Background Regionalization of adult critical care services may improve outcomes for critically ill patients. We sought to develop a framework for understanding clinician attitudes toward regionalization and potential barriers to developing a tiered, regionalized system of care in the United States. Methods We performed a qualitative study using semi-structured interviews of critical care stakeholders in the United States, including physicians, nurses and hospital administrators. Stakeholders were identified from a stratified-random sample of United States general medical and surgical hospitals. Key barriers and potential solutions were identified by performing content analysis of the interview transcriptions. Results We interviewed 30 stakeholders from 24 different hospitals, representing a broad range of hospital locations and sizes. Key barriers to regionalization included personal and economic strain on families, loss of autonomy on the part of referring physicians and hospitals, loss of revenue on the part of referring physicians and hospitals, the potential to worsen outcomes at small hospitals by limiting services, and the potential to overwhelm large hospitals. Improving communication between destination and source hospitals, provider education, instituting voluntary objective criteria to become a designated referral center, and mechanisms to feed back patients and revenue to source hospitals were identified as potential solutions to some of these barriers. Conclusion Regionalization efforts will be met with significant conceptual and structural barriers. These data provide a foundation for future research and can be used to inform policy decisions regarding the design and implementation of a regionalized system of critical care.

  9. [Prevalence of metabolic syndrome among forestry department agents in the Marche Region (italy)].

    Science.gov (United States)

    Copertaro, Alfredo

    2009-01-01

    to investigate the prevalence of metabolic syndrome and associations among cardiovascular risk factors in an Italian cohort of forestry agents, born and living in the Marche Region, everybody in good health. The results of this research can be used for subsequent comparison with other working population. the sample arises from a beginning selection of the participants to the public competition for forestry agents, in order to assess their qualifying attitudes to hold that position. Health examination was conducted during the annual health check-up of forestry agents evaluating the maintenance of the beginning psycho-physical attitudes. During periodic medical controls, the metabolic and physical parameters related to cardiovascular risk factors have been analyzed. a total of 207 forestry agents (87% males and 13% females) have been submitted to health examination, including anthropometric and arterial blood pressure measurements and biochemical determinations, in order to evaluate the parameters competing to formulate a diagnosis of metabolic syndrome, using the criteria proposed by the International Diabetes Federation (IDF). metabolic syndrome was defined by the clustering of three or more of the following abnormalities: waist circumference larger than 94 cm in men and 80 cm in women; serum triglycerides level of at least 150 mg/dL; highdensity lipoprotein cholesterol less than 40 mg/dL in men and 50 mg/dL in women; blood pressure higher than 130/85 mmHg; or fast plasma glucose higher than 100 mg/dL. Waist circumference has been measured following the indications of the European Health Risk Monitoring. compared to the general population of the Region, the agents of the CFS exhibit considerably lower values of cholesterol, triglycerides and fast plasma glucose. They show a lower presence in diseases such as diabetes and arterial hypertension. Cigarette smokers are very few. The prevalence of the metabolic syndrome is lower than general population: 6%, 11.5% and 22

  10. [Social skills in emergency and critical care professionals of a regional public hospital].

    Science.gov (United States)

    Leal Costa, C; Luján Cebrián, I; Gascón García, J; Ferrer Villalonga, L; Van-der Hofstadt Román, C J

    2010-01-01

    To assess the social skills of health care professionals in the emergency and critical care units of the regional hospital Vega Baja and analyze the association between a series of sociodemographic and professionals variables and social skills. A cross-sectional, descriptive study. Two evaluation tools were used. These included a sociodemographic and professional variables questionnaire, and the Elena Gismero's Social Skills Scale (SSS). A response rate of 82.6% was obtained. Considering the standards made by the author in SSS validation, it can be seen that the sample has obtained a medium-high score in each one of the aspects. Significant differences have been found when considering the sociodemographic variable gender as an independent variable with the complete score of SSS (F=6.555; p=0.013), and with the scale dimensions, self-expression in social situations (F=4.468; p=0.039) and making a demand (F=7.982; p=0.007). In each one of the SSS dimensions, the sample has obtained a slightly higher score than the standard sample and it within the 50-69 percentile. This indicates the existence of a medium-high level of Social Skill. The doctors score higher than the nurses, although these differences are not statistically significant. Copyright © 2010 Elsevier España, S.L. y SEEIUC. All rights reserved.

  11. Parental imprinting of human chromosome region 11p15.3-pter involved in the Beckwith-Wiedemann syndrome and various human neoplasia

    NARCIS (Netherlands)

    Mannens, M.; Hoovers, J. M.; Redeker, E.; Verjaal, M.; Feinberg, A. P.; Little, P.; Boavida, M.; Coad, N.; Steenman, M.; Bliek, J.

    1994-01-01

    Cytogenetic and DNA analyses of patients with the Beckwith-Wiedemann syndrome (BWS) enabled us to refine the localization of the syndrome at 11p15.3-pter to two distinct regions. One chromosome region (BWSCR1) is near the insulin (INS) and insulin-like growth factor 2 (IGF2) genes. The other region

  12. Psychotropic treatments in Prader-Willi syndrome: a critical review of published literature.

    Science.gov (United States)

    Bonnot, O; Cohen, D; Thuilleaux, D; Consoli, A; Cabal, S; Tauber, M

    2016-01-01

    Prader-Willi syndrome (PWS) is a rare genetic syndrome. The phenotype includes moderate to intellectual disability, dysmorphia, obesity, and behavioral disturbances (e.g., hetero and self-injurious behaviors, hyperphagia, psychosis). Psychotropic medications are widely prescribed in PWS for symptomatic control. We conducted a systematic review of published literature to examine psychotropic medications used in PWS. MEDLINE was searched to identify articles published between January 1967 and December 2014 using key words related to pharmacological treatments and PWS. Articles with original data were included based on a standardized four-step selection process. The identification of studies led to 241 records. All selected articles were evaluated for case descriptions (PWS and behavioral signs) and treatment (type, titration, efficiency, and side effects). Overall, 102 patients were included in these studies. Treatment involved risperidone (three reports, n = 11 patients), fluoxetine (five/n = 6), naltrexone (two/n = 2), topiramate (two/n = 16), fluvoxamine (one/n = 1), mazindol (one/n = 2), N-acetyl cysteine (one/n = 35), rimonabant (one/n = 15), and fenfluramine (one/n = 15). We identified promising treatment effects with topiramate for self-injury and impulsive/aggressive behaviors, risperidone for psychotic symptoms associated with uniparental disomy (UPD), and N-acetyl cysteine for skin picking. The pharmacological approach of behavioral impairment in PWS has been poorly investigated to date. Further randomized controlled studies are warranted. Behavioral disturbances in Prader-Willi syndrome including aggressive reactions, skin picking, and hyperphagia might be very difficult to manage. Antipsychotic drugs are widely prescribed, but weight gain and increased appetite are their major side effects. Topiramate might be efficient for self-injury and impulsive/aggressive behaviors, N-acetyl cysteine is apromising treatment for

  13. Intrathecal management of complex regional pain syndrome: A case report and literature.

    Science.gov (United States)

    Hagedorn, Jonathan M; Atallah, George

    2017-01-01

    Complex regional pain syndrome (CRPS) is a painful condition typically resulting from a traumatic event. Pain control in these patients is often difficult and requires a multimodal approach. Our objectives are to present a single intrathecal pain management regimen for CRPS and provide a literature review of intrathecal pain management options in CRPS. Case report from an academic pain management clinic. We present the case of a 29-year-old female with a past medical history of multiple lumbar spine surgeries and lumbar post-laminectomy syndrome who presented to clinic with CRPS type II of the bilateral lower extremities. After failing conservative measures, she underwent placement of a successful intrathecal drug delivery system. The use of intrathecal medications is useful for pain control in CRPS patients. We provide a framework for treatment of CRPS, which could be useful for practitioners dealing with this difficult and painful condition. Copyright © 2016 Scandinavian Association for the Study of Pain. Published by Elsevier B.V. All rights reserved.

  14. A rare form of persistent right aorta arch in linkage disequilibrium with the DiGeorge critical region on CFA26 in German Pinschers.

    Science.gov (United States)

    Philipp, Ute; Menzel, Julia; Distl, Ottmar

    2011-01-01

    Persistent right aortic arch (PRAA) is a congenital vascular ring anomaly common in several dog breeds. In German Pinscher, the disorder is characterized by a left retroesophageal subclavian artery in combination with a ligamentum arteriosum originating at the aberrant left subclavian artery (PRAA-SA-LA). In this study, we genotyped 38 microsatellite markers on canine chromosome 26 (CFA26) in German Pinschers and tested them for linkage and association. We found a chromosome-wide significantly linked genomic region on CFA26, which corresponds to the human DiGeorge syndrome critical region (DGCR). Therefore, we analyzed sequences from 13 genes of DGCR and the canine t-box gene TBX1. We identified a total of 26 polymorphisms in German Pinschers. Three of these SNPs located within TBX1 and one in the mitochondrial ribosomal protein L40 gene (MRPL40) were associated with the PRAA-SA-LA phenotype in German Pinscher. Despite linkage and association between PRAA-SA-LA and the canine DGCR, none of these mutations appeared responsible for PRAA-SA-LA. As the orthologue human region on HSA22q11.2 is known for high susceptibility to genomic rearrangements, we suspect that in German Pinschers, chromosomal aberrations might cause PRAA-SA-LA.

  15. Use of sequential diagnostic pain blocks in a patient of posttraumatic complex regional pain syndrome-not otherwise specified complicated by myofascial trigger points and thoracolumbar pain syndrome

    Directory of Open Access Journals (Sweden)

    Kailash Kothari

    2017-01-01

    Full Text Available We are presenting a case of posttraumatic lower limb Complex regional pain syndrome – Not otherwise specified (CRPS – NOS. As it was not treated in acute phase, the pain became chronic and got complicated by myofascial and thoracolumbar pain syndrome. This case posed us a diagnostic challenge. We used sequential diagnostic pain blocks to identify the pain generators and successfully treat the patient. We used diagnostic blocks step by step to identify and treat pain generators – T12,L1 and L2 Facet joints, Lumbar sympathetic block for CRPS NOS and Trigger point injection with dry needling for myofascial pain syndrome. This case highlights the facet that additional pain generators unrelated to original pain may complicate the presentation. Identifying these pain generators requires out of box thinking and high index of suspicion.

  16. Continuous Thoracic Sympathetic Ganglion Block in Complex Regional Pain Syndrome Patients with Spinal Cord Stimulation Implantation

    Directory of Open Access Journals (Sweden)

    EungDon Kim

    2016-01-01

    Full Text Available The sympathetic block is widely used for treating neuropathic pain such as complex regional pain syndrome (CRPS. However, single sympathetic block often provides only short-term effect. Moreover, frequent procedures for sympathetic block may increase the risk of complications. The use of epidural route may be limited by concern of infection in case of previous implantation of the spinal cord stimulation (SCS. In contrast, a continuous sympathetic block can be administered without such concerns. The continuous thoracic sympathetic block (TSGB has been used to treat the ischemic disease and other neuropathic conditions such as postherpetic neuralgia. We administered continuous thoracic sympathetic block using catheter in CRPS patients who underwent SCS implantations and achieved desirable outcomes. We believe a continuous sympathetic block is a considerable option before performing neurolysis or radiofrequency rhizotomy and even after SCS implantation.

  17. Refinement of the critical 2p25.3 deletion region

    DEFF Research Database (Denmark)

    De Rocker, Nina; Vergult, Sarah; Koolen, David

    2015-01-01

    and his three children and a 5' MYT1L overlapping duplication in a father and his two children. Expression analysis in zebrafish embryos shows specific myt1l expression in the developing brain. CONCLUSION: Our data strongly strengthen the hypothesis that MYT1L is the causal gene for the observed syndromal...

  18. Regional cerebral glucose metabolism is normal in young adults with Down syndrome

    International Nuclear Information System (INIS)

    Schapiro, M.B.; Grady, C.L.; Kumar, A.; Herscovitch, P.; Haxby, J.V.; Moore, A.M.; White, B.; Friedland, R.P.; Rapoport, S.I.

    1990-01-01

    Regional CMRglc (rCMRglc) values were measured with [ 18 F]2-fluoro-2-deoxy-D-glucose ( 18 FDG) and positron emission tomography (PET), using a Scanditronix PC-1024-7B scanner, in 14 healthy, noninstitutionalized subjects with trisomy 21 (Down syndrome; DS) (mean age 30.0 years, range 25-38 years) and in 13 sex-matched, healthy volunteers (mean age 29.5 years, range 22-38 years). In the DS group, mean mental age on the Peabody Picture Vocabulary Test was 7.8 years and dementia was not present. Resting rCMRglc was determined with eyes covered and ears occluded in a quiet, darkened room. Global gray CMRglc equaled 8.76 +/- 0.76 mg/100 g/min (mean +/- SD) in the DS group as compared with 8.74 +/- 1.19 mg/100 g/min in the control group (p greater than 0.05). Gray matter regional measurements also did not differ between groups. The ratio of rCMRglc to global CMRglc, calculated to reduce the variance associated with absolute rCMRglc, and right/left ratios did not show any consistent differences. These results show that healthy young DS adults do not have alterations in regional or global brain glucose metabolism, as measured with 18FDG and PET, prior to an age at which the neuropathological changes in Alzheimer disease are reported to occur

  19. Venipuncture-induced complex regional pain syndrome: a case report and review of the literature.

    Science.gov (United States)

    Elahi, Foad; Reddy, Chandan G

    2014-01-01

    Venipuncture, the most frequently performed invasive medical procedure, is usually benign. Generally it produces only transitory mild discomfort. Venipuncture-induced neuropathic pain is hard to recognize at an early stage. Medical literature reviews show that there is not adequate medical knowledge about this important subject. The inciting incident in complex regional pain syndrome (CRPS) can often seem far too trivial to result in a condition with such severe pathophysiologic effects. The practicing physician has little information available to enable early recognition of the condition, initiation of multidisciplinary treatment modalities, and proper referral to pain specialists. We encountered a unique case of venipuncture-induced complex regional pain syndrome (CRPS). The patient is a 52-year-old school teacher with no significant past medical history, who presented initially to the Center of Pain Medicine with left upper extremity pain. The pain started while phlebotomy was performed in the patient's left antecubital area for routine blood check. The patient's pain did not improve with multiple medications, physical therapy, or several nerve blocks. The patient demonstrated all the signs and symptoms of chronic neuropathic pain of CRPS in the upper extremity with minimal response to the continuous pain management. We decided to proceed with cervical spinal cord nerve stimulation along with continuing other modalities. The patient responded to this combination. During the follow-up, we noticed that the patient's pain course was complicated by extension of the CRPS to her lower extremity. We will describe the course of treatment for the patient in this paper. In this paper we will discuss the electrical neuromodulation as an important modality in addition to the multidisciplinary pain management for a patient with venipuncture-induced chronic neuropathic pain.

  20. Measuring Progress on the Control of Porcine Reproductive and Respiratory Syndrome (PRRS at a Regional Level: The Minnesota N212 Regional Control Project (Rcp as a Working Example.

    Directory of Open Access Journals (Sweden)

    Pablo Valdes-Donoso

    Full Text Available Due to the highly transmissible nature of porcine reproductive and respiratory syndrome (PRRS, implementation of regional programs to control the disease may be critical. Because PRRS is not reported in the US, numerous voluntary regional control projects (RCPs have been established. However, the effect of RCPs on PRRS control has not been assessed yet. This study aims to quantify the extent to which RCPs contribute to PRRS control by proposing a methodological framework to evaluate the progress of RCPs. Information collected between July 2012 and June 2015 from the Minnesota Voluntary Regional PRRS Elimination Project (RCP-N212 was used. Demography of premises (e.g. composition of farms with sows = SS and without sows = NSS was assessed by a repeated analysis of variance. By using general linear mixed-effects models, active participation of farms enrolled in the RCP-N212, defined as the decision to share (or not to share PRRS status, was evaluated and used as a predictor, along with other variables, to assess the PRRS trend over time. Additionally, spatial and temporal patterns of farmers' participation and the disease dynamics were investigated. The number of farms enrolled in RCP-N212 and its geographical coverage increased, but the proportion of SS and NSS did not vary significantly over time. A significant increasing (p<0.001 trend in farmers' decision to share PRRS status was observed, but with NSS producers less willing to report and a large variability between counties. The incidence of PRRS significantly (p<0.001 decreased, showing a negative correlation between degree of participation and occurrence of PRRS (p<0.001 and a positive correlation with farm density at the county level (p = 0.02. Despite a noted decrease in PRRS, significant spatio-temporal patterns of incidence of the disease over 3-weeks and 3-kms during the entire study period were identified. This study established a systematic approach to quantify the effect of RCPs on

  1. Measuring Progress on the Control of Porcine Reproductive and Respiratory Syndrome (PRRS) at a Regional Level: The Minnesota N212 Regional Control Project (Rcp) as a Working Example.

    Science.gov (United States)

    Valdes-Donoso, Pablo; Jarvis, Lovell S; Wright, Dave; Alvarez, Julio; Perez, Andres M

    2016-01-01

    Due to the highly transmissible nature of porcine reproductive and respiratory syndrome (PRRS), implementation of regional programs to control the disease may be critical. Because PRRS is not reported in the US, numerous voluntary regional control projects (RCPs) have been established. However, the effect of RCPs on PRRS control has not been assessed yet. This study aims to quantify the extent to which RCPs contribute to PRRS control by proposing a methodological framework to evaluate the progress of RCPs. Information collected between July 2012 and June 2015 from the Minnesota Voluntary Regional PRRS Elimination Project (RCP-N212) was used. Demography of premises (e.g. composition of farms with sows = SS and without sows = NSS) was assessed by a repeated analysis of variance. By using general linear mixed-effects models, active participation of farms enrolled in the RCP-N212, defined as the decision to share (or not to share) PRRS status, was evaluated and used as a predictor, along with other variables, to assess the PRRS trend over time. Additionally, spatial and temporal patterns of farmers' participation and the disease dynamics were investigated. The number of farms enrolled in RCP-N212 and its geographical coverage increased, but the proportion of SS and NSS did not vary significantly over time. A significant increasing (pPRRS status was observed, but with NSS producers less willing to report and a large variability between counties. The incidence of PRRS significantly (pPRRS (pPRRS, significant spatio-temporal patterns of incidence of the disease over 3-weeks and 3-kms during the entire study period were identified. This study established a systematic approach to quantify the effect of RCPs on PRRS control. Despite an increase in number of farms enrolled in the RCP-N212, active participation is not ensured. By evaluating the effect of participation on the occurrence of PRRS, the value of sharing information among producers may be demonstrated, in turn

  2. Critical frequency and maximum electron density of F2 region over four stations in the North American sector

    Czech Academy of Sciences Publication Activity Database

    Ezquer, R. G.; Cabrera, M. A.; López, J. L.; Albornoz, M. R.; Mosert, M.; Marcó, P.; Burešová, Dalia

    2011-01-01

    Roč. 73, č. 4 (2011), s. 420-429 ISSN 1364-6826 Institutional research plan: CEZ:AV0Z30420517 Keywords : Ionosphere * F2 region * Critical frequency * Electron density * Model Subject RIV: DG - Athmosphere Sciences, Meteorology Impact factor: 1.596, year: 2011 http://www.sciencedirect.com/science/article/pii/S1364682610002786

  3. Determination and Distribution of Critical Loads: Application to the Forest Soils in the Autonomous Region of Madrid

    International Nuclear Information System (INIS)

    Sousa, M.; Schmid, T.; Rabago, I.

    2000-01-01

    The critical loads of acidity and sulphur have been determined for forest soils within the north and northwest of the Autonomous Region of Madrid. The SMB-CCE and SMB-PROFILE steady state models have been applied using a 1 km x 1 km resolution. The forest ecosystems have been characterised according to the soil and forest type, slope and climatic data using a Geographic Information System. In order to estimate the critical loads, processes such as weathering rate of the parent material, atmospheric deposition. critical alkalinity leaching rate and nutrients absorbed by the vegetation have been considered. In general the forest soils present high critical load values for acidity and sulphur. The more sensitive zones are found in the north of the Sierra of Guadarrama. Independent of the applied methods, the results are associated to the types of soils where Leptosols have the lowest, Cambisoles and Regosoles intermediate and Luvisoles the most elevated values. (Author) 40 refs

  4. Impact of spinal cord stimulation on sensory characteristics in complex regional pain syndrome type I - A randomized trial

    NARCIS (Netherlands)

    Kemler, MA; Reulen, JPH; Barendse, GAM; van Kleef, M; de Vet, HCW; van den Wildenberg, FAJM

    Background: A randomized trial was performed to assess the effect of spinal cord stimulation (SCS) on detection and pain thresholds for pressure, warmth, and cold and on the extent of mechanical hyperalgesia in patients with chronic complex regional pain syndrome type I. Methods: Fifty-four chronic

  5. Effect of tadalafil on blood flow, pain, and function in chronic cold Complex Regional Pain Syndrome: A randomized controlled trial

    NARCIS (Netherlands)

    J.G. Groeneweg (George); F.J.P.M. Huygen (Frank); S.P. Niehof (Sjoerd); F. Wesseldijk (Feikje); J.B.J. Bussmann (Hans); F.C. Schasfoort (Fabiënne); D.L. Stronks (Dirk); F.J. Zijlstra (Freek)

    2008-01-01

    textabstractBackground. This double-blind, randomized, controlled trial investigated the effect of the phosphodiesterase-5 inhibitor tadalafil on the microcirculation in patients with cold Complex Regional Pain Syndrome (CRPS) in one lower extremity. Methods. Twenty-four patients received 20 mg

  6. Motor dysfunction in complex regional pain syndrome : the role of sensory processing and sensory-motor integration

    NARCIS (Netherlands)

    Bank, Paulina Johanna Maria

    2014-01-01

    In the chronic stage of Complex Regional Pain Syndrome (CRPS), motor disturbances are common and cause significant disability. The motor dysfunction of CRPS is a poorly understood phenomenon that is characterized predominantly by a decrease or loss of voluntary muscle control. This thesis aims to

  7. Complex regional pain syndrome (reflex sympathetic dystrophy) in a patient with essential mixed cryoglobulinemia and chronic hepatitis C.

    Science.gov (United States)

    Bant, Ankur; Hurowitz, Bertram; Hassan, Nadeem; Du, Van Thiel; Nadir, Abdul

    2007-02-01

    Essential mixed cryoglobulinemia (EMC) is a common extra-hepatic manifestation of hepatitis C virus (HCV). Complex Regional Pain Syndrome type I (CRPS) or Reflex sympathetic dystrophy (RSD) has never been reported in association with HCV. This is the first case report of RSD in a patient with HCV related cirrhosis and EMC.

  8. Effects of levosimendan for low cardiac output syndrome in critically ill patients

    DEFF Research Database (Denmark)

    Koster, Geert; Wetterslev, Jørn; Gluud, Christian

    2015-01-01

    in the systematic review and 49 trials (6,688 patients) in the meta-analysis. One trial had low risk of bias and nine trials (2,490 patients) were considered lower risk of bias. Trials compared levosimendan with placebo, control interventions, and other inotropes. Pooling all trials including heterogenous...... populations was considered inappropriate. Pooled analysis of 30 trials including critically ill patients not having cardiac surgery showed an association between levosimendan and mortality (RR 0.83, TSA-adjusted 95 % CI 0.59-0.97), while trials with lower risk of bias showed no significant difference (RR 0...

  9. Acute ventilatory failure complicating obesity hypoventilation: update on a 'critical care syndrome'.

    Science.gov (United States)

    BaHammam, Ahmed

    2010-11-01

    Obesity can result in serious complications, including obesity hypoventilation syndrome (OHS). OHS patients may present with acute-on-chronic ventilatory failure, necessitating acute care management. The purpose of this review is to discuss the recent literature on acute ventilatory failure in OHS patients. Obese persons can develop acute hypercapnic respiratory failure and sleep hypoventilation due to disorders in lung mechanics, ventilatory drive, and neurohormonal and neuromodulators of breathing. Although there are no clearly defined predictors for OHS patients who are likely to develop acute hypercapnic respiratory failure, most such patients are middle-aged (mid-50s), morbidly obese, and have daytime hypercapnia, hypoxemia, and low serum pH values. Immediate ventilatory support, without sleep study confirmation, is necessary in most such patients. Patients with respiratory acidemia (pH care unit monitoring. Noninvasive application of bilevel positive airway pressure therapy is the recommended initial ventilatory support under close monitoring. Prompt initiation of noninvasive positive pressure ventilation reduces the need for invasive mechanical ventilation and rapidly improves the levels of blood gases. Obese patients with sleep hypoventilation have an increased risk of acute hypercapnic respiratory failure. Early diagnosis and implementation of noninvasive positive pressure ventilation is recommended for these patients.

  10. MEDICATION AND APPROPRIATE PHYSICAL THERAPY OF COMPLEX REGIONAL PAIN SYNDROME PATIENTS AFTER TRAUMA

    Directory of Open Access Journals (Sweden)

    P Elizabeta

    2013-05-01

    Full Text Available Objective: Treatment of patients with complex regional pain syndrome (CRPS after trauma needs a complex physical and medical therapy, according of the stage of condition. The patient with trauma is coming to rehabilitation department, after surgery treatment. The aim of our study is to represent the effect of complexity physical therapy and medical support in treatment of patients with CRPS with evaluation of decrease of pain and increase of function in affected region.Method: we are treating 35 patients overage 35-70 years with 2 including criteria, clinical reaction of CRPS and radiologicalchanges of osteoporosis. Medication includes non steroidal anti-inflammatory drugs, tricycle antidepressants, vasoactive drugs and calcitonin. Physical therapy is consisting of electro therapy, sonophoresis and paraffin.Results: The evaluation was made with observation and measurement of pain, swelling and color of skin and movements of the joint.Conclusion: the goodness of the condition with whole time of rehabilitation 3-6 months was significant p < 0.01.

  11. Missense mutations in the growth hormone receptor dimerization region in Laron syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Berg, M.A.; Francke, U. [Howard Hughes Medical Institute, Stanford, CA (United States)]|[Univ. of Stanford, CA (United States); Geffner, M.E.; Bersch, N. [Univ. of California, Los Angeles, CA (United States)] [and others

    1994-09-01

    Laron syndrome (LS) is an autosomal recessively inherited condition characterized by insensitivity to endogenous and exogenous GH. Affected individuals have severe episodes and other characteristic features. GH receptor gene mutations are present in all affected individuals in whom molecular studies have been reported. The GH receptor is a plasma membrane-spanning protein in which the extracellular domain binds circulating GH and the intracellular domain interacts with the JAK-2 kinase and possibly other intracellular signaling molecules. GH receptor dimerization occurs on GH binding and is thought to be required for normal signal transduction. We have studied the GH receptor genes of four unrelated individuals affected with LS from the United States, Italy, Saudi Arabia, and India. We have identified four different missense mutations that alter consecutive amino acids 152 to 155 in or near the dimerization domain of the GH receptor. One of these mutations, D152H, has been reported previously in Asian LS patients and, in in vitro studies, the mutant receptor was unable to dimerize. This report increases to over 20 the number of different GH receptor gene mutations that have been reported in LS patients and defines the first apparent mutational {open_quotes}hotspot{close_quotes} region in this gene. This cluster of mutations in patients with classic LS phenotype provides additional in vivo evidence that receptor dimerization plays an important role in signaling GH`s growth promoting and metabolic effects. Further in vitro studies of the mutations in this region are in progress.

  12. Mirror box therapy added to cognitive behavioural therapy in three chronic complex regional pain syndrome type I patients : a pilot study

    NARCIS (Netherlands)

    Tichelaar, Y. I. G. Vladimir; Geertzen, Jan H. B.; Keizer, Doeke; van Wilgen, C. Paul

    Complex regional pain syndrome type I is a disorder of the extremities with disability and pain as the most prominent features. This paper describes the results of cognitive behavioural therapy combined with mirror box therapy in three patients with chronic complex regional pain syndrome type I.

  13. Complex regional pain syndrome treated with intravenous immunoglobulin in a patient with common variable immune deficiency.

    Science.gov (United States)

    Tachdjian, Raffi

    2013-12-01

    Common variable immunodeficiency (CVID) represents a large heterogeneous group of antibody-deficiency syndromes associated with a wide range of clinical features and a lack of defined causes in the realm of primary immunodeficiencies. Here, we present a case of CVID in a 62-year-old white male patient with a history of longstanding complex regional pain syndrome (CRPS). His medical history included multiple sinus infections per year and several pneumonias requiring antibiotics. He has had various back surgeries, including a laminectomy at the L4 level 1 year prior to his diagnosis. Thereafter, he underwent four sympathetic nerve blocks with minimal pain relief. Blood chemistries showed a normal white blood cell count with a normal differential, but increased erythrocyte sedimentation rate and C-reactive protein levels. Total Ig (Immunoglobulin)G was 611 mg/dL (normal 700-1,600), IgG1 was 425 mg/dL (341-894), IgG2 was 114 mg/dL (171-632), IgG3 was 14.4 mg/dL (18.4-106), and IgG4 was 7.4 mg/dL (2.4-121). IgA was 47 mg/dL (normal 70-400), IgM was 131 mg/dL (40-230), and IgE was 4.5 kU/L (post-vaccination. Upon treatment of the CVID with intravenous immunoglobulin, the patient's pain levels were significantly decreased and have been maintained for more than 2 years. Therefore, immunoglobulin therapy appears to have been beneficial in the treatment of the patient's symptoms of CRPS, including pain. Additional studies investigating the mechanism by which immunoglobulin therapy may reduce the inflammation and pain of CRPS are needed.

  14. The relationship between tourette syndrome, attention deficit hyperactivity disorder, and stimulant medication: a critical review.

    Science.gov (United States)

    Erenberg, Gerald

    2005-12-01

    The relationship between tic disorders and attention deficit hyperactivity disorder (ADHD) is of great clinical importance because both disorders can lead to emotional, social, and academic difficulties. To further complicate this interrelationship is the concern that the use of psychostimulant medication to treat ADHD will help the hyperactivity and attention problems but will lead to the onset of tics or will worsen preexisting tics. The first part of this review investigates how often Tourette syndrome (TS) is associated with ADHD and finds that ADHD has been reported in 35% to 90% of children with TS. The second part of the review looks at whether the ADHD seen in TS is the same as in children who do not have tics. Recent studies lead to the conclusion that the ADHD seen in TS is the same, although the attentional difficulties seen in TS are influenced also by the distraction of the tics themselves as well as by internal distractions such as is seen in comorbid anxiety or obsessive-compulsive behavior. The final part of the review investigates the question of whether psychostimulants worsen or cause tics. Twenty-two studies were found that investigated this possible relationship. Earlier studies were confounded by the natural pattern seen in TS in which tics spontaneously wax and wane in occurrence, intensity, and frequency. More recent double-blind, placebo-controlled studies have shown that psychostimulants are equally effective in improving ADHD symptoms whether the disorder is associated with tics or not. When group data are analyzed, there is no significant increase in tics when psychostimulants are used in patients with tics compared with controls. Individual patients, however, may experience an increase in tics. This increase is not appreciated in analysis of group data. In conclusion, it is medically appropriate to provide treatment with psychostimulant medication in persons with tics where the ADHD symptoms are significantly disturbing their quality of

  15. NEW RECOMMENDATIONS FOR APPLYING THE HEPARIN IN ACUTE CORONARY SYNDROMES: A CRITICAL VIEW

    Directory of Open Access Journals (Sweden)

    Lazar Todorovic

    2000-05-01

    Full Text Available The heparin therapy in acute myocardial infarct as well as in unstable anginapectoris is useful though risk-taking. New recommendations presented by competentassociations also included the results of the recent studies; thus, it is expected thatthey would improve the quality of daily work in the coronary unit. The cardiologistare obliged to get to know and to apply adequately the given exact advice as well asthe principles that the recommendations are based upon.Some possible shortcomings of these suggestions are also perceived; theiranalysis can help create an attitude implying that the advice is not to be taken as alaw. We consider it ethically proper to include, as an indispensable part, an explanationof one's own achievements and shortcomings in the recommendations. Thismeans that the doctors dealing with the respective urgent problems will have to takea critical view of the recommendations on the basis of their own knowledge,experience and logic.

  16. Muscle hyperalgesia is widespread in patients with complex regional pain syndrome.

    Science.gov (United States)

    van Rooijen, Diana E; Marinus, Johan; van Hilten, Jacobus J

    2013-12-01

    Patients with complex regional pain syndrome (CRPS) frequently show prominent sensory abnormalities in their affected limb, which may extend proximally and even to unaffected body regions. This study examines whether sensory dysfunction is observed in unaffected body parts of CRPS patients, and investigates whether the extent of dysfunction is similar for the various sensory modalities. Quantitative sensory testing was performed in the unaffected extremities and cheeks of 48 patients with CRPS of the arm (31 with dystonia), and the results were compared with values obtained among healthy controls. The most prominent abnormality was the pressure pain threshold, which showed a consistent pattern of higher sensitivity in unaffected contralateral arms and unaffected legs, as well as the cheek, and demonstrated the largest effect sizes. The cheeks of CRPS patients showed thermal hypoesthesia and hyperalgesia as well as a loss of vibration detection. Except for a lower vibration threshold in the contralateral leg of CRPS patients with dystonia, no differences in sensory modalities were found between CRPS patients with and without dystonia. These results point to a general disturbance in central pain processing in patients with CRPS, which may be attributed to impaired endogenous pain control. Since pressure pain is the most deviant sensory abnormality in both unaffected and affected body regions of CRPS patients, this test may serve as an important outcome parameter in future studies and may be used as a tool to monitor the course of the disease. Copyright © 2013 International Association for the Study of Pain. Published by Elsevier B.V. All rights reserved.

  17. The Use of Neurodynamic Techniques in the Conservative Treatment of Carpal Tunnel Syndrome - a Critical Appraisal of the Literature.

    Science.gov (United States)

    Wolny, Tomasz

    2017-10-31

    Carpal tunnel syndrome (CTS) is the most common peripheral neuropathy, characterized by the presence of many sensory and motor abnormalities. In the physiotherapy of patients with CTS, neurodynamic tech-niques are very common, while the scientific literature does not show clear evidence of beneficial effects obtained by using these techniques. Therefore, the aim of this work was to critically evaluate the use of neurodynamic techniques in the conservative treatment of CTS. Three electronic databases (MEDLINE, SCOPUS and POL-index) and Google Scholar were queried to find articles. The search terms were combinations of words (in Polish, English and German) contain-ing abbreviated and full versions of the following expressions: carpal tunnel syndrome, CTS, neuromobilization, neurodynamic techniques and manual therapy. Sixteen research papers met the conditions for inclusion in this review. Most of them used different methodologies of therapeutic intervention, making it difficult to interpret the results of individual works. Fourteen studies were randomized trials, one a case-control retrospective study and one was a clinical study without a control group. The most common evaluation variables were pain, nerve conduction, subjective symptoms and function, grip strength, sensation and range of motion. The therapy used neurodynamic techniques carried out by the patient or passive mobilization by the physiotherapist. 1. A review of existing studies evaluating the effec-tiveness of neurodynamic techniques in the treat-ment of CTS shows that most of them produced beneficial therapeutic effects. 2. Due to a considerable heteroge-n-ei--ty of the parti-cipants, study design and metho-do-logy of thera-peutic interventions, it is difficult to for-mulate a general conclusion. 3. Hence the need arises for further research to assess the effectiveness of neu-ro-dynamic techniques in conservative therapy of CTS based on a similar therapeutic methodology.

  18. Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomalies.

    Science.gov (United States)

    Kim, Hyung-Goo; Kim, Hyun-Taek; Leach, Natalia T; Lan, Fei; Ullmann, Reinhard; Silahtaroglu, Asli; Kurth, Ingo; Nowka, Anja; Seong, Ihn Sik; Shen, Yiping; Talkowski, Michael E; Ruderfer, Douglas; Lee, Ji-Hyun; Glotzbach, Caron; Ha, Kyungsoo; Kjaergaard, Susanne; Levin, Alex V; Romeike, Bernd F; Kleefstra, Tjitske; Bartsch, Oliver; Elsea, Sarah H; Jabs, Ethylin Wang; MacDonald, Marcy E; Harris, David J; Quade, Bradley J; Ropers, Hans-Hilger; Shaffer, Lisa G; Kutsche, Kerstin; Layman, Lawrence C; Tommerup, Niels; Kalscheuer, Vera M; Shi, Yang; Morton, Cynthia C; Kim, Cheol-Hee; Gusella, James F

    2012-07-13

    Potocki-Shaffer syndrome (PSS) is a contiguous gene disorder due to the interstitial deletion of band p11.2 of chromosome 11 and is characterized by multiple exostoses, parietal foramina, intellectual disability (ID), and craniofacial anomalies (CFAs). Despite the identification of individual genes responsible for multiple exostoses and parietal foramina in PSS, the identity of the gene(s) associated with the ID and CFA phenotypes has remained elusive. Through characterization of independent subjects with balanced translocations and supportive comparative deletion mapping of PSS subjects, we have uncovered evidence that the ID and CFA phenotypes are both caused by haploinsufficiency of a single gene, PHF21A, at 11p11.2. PHF21A encodes a plant homeodomain finger protein whose murine and zebrafish orthologs are both expressed in a manner consistent with a function in neurofacial and craniofacial development, and suppression of the latter led to both craniofacial abnormalities and neuronal apoptosis. Along with lysine-specific demethylase 1 (LSD1), PHF21A, also known as BHC80, is a component of the BRAF-histone deacetylase complex that represses target-gene transcription. In lymphoblastoid cell lines from two translocation subjects in whom PHF21A was directly disrupted by the respective breakpoints, we observed derepression of the neuronal gene SCN3A and reduced LSD1 occupancy at the SCN3A promoter, supporting a direct functional consequence of PHF21A haploinsufficiency on transcriptional regulation. Our finding that disruption of PHF21A by translocations in the PSS region is associated with ID adds to the growing list of ID-associated genes that emphasize the critical role of transcriptional regulation and chromatin remodeling in normal brain development and cognitive function. Copyright © 2012 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

  19. Water Information System Platforms Addressing Critical Societal Needs in the Mena Region

    Science.gov (United States)

    Habib, Shahid; Kfouri, Claire; Peters, Mark

    2012-01-01

    The MENA region includes 18 countries, the occupied Palestinian territories and Western Sahara. However, the region of interest for this study has a strategic interest in countries adjacent to the Mediterranean Sea, which includes, Morocco, Tunisia, Egypt, Lebanon and Jordan. The 90% of the water in the MENA region is used for the agriculture use. By the end of this century. this region is projected to experience an increase of 3 C to 5 C in mean temperatures and a 20% decline in precipitation (lPCC, 2007). Due to lower precipitation, water run-off is projected to drop by 20% to 30% in most of MENA by 2050 Reduced stream flow and groundwater recharge might lead to a reduction in water supply of 10% or greater by 2050. Therefore, per IPCC projections in temperature rise and precipitation decline in the region, the scarcity of water will become more acute with population growth, and rising demand of food in the region. Additionally, the trans boundary water issues will continue to plague the region in terms of sharing data for better management of water resources. Such pressing issues have brought The World Bank, USAID and NASA to jointly collaborate for establishing integrated, modern, up to date NASA developed capabilities for countries in the MENA region for addressing water resource issues and adapting to climate change impacts for improved decision making and societal benefit. This initiative was launched in October 2011 and is schedule to be completed by the end of2015.

  20. Electric conductivity of alkali metal vapors in the region of critical point

    International Nuclear Information System (INIS)

    Likal'ter, A.A.

    1982-01-01

    A behaviour of alkali metal conductivity in the vicinity of a critical point has been analyzed on the base of deVeloped representations on a vapor state. A phenomenological conductivity theory has been developed, which is in a good agreement with experimental data obtained

  1. The brain finger protein gene (ZNF179), a member of the RING finger family, maps within the Smith-Magenis syndrome region at 17p11.2

    Energy Technology Data Exchange (ETDEWEB)

    Kimura, Toshiyuki; Arakawa, Yoshiki; Inazawa, Johji [Kyoto Prefectural Univ. of Medicine, Kyoto (Japan)] [and others

    1997-03-31

    Smith-Magenis syndrome (SAIS) is caused by a microdeletion of 17p11.2 and comprises developmental and growth delay, facial abnormalities, unusual behavior and sleep problems. This phenotype may be due to haploinsufficiency of several contiguous genes. The human brain finger protein gene (ZNF179), a member of the RING finger protein family, has been isolated and mapped to l7p11.2. FISH analyses of metaphase or interphase chromosomes of 6 patients with SMS show that ZNF179 was deleted in one of the 2 homologs (17p11.2), indicating a possible association of the defect of this gene with the pathogenesis of SMS. Furthermore, using a prophase FISH ordering system, we sublocalized ZNF179 proximally to LLGL which lies on the critical region for SMS. 27 refs., 2 figs.

  2. Critical appraisal of ticagrelor in the management of acute coronary syndrome

    Directory of Open Access Journals (Sweden)

    Nawarskas JJ

    2011-12-01

    Full Text Available James J Nawarskas, Stanley S SnowdenUniversity of New Mexico College of Pharmacy, Albuquerque, NM, USAAbstract: Ticagrelor is a novel P2Y12 receptor antagonist which, like clopidogrel and prasugrel, functions by blocking adenosine diphosphate-mediated platelet aggregation. However, unlike the aforementioned agents, the binding of ticagrelor to this receptor is reversible. Ticagrelor is also believed to mediate some of its beneficial effects by augmenting the effects of adenosine, which is another unique pharmacologic property of this drug. In terms of antiplatelet effect, ticagrelor is more potent than clopidogrel and produces a faster and stronger inhibition of platelet aggregation. This may also be an advantage of ticagrelor over prasugrel, but this has not been adequately studied. Due to the reversible nature of the binding of ticagrelor to the platelet receptor, ticagrelor has a relatively fast offset of effect, with platelet aggregation approaching pretreatment levels about 3 days after discontinuation of therapy. This has advantages in patients requiring invasive procedures, but also makes medication adherence very important in order to be able to maintain an effective antiplatelet effect. Ticagrelor has been shown to be clinically superior to clopidogrel when given to patients with an acute coronary syndrome, resulting in significantly lower rates of myocardial infarction and vascular death. However, ticagrelor is indicated to be administered with aspirin, and the clinical benefits of ticagrelor may be less when daily dosages of aspirin exceed 100 mg. As expected, bleeding is the most common adverse effect with ticagrelor, although it occurs at rates comparable with those seen for clopidogrel with the exception of noncoronary artery bypass graft-related major bleeding and fatal intracranial bleeds, the latter of which occurs only rarely. Dyspnea is another common adverse effect with ticagrelor, although this is usually not severe and

  3. Load-Unload Response Ratio and Accelerating Moment/Energy Release Critical Region Scaling and Earthquake Prediction

    Science.gov (United States)

    Yin, X. C.; Mora, P.; Peng, K.; Wang, Y. C.; Weatherley, D.

    The main idea of the Load-Unload Response Ratio (LURR) is that when a system is stable, its response to loading corresponds to its response to unloading, whereas when the system is approaching an unstable state, the response to loading and unloading becomes quite different. High LURR values and observations of Accelerating Moment/Energy Release (AMR/AER) prior to large earthquakes have led different research groups to suggest intermediate-term earthquake prediction is possible and imply that the LURR and AMR/AER observations may have a similar physical origin. To study this possibility, we conducted a retrospective examination of several Australian and Chinese earthquakes with magnitudes ranging from 5.0 to 7.9, including Australia's deadly Newcastle earthquake and the devastating Tangshan earthquake. Both LURR values and best-fit power-law time-to-failure functions were computed using data within a range of distances from the epicenter. Like the best-fit power-law fits in AMR/AER, the LURR value was optimal using data within a certain epicentral distance implying a critical region for LURR. Furthermore, LURR critical region size scales with mainshock magnitude and is similar to the AMR/AER critical region size. These results suggest a common physical origin for both the AMR/AER and LURR observations. Further research may provide clues that yield an understanding of this mechanism and help lead to a solid foundation for intermediate-term earthquake prediction.

  4. Impaired recognition of social emotion in patients with complex regional pain syndrome.

    Science.gov (United States)

    Shin, Na Young; Kang, Do-Hyung; Jang, Joon Hwan; Park, Soo Young; Hwang, Jae Yeon; Kim, Sung Nyun; Byun, Min Soo; Park, Hye Youn; Kim, Yong Chul

    2013-11-01

    Multiple brain areas involved in nociceptive, autonomic, and social-emotional processing are disproportionally changed in patients with complex regional pain syndrome (CRPS). Little empirical evidence is available involving social cognitive functioning in patients with chronic pain conditions. We investigated the ability of patients with CRPS to recognize the mental/emotional states of other people. Forty-three patients with CRPS and 30 healthy controls performed the Reading Mind in the Eyes Test, which consists of photos in which human eyes express various emotional and mental states. Neuropsychological tests, including the Wisconsin Card Sorting Test, the stop-signal test, and the reaction time test, were administered to evaluate other cognitive functions. Patients with CRPS were significantly less accurate at recognizing emotional states in other persons, but not on other cognitive tests, compared with control subjects. We found a significant association between the deficit in social-emotion recognition and the affective dimension of pain, whereas this deficit was not related to the sensory dimension of pain. Our findings suggest a disrupted ability to recognize others' mental/emotional states in patients with CRPS. This article demonstrated a deficit in inferring mental/emotional states of others in patients with CRPS that was related to pain affect. Our study suggests that additional interventions directed toward reducing distressful affective pain may be helpful to restore social cognitive processing in patients with CRPS. Copyright © 2013 American Pain Society. Published by Elsevier Inc. All rights reserved.

  5. Complex Regional Pain Syndrome-Like Changes Following Surgery and Immobilization

    Science.gov (United States)

    Pepper, Alison; Li, Wenwu; Kingery, Wade S.; Angst, Martin S.; Curtin, Catherine M.; Clark, J. David

    2013-01-01

    The study of Complex Regional Pain Syndrome (CRPS) in humans is complicated by inhomogeneities in available study cohorts. We hoped to characterize early CRPS-like features in patients undergoing hand surgery. Forty-three patients were recruited from a hand surgery clinic that had elective surgeries followed by cast immobilization. On the day of cast removal, patients were assessed for vasomotor, sudomotor, and trophic changes, edema and pain sensitization using quantitative sensory testing. Pain intensity was assessed at the time of cast removal and after one additional month as was the nature of the pain using the Leeds Assessment of Neuropathic Symptoms and Signs (LANSS). Skin biopsies were harvested for the analysis of expression of inflammatory mediators. We identified vascular and trophic changes in the surgical hands of most patients. Increased sensitivity to punctate, pressure and cold stimuli were observed commonly as well. Moreover, levels of IL-6, TNF-alpha and the mast cell marker tryptase were elevated in the skin of hands ipsilateral to surgery. Moderate to severe pain persisted in the surgical hands for up to one month after cast removal. Exploratory analyses suggested interrelationships between the physical, QST and gene expression changes and pain related outcomes. PMID:23453564

  6. Evaluation of brain metabolite in patients with complex regional pain syndrome by MR spectroscopy

    International Nuclear Information System (INIS)

    Iwashita, Narihito; Fukui, Mikio; Nitta, Kazuhito; Anzawa, Noriyuki; Tomie, Hisashi; Nakanishi, Miho; Matsumoto, Tomikichi; Nosaka, Shuichi

    2010-01-01

    Recently brain imaging studies have shown that patients with chronic pain have an altered cortical processing of nociceptive inputs. We evaluated brain metabolites in patients with complex regional pain syndrome (CRPS) using MR spectroscopy. Absolute concentrations of N-acetylaspartate (NAA) and choline (Cho) were measured in anterior cingulate (ACC) and prefrontal cortices (PFC) of patients and volunteers as matched control. Psychological aspects of patients were also evaluated with Hospital Anxiety and Depression (HAD) scale, in addition to the intensity of pain by visual analog scale. In the ACC, CRPS patients had a significant decrease of NAA and a significant increase of Cho compared to the control. Furthermore, patients with anxiety scored by HAD scale had reduced NAA concentration in ACC compared to the patients without anxiety. In the PFC, there was a reduction of NAA in the patients compared with that in control. No correlation was observed between intensity of pain and these metabolites. These results suggest that metabolite changes in ACC and PFC could reflect the pathogenesis of CRPS. (author)

  7. Bee Venom Pharmacopuncture: An Effective Treatment for Complex Regional Pain Syndrome

    Directory of Open Access Journals (Sweden)

    Jong-Min Kim

    2014-12-01

    Full Text Available Objectives: Treating complex regional pain syndrome (CRPS is difficult because it still does not have a recommended therapy. A 29-year-old man was diagnosed with CRPS after surgery on his 4th and 5th left toes 7 years ago. Though he had undergone diverse pain treatment, the symptoms persisted, so he visited Dunsan Korean Medicine Hospital of Daejeon University. This case report presents results on the effect of bee venom pharmacopuncture in treating patient with CRPS. Methods: Bee venom pharmacopuncture (BVP, 0.15 to 0.4 mL dosage, was administered at GB43. The treatment was applied each week for a total 14 times. The symptoms were evaluated using a numeric rating scale (NRS and the dosage of pain medicine. Results: On the first visit, he was taking an anticonvulsant, a trycyclic antidepressant, and an analgesic. On the NRS the worst pain in the toes received a score of 8. He also complained of severe pain and hypersensitivity when the 4th and the 5th toes were touched just slightly. Other complaint included dyspepsia, rash, and depression. After treatment, on the NRS, the score for toe pain was 0, and he no longer needed to take pain medication. During the 4-months follow-up period, he has remained without pain; neither have additional symptoms appeared nor adverse events occurred. Conclusion: BVP may have potential benefits for treating patients with CRPS.

  8. Interaction of hyperalgesia and sensory loss in complex regional pain syndrome type I (CRPS I.

    Directory of Open Access Journals (Sweden)

    Volker Huge

    Full Text Available BACKGROUND: Sensory abnormalities are a key feature of Complex Regional Pain Syndrome (CRPS. In order to characterise these changes in patients suffering from acute or chronic CRPS I, we used Quantitative Sensory Testing (QST in comparison to an age and gender matched control group. METHODS: 61 patients presenting with CRPS I of the upper extremity and 56 healthy subjects were prospectively assessed using QST. The patients' warm and cold detection thresholds (WDT; CDT, the heat and cold pain thresholds (HPT; CPT and the occurrence of paradoxical heat sensation (PHS were observed. RESULTS: In acute CRPS I, patients showed warm and cold hyperalgesia, indicated by significant changes in HPT and CPT. WDT and CDT were significantly increased as well, indicating warm and cold hypoaesthesia. In chronic CRPS, thermal hyperalgesia declined, but CDT as well as WDT further deteriorated. Solely patients with acute CRPS displayed PHS. To a minor degree, all QST changes were also present on the contralateral limb. CONCLUSIONS: We propose three pathomechanisms of CRPS I, which follow a distinct time course: Thermal hyperalgesia, observed in acute CRPS, indicates an ongoing aseptic peripheral inflammation. Thermal hypoaesthesia, as detected in acute and chronic CRPS, signals a degeneration of A-delta and C-fibres, which further deteriorates in chronic CRPS. PHS in acute CRPS I indicates that both inflammation and degeneration are present, whilst in chronic CRPS I, the pathomechanism of degeneration dominates, signalled by the absence of PHS. The contralateral changes observed strongly suggest the involvement of the central nervous system.

  9. Chinese scalp acupuncture relieves pain and restores function in complex regional pain syndrome.

    Science.gov (United States)

    Hommer, Dean H

    2012-10-01

    Complex Regional Pain Syndrome (CRPS) can result from trauma or after surgery. It is often difficult to manage effectively. If not recognized early, it can result in significant debilitation. Symptoms attributed to CRPS include neuropathic pain, allodynia, sudomotor changes, and decreased range of motion. It can occur with (Type II) or without (Type I) nerve injury. A number of soldiers sustaining extremity injuries during combat have manifested these symptoms. Two subjects were diagnosed with CRPS after sustaining upper extremity injuries during military operations. After failing conservative treatment, Chinese Scalp Acupuncture (CSA) was used once to twice a week for 1 to 4 weeks. CSA resulted in improvement in the pain visual analog scale or numeric rating scale by over 80% in two soldiers with upper extremity CRPS. Additionally, decreased sensory changes and improved function were noted on exam and therapy assessments. Notably, the pain reduction, functional improvement, and normalization of sensation have been fully maintained between treatments. The treatment response had been sustained at 20-month follow-up with no recurrence. CSA provided lasting pain reduction, and improved function and sensation in this group of combatants with upper extremity CRPS.

  10. The Physical Therapy in the Rehabilitation of a Patient with Complex Regional Pain Syndrome

    Directory of Open Access Journals (Sweden)

    Amparo Ardila de Cháves

    2006-12-01

    Full Text Available Due to its multiple causes and non-specificsymptoms, the complex regional pain syndromeRecibido: 24 de julio de 2006.Aceptado: 22 de agosto de 2006.* Fisioterapeuta. Especialista en Docencia Universitaria.Universidad del Rosario, aardila@urosario.edu.co** Fisioterapeuta Especialista en Docencia Universitaria.Universidad del Rosario,itolosa@urosario.edu.cois one of the clinical situations that generatesgreater difficulty in the physical therapy treatment.It is defined as a vasomotor dysfunction,mediated by the sympathetic nervous systemwith a pain that grows and lingers over timeand which does not tolerate the different modalitiesand techniques used by physical therapists.For a long time, physical therapists have hada prominent role in the management of apatient’s pain, without the cause or consequenceof the same one, reason for which this revisionwanted to integrate therapeutic actions such asthe stress loading program, the desensitizationand relaxation techniques, that have givenexcellent results, to the traditional (physicalagents, ultrasound, sedative massage and differenttypes of current, to Traumatic or visceral,that compromises the sympathetic nervoussystem reflexes.

  11. Complex regional pain syndrome in pediatric sports: a case series of three young athletes.

    Science.gov (United States)

    Martínez-Silvestrini, Julio A; Micheo, William F

    2006-01-01

    Outpatient Sports Medicine Clinic. Three adolescent young female athletes who developed clinical findings compatible with complex regional pain syndrome (CRPS) after lower extremity trauma. Based on the clinical picture, the patients were identified and treated with physical therapy, which included desensitization techniques, stress loading, edema control, early mobilization and electrical stimulation. It was combined with pharmacotherapeutic measures such as non-steroidal anti-inflamatories, oral corticosteroids and gabapentin. One of the patients required serotonin selective reuptake inhibitors, opioid analgesics and acupuncture as an adjunctive treatment. All three patients had involvement of the lower extremities, with a degree of pain and edema exceeding the expected for the nature of their injury. They exhibited a good response to conservative treatment, with physical therapy playing a significant role on the treatment plan. One of the patients, whose diagnosis and treatment was delayed due to late referral, had a more severe presentation and protracted recovery. CRPS is a challenging disease that may affect young active and athletic patients. In this population, early clinical suspicion and aggressive treatment may lead to excellent clinical results and the avoidance of invasive procedures or long-term disability. Laboratory and imaging studies should be used to discard other conditions with clinical presentations similar to CRPS.

  12. Complex regional pain syndrome: are the IASP diagnostic criteria valid and sufficiently comprehensive?

    Science.gov (United States)

    Harden, R N; Bruehl, S; Galer, B S; Saltz, S; Bertram, M; Backonja, M; Gayles, R; Rudin, N; Bhugra, M K; Stanton-Hicks, M

    1999-11-01

    This is a multisite study examining the internal validity and comprehensiveness of the International Association for the Study of Pain (IASP) diagnostic criteria for Complex Regional Pain Syndrome (CRPS). A standardized sign/symptom checklist was used in patient evaluations to obtain data on CRPS-related signs and symptoms in a series of 123 patients meeting IASP criteria for CRPS. Principal components factor analysis (PCA) was used to detect statistical groupings of signs/symptoms (factors). CRPS signs and symptoms grouped together statistically in a manner somewhat different than in current IASP/CRPS criteria. As in current criteria, a separate pain/sensation criterion was supported. However, unlike in current criteria, PCA indicated that vasomotor symptoms form a factor distinct from a sudomotor/edema factor. Changes in range of motion, motor dysfunction, and trophic changes, which are not included in the IASP criteria, formed a distinct fourth factor. Scores on the pain/sensation factor correlated positively with pain duration (PIASP/CRPS criteria could be improved by separating vasomotor signs/symptoms (e.g. temperature and skin color asymmetry) from those reflecting sudomotor dysfunction (e.g. sweating changes) and edema. Results also indicate motor and trophic changes may be an important and distinct component of CRPS which is not currently incorporated in the IASP criteria. An experimental revision of CRPS diagnostic criteria for research purposes is proposed. Implications for diagnostic sensitivity and specificity are discussed.

  13. Is reflex sympathetic dystrophy/complex regional pain syndrome type I a small-fiber neuropathy?

    Science.gov (United States)

    Oaklander, Anne Louise; Fields, Howard L

    2009-06-01

    Neurologist S. Weir Mitchell first described "causalgia" following wartime nerve injury, with its persistent distal limb burning pain, swelling, and abnormal skin color, temperature, and sweating. Similar post-traumatic symptoms were later identified in patients without overt nerve injuries after trauma. This was labeled reflex sympathetic dystrophy (RSD; now complex regional pain syndrome type I [CRPS-I]). The pathophysiology of symptoms is unknown and treatment options are limited. We propose that persistent RSD/CRPS-I is a post-traumatic neuralgia associated with distal degeneration of small-diameter peripheral axons. Small-fiber lesions are easily missed on examination and are undetected by standard electrophysiological testing. Most CRPS features-spreading pain and skin hypersensitivity, vasomotor instability, osteopenia, edema, and abnormal sweating-are explicable by small-fiber dysfunction. Small fibers sense pain and temperature but also regulate tissue function through neuroeffector actions. Indeed, small-fiber-predominant polyneuropathies cause CRPS-like abnormalities, and pathological studies of nerves from chronic CRPS-I patients confirm small-fiber-predominant pathology. Small distal nerve injuries in rodents reproduce many CRPS features, further supporting this hypothesis. CRPS symptoms likely reflect combined effects of axonal degeneration and plasticity, inappropriate firing and neurosecretion by residual axons, and denervation supersensitivity. The resulting tissue edema, hypoxia, and secondary central nervous system changes can exacerbate symptoms and perpetuate pathology. Restoring the interest of neurologists in RSD/CRPS should improve patient care and broaden our knowledge of small-fiber functions.

  14. Cathepsin C gene 5'-untranslated region mutation in papillon-lefèvre syndrome.

    Science.gov (United States)

    Kosem, Rok; Debeljak, Maruša; Repič Lampret, Barbka; Kansky, Aleksej; Battelino, Tadej; Trebušak Podkrajšek, Katarina

    2012-01-01

    Papillon-Lefèvre syndrome (PLS) is a rare autosomal recessive disorder characterized by palmoplantar keratoderma together with a severe form of generalized aggressive periodontitis and associated with mutations in cathepsin C gene (CTSC). To investigate the clinical and mutational characteristics of 6 PLS patients from 4 unrelated Slovenian families. CTSC mutational and functional analyses were performed. In all patients, a novel homozygous substitution, c.-55C>A, in the CTSC 5'-untranslated region (UTR) was detected on genomic DNA level and confirmed by mRNA analysis, resulting in the almost complete loss of CTSC mRNA expression and CTSC activity. In silico analysis revealed the potential of the mutation to disrupt putative transcription factor binding sites (TFBSs) for AP-2 and Sp families of transcription factors. Identification of a novel CTSC 5'-UTR mutation together with a severe reduction of CTSC mRNA expression and virtually nonexistent CTSC activity was suggestive of a novel mechanism of TFBS dysfunction associated with PLS. Copyright © 2012 S. Karger AG, Basel.

  15. Spinal cord histopathological alterations in a patient with longstanding complex regional pain syndrome.

    Science.gov (United States)

    Del Valle, Luis; Schwartzman, Robert J; Alexander, Guillermo

    2009-01-01

    Complex regional pain syndrome (CRPS) is a chronic pain condition that usually arises from an injury or as a complication from a surgical procedure. CRPS can result from multiple mechanisms including active processes involving both the peripheral and the central nervous system and sickness like responses involving interactions between the immune and nervous systems. In animal models both peripheral and central sensitization as well as loss of inhibition has been implicated in neuropathic pain states. Glial cells, in particular microglia and astrocytes, are the immunocompetent cells in the central nervous system and are activated following tissue injury or inflammation. In animal studies, activated glia have been shown to be both necessary and sufficient for enhanced nociception. Using immunohistochemical techniques, this study evaluated the degree of astrocytic and microglial activation as well as neuronal loss in autopsy tissue from the cervical, thoracic and lumbar spinal cord of a patient afflicted with CRPS as compared to four control individuals. The major findings of this study are that in long standing CRPS there was significant posterior horn cell loss and activation of both microglia and astrocytes most prominently at the level of the original injury but extending throughout the entire length of the spinal cord. Our hope is that the data obtained from this and other studies of autopsy material may aid in elucidating the mechanisms involved in the pathophysiology of CRPS, which may lead to the refinement of current therapies as well as novel treatments.

  16. Highly restricted deletion of the SNORD116 region is implicated in Prader–Willi Syndrome

    Science.gov (United States)

    Bieth, Eric; Eddiry, Sanaa; Gaston, Véronique; Lorenzini, Françoise; Buffet, Alexandre; Conte Auriol, Françoise; Molinas, Catherine; Cailley, Dorothée; Rooryck, Caroline; Arveiler, Benoit; Cavaillé, Jérome; Salles, Jean Pierre; Tauber, Maïthé

    2015-01-01

    The SNORD116 locus lies in the 15q11-13 region of paternally expressed genes implicated in Prader–Willi Syndrome (PWS), a complex disease accompanied by obesity and severe neurobehavioural disturbances. Cases of PWS patients with a deletion encompassing the SNORD116 gene cluster, but preserving the expression of flanking genes, have been described. We report a 23-year-old woman who presented clinical criteria of PWS, including the behavioural and nutritional features, obesity, developmental delay and endocrine dysfunctions with hyperghrelinemia. We found a paternally transmitted highly restricted deletion of the SNORD116 gene cluster, the shortest described to date (118 kb). This deletion was also present in the father. This finding in a human case strongly supports the current hypothesis that lack of the paternal SNORD116 gene cluster has a determinant role in the pathogenesis of PWS. Moreover, targeted analysis of the SNORD116 gene cluster, complementary to SNRPN methylation analysis, should be carried out in subjects with a phenotype suggestive of PWS. PMID:24916642

  17. Highly restricted deletion of the SNORD116 region is implicated in Prader-Willi Syndrome.

    Science.gov (United States)

    Bieth, Eric; Eddiry, Sanaa; Gaston, Véronique; Lorenzini, Françoise; Buffet, Alexandre; Conte Auriol, Françoise; Molinas, Catherine; Cailley, Dorothée; Rooryck, Caroline; Arveiler, Benoit; Cavaillé, Jérome; Salles, Jean Pierre; Tauber, Maïthé

    2015-02-01

    The SNORD116 locus lies in the 15q11-13 region of paternally expressed genes implicated in Prader-Willi Syndrome (PWS), a complex disease accompanied by obesity and severe neurobehavioural disturbances. Cases of PWS patients with a deletion encompassing the SNORD116 gene cluster, but preserving the expression of flanking genes, have been described. We report a 23-year-old woman who presented clinical criteria of PWS, including the behavioural and nutritional features, obesity, developmental delay and endocrine dysfunctions with hyperghrelinemia. We found a paternally transmitted highly restricted deletion of the SNORD116 gene cluster, the shortest described to date (118 kb). This deletion was also present in the father. This finding in a human case strongly supports the current hypothesis that lack of the paternal SNORD116 gene cluster has a determinant role in the pathogenesis of PWS. Moreover, targeted analysis of the SNORD116 gene cluster, complementary to SNRPN methylation analysis, should be carried out in subjects with a phenotype suggestive of PWS.

  18. Central nervous system PET-CT imaging reveals regional impairments in pediatric patients with Wolfram syndrome.

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    Agnieszka Zmyslowska

    Full Text Available Wolfram syndrome (WFS is inherited as an autosomal recessive disease with main clinical features of diabetes mellitus, optic atrophy, diabetes insipidus and deafness. However, various neurological defects may also be detected. The aim of this study was to evaluate aspects of brain structure and function using PET-CT (positron emission tomography and computed tomography and MRI (magnetic resonance imaging in pediatric patients with WFS. Regional changes in brain glucose metabolism were measured using standardized uptake values (SUVs based on images of (18F fluorodeoxyglucose (FDG uptake in 7 WFS patients aged 10.1-16.0 years (mean 12.9±2.4 and in 20 healthy children aged 3-17.9 years (mean 12.8±4.1. In all patients the diagnosis of WFS was confirmed by DNA sequencing of the WFS1 gene. Hierarchical clustering showed remarkable similarities of glucose uptake patterns among WFS patients and their differences from the control group. SUV data were subsequently standardized for age groups 13 years old to account for developmental differences. Reduced SUVs in WFS patients as compared to the control group for the bilateral brain regions such as occipital lobe (-1.24±1.20 vs. -0.13±1.05; p = 0.028 and cerebellum (-1.11±0.69 vs. -0.204±1.00; p = 0.036 were observed and the same tendency for cingulate (-1.13±1.05 vs. -0.15±1.12; p = 0.056, temporal lobe (-1.10±0.98 vs. -0.15±1.10; p = 0.057, parietal lobe (-1.06±1.20 vs. -0.08±1.08; p = 0.058, central region (-1.01±1.04 vs. -0.09±1.06; p = 0.060, basal ganglia (-1.05±0.74 vs. -0.20±1.07; p = 0.066 and mesial temporal lobe (-1.06±0.82 vs. -0.26±1.08; p = 0.087 was also noticed. After adjusting for multiple hypothesis testing, the differences in glucose uptake were non-significant. For the first time, regional differences in brain glucose metabolism among patients with WFS were shown using PET-CT imaging.

  19. Complex regional pain syndrome type I affects brain structure in prefrontal and motor cortex.

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    Burkhard Pleger

    Full Text Available The complex regional pain syndrome (CRPS is a rare but debilitating pain disorder that mostly occurs after injuries to the upper limb. A number of studies indicated altered brain function in CRPS, whereas possible influences on brain structure remain poorly investigated. We acquired structural magnetic resonance imaging data from CRPS type I patients and applied voxel-by-voxel statistics to compare white and gray matter brain segments of CRPS patients with matched controls. Patients and controls were statistically compared in two different ways: First, we applied a 2-sample ttest to compare whole brain white and gray matter structure between patients and controls. Second, we aimed to assess structural alterations specifically of the primary somatosensory (S1 and motor cortex (M1 contralateral to the CRPS affected side. To this end, MRI scans of patients with left-sided CRPS (and matched controls were horizontally flipped before preprocessing and region-of-interest-based group comparison. The unpaired ttest of the "non-flipped" data revealed that CRPS patients presented increased gray matter density in the dorsomedial prefrontal cortex. The same test applied to the "flipped" data showed further increases in gray matter density, not in the S1, but in the M1 contralateral to the CRPS-affected limb which were inversely related to decreased white matter density of the internal capsule within the ipsilateral brain hemisphere. The gray-white matter interaction between motor cortex and internal capsule suggests compensatory mechanisms within the central motor system possibly due to motor dysfunction. Altered gray matter structure in dorsomedial prefrontal cortex may occur in response to emotional processes such as pain-related suffering or elevated analgesic top-down control.

  20. Complex regional pain syndrome type I affects brain structure in prefrontal and motor cortex.

    Science.gov (United States)

    Pleger, Burkhard; Draganski, Bogdan; Schwenkreis, Peter; Lenz, Melanie; Nicolas, Volkmar; Maier, Christoph; Tegenthoff, Martin

    2014-01-01

    The complex regional pain syndrome (CRPS) is a rare but debilitating pain disorder that mostly occurs after injuries to the upper limb. A number of studies indicated altered brain function in CRPS, whereas possible influences on brain structure remain poorly investigated. We acquired structural magnetic resonance imaging data from CRPS type I patients and applied voxel-by-voxel statistics to compare white and gray matter brain segments of CRPS patients with matched controls. Patients and controls were statistically compared in two different ways: First, we applied a 2-sample ttest to compare whole brain white and gray matter structure between patients and controls. Second, we aimed to assess structural alterations specifically of the primary somatosensory (S1) and motor cortex (M1) contralateral to the CRPS affected side. To this end, MRI scans of patients with left-sided CRPS (and matched controls) were horizontally flipped before preprocessing and region-of-interest-based group comparison. The unpaired ttest of the "non-flipped" data revealed that CRPS patients presented increased gray matter density in the dorsomedial prefrontal cortex. The same test applied to the "flipped" data showed further increases in gray matter density, not in the S1, but in the M1 contralateral to the CRPS-affected limb which were inversely related to decreased white matter density of the internal capsule within the ipsilateral brain hemisphere. The gray-white matter interaction between motor cortex and internal capsule suggests compensatory mechanisms within the central motor system possibly due to motor dysfunction. Altered gray matter structure in dorsomedial prefrontal cortex may occur in response to emotional processes such as pain-related suffering or elevated analgesic top-down control.

  1. Metabolic syndrome according to different definitions in a rapidly developing country of the African region

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    Paccaud Fred

    2008-09-01

    Full Text Available Abstract Aims We examined, in a country of the African region, i the prevalence of the metabolic syndrome (MetS according to three definitions (ATP, WHO and IDF; ii the distribution of the MetS criteria; iii the level of agreement between these three definitions and iv we also examined these issues upon exclusion of people with diabetes. Methods We conducted an examination survey on a sample representative of the general population aged 25–64 years in the Seychelles (Indian Ocean, African region, attended by 1255 participants (participation rate of 80.3%. Results The prevalence of MetS increased markedly with age. According to the ATP, WHO and IDF definitions, the prevalence of MetS was, respectively, 24.0%, 25.0%, 25.1% in men and 32.2%, 24.6%, 35.4% in women. Approximately 80% of participants with diabetes also had MetS and the prevalence of MetS was approximately 7% lower upon exclusion of diabetic individuals. High blood pressure and adiposity were the criteria found most frequently among MetS holders irrespective of the MetS definitions. Among people with MetS based on any of the three definitions, 78% met both ATP and IDF criteria, 67% both WHO and IDF criteria, 54% both WHO and ATP criteria and only 37% met all three definitions. Conclusion We identified a high prevalence of MetS in this population in epidemiological transition. The prevalence of MetS decreased by approximately 32% upon exclusion of persons with diabetes. Because of limited agreement between the MetS definitions, the fairly similar proportions of MetS based on any of the three MetS definitions classified, to a substantial extent, different subjects as having MetS.

  2. Neonatal Abstinence Syndrome in West Virginia Substate Regions, 2007-2013.

    Science.gov (United States)

    Stabler, Meagan E; Long, D Leann; Chertok, Ilana R A; Giacobbi, Peter R; Pilkerton, Courtney; Lander, Laura R

    2017-01-01

    The opioid epidemic is a public health threat with consequences affecting newborns. Neonatal Abstinence Syndrome (NAS) is a constellation of withdrawal symptoms resulting primarily from in utero opioid exposure. The purpose of this study was to examine NAS and drug-specific trends in West Virginia (WV), where rurality-related issues are largely present. The 2007-2013 WV Health Care Authority, Uniform Billing Data were analyzed for 119,605 newborn admissions with 1,974 NAS diagnoses. NAS (ICD9-CM 779.5) and exposure diagnostic codes for opioids, hallucinogens, and cocaine were utilized as incidence rate (IR) per 1,000 live births. Between 2007 and 2013, NAS IR significantly increased from 7.74 to 31.56 per 1,000 live births per year (Z: -19.10, P < .0001). During this time period, opioid exposure increased (Z: -9.56, P < .0001), while cocaine exposure decreased (Z: 3.62, P = .0003). In 2013, the southeastern region of the state had the highest NAS IR of 48.76 per 1,000 live births. NAS infants were more likely to experience other clinical conditions, longer hospital stay, and be insured by Medicaid. Statewide NAS IR increased 4-fold over the study period, with rates over 3 times the national annual averages. This alarming trend is deleterious for the health of WV mother-child dyads and it strains the state's health care system. Therefore, WV has a unique need for prenatal public health drug treatment and prevention resources, specifically targeting the southeastern region. Further examination of maternal drug-specific trends and general underutilization of neonatal exposure ICD-9-CM codes is indicated. © 2016 National Rural Health Association.

  3. India’s Look/Act East Policy and the Northeast Region: A Critical Perspective

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    Professor Hiranya K Nath

    2017-11-01

    Full Text Available India’s Look East Policy (LEP signifies a strategic shift in its international political, economic, and military relationships. Regional integration of its Northeast Region (NER with the countries in East, Southeast and South Asia may potentially generate economic dividends to the region. However, there are formidable challenges in realizing the potentials. The proposed infrastructure projects, if completed with no further delay, will go a long way in improving connectivity with the neighbouring countries. However, improving connectivity within the region and with the rest of the country is also very important. Further, it would require a comprehensive long-term plan with well-defined projects for developing industries and services including education, health and tourism. Building infrastructure, ensuring socio-political stability and ecological balance, and improving the quality of institutions would be a major part of this plan.

  4. Lung Injury Prediction Score Is Useful in Predicting Acute Respiratory Distress Syndrome and Mortality in Surgical Critical Care Patients

    Directory of Open Access Journals (Sweden)

    Zachary M. Bauman

    2015-01-01

    Full Text Available Background. Lung injury prediction score (LIPS is valuable for early recognition of ventilated patients at high risk for developing acute respiratory distress syndrome (ARDS. This study analyzes the value of LIPS in predicting ARDS and mortality among ventilated surgical patients. Methods. IRB approved, prospective observational study including all ventilated patients admitted to the surgical intensive care unit at a single tertiary center over 6 months. ARDS was defined using the Berlin criteria. LIPS were calculated for all patients and analyzed. Logistic regression models evaluated the ability of LIPS to predict development of ARDS and mortality. A receiver operator characteristic (ROC curve demonstrated the optimal LIPS value to statistically predict development of ARDS. Results. 268 ventilated patients were observed; 141 developed ARDS and 127 did not. The average LIPS for patients who developed ARDS was 8.8±2.8 versus 5.4±2.8 for those who did not (p<0.001. An ROC area under the curve of 0.79 demonstrates LIPS is statistically powerful for predicting ARDS development. Furthermore, for every 1-unit increase in LIPS, the odds of developing ARDS increase by 1.50 (p<0.001 and odds of ICU mortality increase by 1.22 (p<0.001. Conclusion. LIPS is reliable for predicting development of ARDS and predicting mortality in critically ill surgical patients.

  5. Weakness in the ICU: Guillain-Barré syndrome, myasthenia gravis, and critical illness polyneuropathy/myopathy.

    Science.gov (United States)

    Green, Deborah M

    2005-11-01

    Weakness in the ICU may be caused by a number of disorders. Guillain-Barré syndrome (GBS) and myasthenia gravis (MG) are examples of conditions that might lead to an ICU admission. The most likely cause of weakness after ICU admission is critical illness polyneuropathy/myopathy (CIP/M). Studies have attempted to determine both clinical and pulmonary function criteria for the proper timing of intubation in severe GBS and MG. Optimizing medical management of patients with GBS, MG, and CIP/M is essential in reducing the high morbidity and mortality associated with these conditions. This includes measures to prevent deep venous thrombosis, gastric and decubitus ulcer prophylaxis, and chest physiotherapy. Both intravenous immunoglobulin (IVIG) and therapeutic plasma exchange (TPE) are probably equal in efficacy for the treatment of GBS, although relapse rates may differ. Treatment of MG crisis with TPE or IVIG must be followed by long-term immunosuppression. Studies suggest possible preventative measures for CIP/M such as tighter glycemic control but there are still no definitive treatments. Research to advance our knowledge of the pathogenesis of GBS, MG, and CIP/M is clearly needed to develop more specific and more effective treatments in the future. In the meantime, measures that optimize medical management can be instituted to improve outcomes in patients with these conditions, preferably in a specialized neuroscience ICU setting.

  6. Mutagenesis of tGCN5 core region reveals two critical surface residues F90 and R140

    Energy Technology Data Exchange (ETDEWEB)

    Mehta, Kinjal Rajesh; Chan, Yan M.; Lee, Man X.; Yang, Ching Yao; Voloshchuk, Natalya [Department of Chemical and Biological Sciences, Polytechnic Institute of New York University, 6 MetroTech Center, Brooklyn, NY 11201 (United States); Montclare, Jin Kim, E-mail: jmontcla@poly.edu [Department of Chemical and Biological Sciences, Polytechnic Institute of New York University, 6 MetroTech Center, Brooklyn, NY 11201 (United States); Department of Biochemistry, SUNY-Downstate Medical Center, 450 Clarkson Avenue, Brooklyn, NY 11203 (United States)

    2010-09-24

    Research highlights: {yields} Mutagenesis of the tGCN5 core region reveals two residues important for function. {yields} Developed a fluorescent lysate-based activity assay to assess mutants. {yields} Surface-exposed residues F90 and R140 of tGCN5 are critical for H3 acetylation. -- Abstract: Tetrahymena General Control Non-Derepressor 5 (tGCN5) is a critical regulator of gene transcription via acetylation of histones. Since the acetylation ability has been attributed to the 'core region', we perform mutagenesis of residues within the tGCN5 'core region' in order to identify those critical for function and stability. Residues that do not participate in catalysis are identified, mutated and characterized for activity, structure and thermodynamic stability. Variants I107V, Q114L, A121T and A130S maintain the acetylation function relative to wild-type tGCN5, while variants F90Y, F112R and R140H completely abolish function. Of the three non-functional variants, since F112 is mutated into a non-homologous charged residue, a loss in function is expected. However, the remaining two variants are mutated into homologous residues, suggesting that F90 and R140 are critical for the activity of tGCN5. While mutation to homologous residue maintains acetylation of histone H3 for the majority of the variants, the two surface-exposed residues, F90 and R140, appear to be essential for tGCN5 function, structure or stability.

  7. Array comparative genomic hybridization in patients with congenital diaphragmatic hernia: mapping of four CDH-critical regions and sequencing of candidate genes at 15q26.1-15q26.2.

    Science.gov (United States)

    Slavotinek, Anne M; Moshrefi, Ali; Davis, Randy; Leeth, Elizabeth; Schaeffer, G Bradley; Burchard, González Esteban; Shaw, Gary M; James, Bristow; Ptacek, Louis; Pennacchio, Len A

    2006-09-01

    Congenital diaphragmatic hernia (CDH) is a common birth defect with a high mortality and morbidity. There have been few studies that have assessed copy number changes in CDH. We present array comparative genomic hybridization data for 29 CDH patients to identify and map chromosome aberrations in this disease. Three patients with 15q26.1-15q26.2 deletions had heterogeneous breakpoints that overlapped with the critical 4 Mb region previously delineated for CDH, confirming 15q26.1-15q26.2 as a critical region for CDH. The three other most compelling CDH-critical regions for genomic deletions based on these data and a literature review are located at chromosomes 8p23.1, 4p16.3-4pter, and 1q41-1q42.1. Based on these recurrent deletions at 15q26.1-15q26.2, we hypothesized that loss-of-function mutations in a gene or genes from this region could cause CDH and sequenced six candidate genes from this region in more than 100 patients with CDH. For three of these genes (CHD2, ARRDC4, and RGMA), we identified missense changes and that were not identified in normal controls; however, none of these alterations appeared unambiguously causal with CDH. These data suggest that CDH caused by chromosome deletions at 15q26.2 may arise because of a contiguous gene deletion syndrome or may have a multifactorial etiology. In addition, there is evidence for substantial genetic heterogeneity in CDH and diaphragmatic hernias can be non-penetrant in patients who have deletions involving CDH-critical regions.

  8. A PROVISIONAL TRANSCRIPT MAP OF THE SPINAL MUSCULAR-ATROPHY (SMA) CRITICAL REGION

    NARCIS (Netherlands)

    VANDERSTEEGE, G; DRAAIJERS, TG; GROOTSCHOLTEN, PM; OSINGA, J; ANZEVINO, R; VELONA, [No Value; DENDUNNEN, JT; SCHEFFER, H; BRAHE, C; VANOMMEN, GJB; BUYS, CHCM

    1995-01-01

    YACs from the region containing the spinal muscular atrophy (SMA) locus at 5q12 have been used as probes in a direct screening of cDNA libraries to isolate 8 cDNAs, mapped to different YAC fragments. Three clones showed complete identity to the genes for cyclin B1 (CCNB1), the p44 subunit of the

  9. GNE-886: A Potent and Selective Inhibitor of the Cat Eye Syndrome Chromosome Region Candidate 2 Bromodomain (CECR2).

    Science.gov (United States)

    Crawford, Terry D; Audia, James E; Bellon, Steve; Burdick, Daniel J; Bommi-Reddy, Archana; Côté, Alexandre; Cummings, Richard T; Duplessis, Martin; Flynn, E Megan; Hewitt, Michael; Huang, Hon-Ren; Jayaram, Hariharan; Jiang, Ying; Joshi, Shivangi; Kiefer, James R; Murray, Jeremy; Nasveschuk, Christopher G; Neiss, Arianne; Pardo, Eneida; Romero, F Anthony; Sandy, Peter; Sims, Robert J; Tang, Yong; Taylor, Alexander M; Tsui, Vickie; Wang, Jian; Wang, Shumei; Wang, Yongyun; Xu, Zhaowu; Zawadzke, Laura; Zhu, Xiaoqin; Albrecht, Brian K; Magnuson, Steven R; Cochran, Andrea G

    2017-07-13

    The biological function of bromodomains, epigenetic readers of acetylated lysine residues, remains largely unknown. Herein we report our efforts to discover a potent and selective inhibitor of the bromodomain of cat eye syndrome chromosome region candidate 2 (CECR2). Screening of our internal medicinal chemistry collection led to the identification of a pyrrolopyridone chemical lead, and subsequent structure-based drug design led to a potent and selective CECR2 bromodomain inhibitor (GNE-886) suitable for use as an in vitro tool compound.

  10. Association of non-traumatic complex regional pain syndrome with adenocarcinoma lung on 99mTc-MDP bone scan

    Science.gov (United States)

    Damle, Nishikant A; Tripathi, Madhavi; Singhal, Abhinav; Bal, Chandrasekhar; Kumar, Praveen; Kandasamy, Devasenathipathi; Jana, Manisha

    2012-01-01

    Complex regional pain syndrome (CRPS) is usually associated with trauma. Rarely, it may be seen in association with malignancies. We present here the bone scan and X-ray findings in the case of a 56-year-male-patient with adenocarcinoma lung who also had non-traumatic CRPS without involvement of the stellate ganglion. The case highlights the fact that spontaneous development of reflex sympathetic dystrophy may be associated with a neoplastic etiology. PMID:24019656

  11. Association of non-traumatic complex regional pain syndrome with adenocarcinoma lung on 99mTc-MDP bone scan

    International Nuclear Information System (INIS)

    Damle, Nishikant A.; Tripathi, Madhavi; Singhal, Abhinav; Bal, Chandrasekhar; Praveen Kumar; Kandasamy, Devasenathipathi; Jana, Manisha

    2012-01-01

    Complex regional pain syndrome (CRPS) is usually associated with trauma. Rarely, it may be seen in association with malignancies. We present here the bone scan and X-ray findings in the case of a 56-year-male-patient with adenocarcinoma lung who also had non-traumatic CRPS without involvement of the stellate ganglion. The case highlights the fact that spontaneous development of reflex sympathetic dystrophy may be associated with a neoplastic etiology. (author)

  12. Applying Critical Discourse Analysis in Health Policy Research: Case Studies in Regional, Organizational, and Global Health.

    Science.gov (United States)

    Evans-Agnew, Robin A; Johnson, Susan; Liu, Fuqin; Boutain, Doris M

    2016-08-01

    Critical discourse analysis (CDA) is a promising methodology for policy research in nursing. As a critical theoretical methodology, researchers use CDA to analyze social practices and language use in policies to examine whether such policies may promote or impede social transformation. Despite the widespread use of CDA in other disciplines such as education and sociology, nursing policy research employing CDA methodology is sparse. To advance CDA use in nursing science, it is important to outline the overall research strategies and describe the steps of CDA in policy research. This article describes, using exemplar case studies, how nursing and health policy researchers can employ CDA as a methodology. Three case studies are provided to discuss the application of CDA research methodologies in nursing policy research: (a) implementation of preconception care policies in the Zhejiang province of China, (b) formation and enactment of statewide asthma policy in Washington state of the United States, and (c) organizational implementation of employee antibullying policies in hospital systems in the Pacific Northwest of the United States. Each exemplar details how CDA guided the examination of policy within specific contexts and social practices. The variations of the CDA approaches in the three exemplars demonstrated the flexibilities and potentials for conducting policy research grounded in CDA. CDA provides novel insights for nurse researchers examining health policy formation, enactment, and implementation. © The Author(s) 2016.

  13. Behavior of thermal diffusion of hydrofluorocarbon HFC-32 near the critical region

    Science.gov (United States)

    Tsvetkov, O. B.; Laptev, Yu A.; Rykov, S. V.; Galahova, N. A.; Kolbasijk, K. S.

    2017-11-01

    HCFC-22 prohibited after 2020 Year. The thermal diffusion values of HFC-32 were determined using a received cross-over equation of state and available experimental thermal-conductivity data reported by a number of investigations including the authors of this work. Extensive measurements have been obtained for thermal conductivity of difluoromethane with a steady-state method for which coaxial-cylinder apparatus was employed. The sample fluid was located in a gap between two vertical cylinders. The occurrence of convection in the fluid was avoided one to application of small temperature differences across the gap. The range of state points studied includes those with densities from 70 to 1000 kg·m‑3, temperatures from 294 to 350 K and pressures up to 7 MPa. The isobaric specific heat values were determined from the crossover equation of state based on the phenomenological theory of a critical point and Benedek’s hypothesis. A theoretically based crossover model is capable to represent the thermodynamic properties of HFC-32 in a large range of temperatures and densities including the critical point.

  14. Motor cortical activity during motor tasks is normal in patients with complex regional pain syndrome.

    Science.gov (United States)

    van Velzen, Gijsbrecht A J; Marinus, Johan; van Dijk, J Gert; van Zwet, Erik W; Schipper, Inger B; van Hilten, Jacobus J

    2015-01-01

    Motor dysfunction in complex regional pain syndrome (CRPS) is often considered a functional movement disorder. Earlier studies in patients with functional movement disorders found evidence of cortical inhibition during explicit but not implicit motor tasks, suggesting active inhibition from other brain areas. In this study, we explored whether active inhibition occurs in CRPS patients. We compared patients with CRPS with 2 control groups: healthy controls matched for age and sex, and patients whose hand was immobilized to treat a scaphoid fracture. We used transcranial magnetic stimulation to measure corticospinal excitability at rest and during motor imagery (explicit motor task) and motor observation (implicit motor task). Motor corticospinal excitation measured at rest and during implicit and explicit motor tasks was similar for CRPS patients and healthy controls. Patients with an immobilized hand showed an absence of motor cortical excitation of the corresponding hemisphere during motor imagery of tasks involving the immobilized hand, but not during motor observation. The normal motor cortical processing during motor imagery and motor observation found in the corresponding hemisphere of CPRS patients suggests that the nature of motor dysfunction in this condition differs from that described in literature for patients with functional paresis or under circumstances of limb immobilization. This study shows that the nature of motor dysfunction in CRPS patients differs from that encountered in patients with functional paresis or under circumstances of limb immobilization. This information is important for patients and pain clinicians and could help prevent implementation of therapeutic strategies based on incorrect assumptions. Copyright © 2015 American Pain Society. Published by Elsevier Inc. All rights reserved.

  15. Global adiposity rather than abnormal regional fat distribution characterizes women with polycystic ovary syndrome.

    Science.gov (United States)

    Barber, Thomas M; Golding, Stephen J; Alvey, Christopher; Wass, John A H; Karpe, Fredrik; Franks, Stephen; McCarthy, Mark I

    2008-03-01

    Obesity-related predisposition to polycystic ovary syndrome (PCOS) could reflect overall adiposity and/or regional accumulation of abdominal visceral fat. The objective of the study was to compare distributions of visceral, abdominal sc, and gluteofemoral sc adipose tissue in PCOS cases vs. control women. This was a cross-sectional study. Fat depot measurements from axial magnetic resonance imaging scans taken at anatomically predefined sites were compared between 22 body mass index (BMI)/fat mass-matched pairs of PCOS cases and controls; whole-group comparisons included 50 PCOS cases vs. 28 female controls. All subjects were of UK British/Irish origin. We measured cross-sectional areas of adipose tissue within visceral (mid-L4), abdominal (mid-L4) sc, and gluteofemoral (greater trochanteric and midfemoral) sc fat depots. Other measurements included fat mass, BMI, testosterone, SHBG, and homeostasis model assessment of insulin resistance (a measure of insulin sensitivity). Whole-group analyses were adjusted for fat mass and age. There were no significant differences in fat-depot measurements between BMI/fat mass-matched pairs of PCOS cases and controls: mid-L4 visceral (P=0.40), abdominal sc (P=0.22), gluteal sc (P=0.67), and midfemoral sc (P=0.37) depots. Whole-group comparisons gave similar results after adjustments for fat mass and age. Fasting serum insulin concentrations (P=0.03) and homeostasis model assessment of insulin resistance (P=0.03) were significantly higher in the PCOS group than BMI/fat mass-matched controls. PCOS cases and BMI/fat mass-matched control women are indistinguishable with respect to distribution of fat within visceral, abdominal sc, and gluteofemoral sc depots, despite significant differences in insulin resistance between these two groups.

  16. Changes in plasma cytokines and their soluble receptors in complex regional pain syndrome.

    Science.gov (United States)

    Alexander, Guillermo M; Peterlin, B Lee; Perreault, Marielle J; Grothusen, John R; Schwartzman, Robert J

    2012-01-01

    Complex Regional Pain Syndrome (CRPS) is a chronic and often disabling pain disorder. There is evidence demonstrating that neurogenic inflammation and activation of the immune system play a significant role in the pathophysiology of CRPS. This study evaluated the plasma levels of cytokines, chemokines, and their soluble receptors in 148 subjects afflicted with CRPS and in 60 gender- and age-matched healthy controls. Significant changes in plasma cytokines, chemokines, and their soluble receptors were found in subjects with CRPS as compared with healthy controls. For most analytes, these changes resulted from a distinct subset of the CRPS subjects. When the plasma data from the CRPS subjects was subjected to cluster analysis, it revealed 2 clusters within the CRPS population. The category identified as most important for cluster separation by the clustering algorithm was TNFα. Cluster 1 consisted of 64% of CRPS subjects and demonstrated analyte values similar to the healthy control individuals. Cluster 2 consisted of 36% of the CRPS subjects and demonstrated significantly elevated levels of most analytes and in addition, it showed that the increased plasma analyte levels in this cluster were correlated with disease duration and severity. The identification of biomarkers that define disease subgroups can be of great value in the design of specific therapies and of great benefit to the design of clinical trials. It may also aid in advancing our understanding of the mechanisms involved in the pathophysiology of CRPS, which may lead to novel treatments for this very severe condition. Copyright © 2012 American Pain Society. Published by Elsevier Inc. All rights reserved.

  17. Complex Regional Pain Syndrome following an Episode of Herpes Zoster: A Case Report.

    Science.gov (United States)

    Marrero, Christopher E; Mclean, Neuyen; Varnado, Keyana

    2017-01-01

    Complex regional pain syndrome (CRPS) is characterized by searing pain, hyperalgesia, edema, allodynia, and skin changes. CRPS may be difficult to diagnose and to treat given poorly understood mechanisms as well as its presentation of symptoms that may mimic common conditions such as joint stiffness in this condition as well as rheumatoid arthritis. A 71-year-old female presented to our clinic post shingles of the right upper extremity. We diagnosed her with CRPS based on the Budapest diagnostic criteria and the clinical findings of pain and decreased the range of motion along with edema, hypersensitivity, discoloration and allodynia of the right thumb and index finger. She was treated with vitamin C as well as gabapentin and physical therapy. The patient was unable to go consistently to physical therapy due to insurance limitations, and we found no clinical benefit of vitamin C in reducing her symptoms. She was lost to follow-up during her treatment but re-emerged at 21 months. At that time she reported, she was largely unchanged in regards to her right-hand symptoms but did believe the gabapentin was helpful and still continued to take 300 mg daily. This case report highlights the usefulness of the Budapest diagnostic criteria to make the diagnosis of CRPS when associated with shingles, which can cause long-term pain and mimic some findings. Prompt diagnosis is important, as recovery typically extends beyond 6 months; our patient still reported continued symptoms at 21 months post initial presentation. Our primary treatment plan was physical therapy, which she discontinued due to insurance limitations. We recommend that patients, physicians, and third-party payers work together to extend access to physical therapy. More investigation is warranted regarding symptomatic treatment, as we found limited clinical benefit of gabapentin and vitamin C.

  18. Selective Fiber Degeneration in the Peripheral Nerve of a Patient With Severe Complex Regional Pain Syndrome

    Directory of Open Access Journals (Sweden)

    Adrien Yvon

    2018-04-01

    Full Text Available Aims: Complex regional pain syndrome (CRPS is characterized by chronic debilitating pain disproportional to the inciting event and accompanied by motor, sensory, and autonomic disturbances. The pathophysiology of CRPS remains elusive. An exceptional case of severe CRPS leading to forearm amputation provided the opportunity to examine nerve histopathological features of the peripheral nerves.Methods: A 35-year-old female developed CRPS secondary to low voltage electrical injury. The CRPS was refractory to medical therapy and led to functional loss of the forelimb, repeated cutaneous wound infections leading to hospitalization. Specifically, the patient had exhausted a targeted conservative pain management programme prior to forearm amputation. Radial, median, and ulnar nerve specimens were obtained from the amputated limb and analyzed by light and transmission electron microscopy (TEM.Results: All samples showed features of selective myelinated nerve fiber degeneration (47–58% of fibers on electron microscopy. Degenerating myelinated fibers were significantly larger than healthy fibers (p < 0.05, and corresponded to the larger Aα fibers (motor/proprioception whilst smaller Aδ (pain/temperature fibers were spared. Groups of small unmyelinated C fibers (Remak bundles also showed evidence of degeneration in all samples.Conclusions: We are the first to show large fiber degeneration in CRPS using TEM. Degeneration of Aα fibers may lead to an imbalance in nerve signaling, inappropriately triggering the smaller healthy Aδ fibers, which transmit pain and temperature. These findings suggest peripheral nerve degeneration may play a key role in CRPS. Improved knowledge of pathogenesis will help develop more targeted treatments.

  19. Probing the critical behavior in the evolution of GDR width at very low temperatures in A∼100 mass region

    Energy Technology Data Exchange (ETDEWEB)

    Dey, Balaram; Mondal, Debasish; Pandit, Deepak; Mukhopadhyay, S.; Pal, Surajit [Variable Energy Cyclotron Centre, 1/AF-Bidhannagar, Kolkata 700064 (India); Bhattacharya, Srijit [Department of Physics, Barasat Govt. College, Barasat, N 24 Pgs, Kolkata 700124 (India); De, A. [Department of Physics, Raniganj Girls' College, Raniganj 713358 (India); Banerjee, K. [Variable Energy Cyclotron Centre, 1/AF-Bidhannagar, Kolkata 700064 (India); Dinh Dang, N. [Theoretical Nuclear Physics Laboratory, RIKEN Nishina Center for Accelerator-Based Science, RIKEN, 2-1 Hirosawa, Wako city, Saitama 351-0198 (Japan); Quang Hung, N. [School of Engineering, Tan Tao University, Tan Tao University Avenue, Tan Duc Ecity, Duc Hoa, Long An Province (Viet Nam); Banerjee, S.R., E-mail: srb@vecc.gov.in [Variable Energy Cyclotron Centre, 1/AF-Bidhannagar, Kolkata 700064 (India)

    2014-04-04

    The influence of giant dipole resonance (GDR) induced quadrupole moment on GDR width at low temperatures is investigated experimentally by measuring GDR width systematically in the unexplored temperature range T=0.8–1.5 MeV, for the first time, in A∼100 mass region. The measured GDR widths, using alpha induced fusion reaction, for {sup 97}Tc confirm that the GDR width remains constant at the ground state value up to a critical temperature and increases sharply thereafter with increase in T. The data have been compared with the adiabatic Thermal Shape Fluctuation Model (TSFM), phenomenological Critical Temperature Fluctuation Model (CTFM) and microscopic Phonon Damping Model (PDM). Interestingly, CTFM and PDM give similar results and agree with the data, whereas the TSFM differs significantly even after incorporating the shell effects.

  20. Probing the critical behavior in the evolution of GDR width at very low temperatures in A∼100 mass region

    International Nuclear Information System (INIS)

    Dey, Balaram; Mondal, Debasish; Pandit, Deepak; Mukhopadhyay, S.; Pal, Surajit; Bhattacharya, Srijit; De, A.; Banerjee, K.; Dinh Dang, N.; Quang Hung, N.; Banerjee, S.R.

    2014-01-01

    The influence of giant dipole resonance (GDR) induced quadrupole moment on GDR width at low temperatures is investigated experimentally by measuring GDR width systematically in the unexplored temperature range T=0.8–1.5 MeV, for the first time, in A∼100 mass region. The measured GDR widths, using alpha induced fusion reaction, for 97 Tc confirm that the GDR width remains constant at the ground state value up to a critical temperature and increases sharply thereafter with increase in T. The data have been compared with the adiabatic Thermal Shape Fluctuation Model (TSFM), phenomenological Critical Temperature Fluctuation Model (CTFM) and microscopic Phonon Damping Model (PDM). Interestingly, CTFM and PDM give similar results and agree with the data, whereas the TSFM differs significantly even after incorporating the shell effects.

  1. Identification of conserved regions and residues within Hedgehog acyltransferase critical for palmitoylation of Sonic Hedgehog.

    Directory of Open Access Journals (Sweden)

    John A Buglino

    2010-06-01

    Full Text Available Sonic hedgehog (Shh is a palmitoylated protein that plays key roles in mammalian development and human cancers. Palmitoylation of Shh is required for effective long and short range Shh-mediated signaling. Attachment of palmitate to Shh is catalyzed by Hedgehog acyltransferase (Hhat, a member of the membrane bound O-acyl transferase (MBOAT family of multipass membrane proteins. The extremely hydrophobic composition of MBOAT proteins has limited their biochemical characterization. Except for mutagenesis of two conserved residues, there has been no structure-function analysis of Hhat, and the regions of the protein required for Shh palmitoylation are unknown.Here we undertake a systematic approach to identify residues within Hhat that are required for protein stability and/or enzymatic activity. We also identify a second, novel MBOAT homology region (residues 196-234 that is required for Hhat activity. In total, ten deletion mutants and eleven point mutants were generated and analyzed. Truncations at the N- and C-termini of Hhat yielded inactive proteins with reduced stability. Four Hhat mutants with deletions within predicted loop regions and five point mutants retained stability but lost palmitoylation activity. We purified two point mutants, W378A and H379A, with defective Hhat activity. Kinetic analyses revealed alterations in apparent K(m and V(max for Shh and/or palmitoyl CoA, changes that likely explain the catalytic defects observed for these mutants.This study has pinpointed specific regions and multiple residues that regulate Hhat stability and catalysis. Our findings should be applicable to other MBOAT proteins that mediate lipid modification of Wnt proteins and ghrelin, and should serve as a model for understanding how secreted morphogens are modified by palmitoyl acyltransferases.

  2. A unique genomic sequence in the Wolf-Hirschhorn syndrome [WHS] region of humans is conserved in the great apes.

    Science.gov (United States)

    Tarzami, S T; Kringstein, A M; Conte, R A; Verma, R S

    1996-10-01

    The Wolf-Hirschhorn syndrome (WHS) is caused by a partial deletion in the short arm of chromosome 4 band 16.3 (4p 16.3). A unique-sequence human DNA probe (39 kb) localized within this region has been used to search for sequence homology in the apes' equivalent chromosome 3 by FISH-technique. The WHS loci are conserved in higher primates at the expected position. Nevertheless, a control probe, which detects alphoid sequences of the pericentromeric region of humans, is diverged in chimpanzee, gorilla, and orangutan. The conservation of WHS loci and divergence of DNA alphoid sequences have further added to the controversy concerning human descent.

  3. Critical strain region evaluation of self-assembled semiconductor quantum dots

    Energy Technology Data Exchange (ETDEWEB)

    Sales, D L [Departamento de Ciencia de los Materiales e I. M. y Q. I., Universidad de Cadiz, Puerto Real, Cadiz (Spain); Pizarro, J [Departamento de Lenguajes y Sistemas Informaticos, Universidad de Cadiz, Puerto Real, Cadiz (Spain); Galindo, P L [Departamento de Lenguajes y Sistemas Informaticos, Universidad de Cadiz, Puerto Real, Cadiz (Spain); Garcia, R [Departamento de Ciencia de los Materiales e I. M. y Q. I., Universidad de Cadiz, Puerto Real, Cadiz (Spain); Trevisi, G [CNR-IMEM Institute, Parco delle Scienze 37a, 43100, Parma (Italy); Frigeri, P [CNR-IMEM Institute, Parco delle Scienze 37a, 43100, Parma (Italy); Nasi, L [CNR-IMEM Institute, Parco delle Scienze 37a, 43100, Parma (Italy); Franchi, S [CNR-IMEM Institute, Parco delle Scienze 37a, 43100, Parma (Italy); Molina, S I [Departamento de Ciencia de los Materiales e I. M. y Q. I., Universidad de Cadiz, Puerto Real, Cadiz (Spain)

    2007-11-28

    A novel peak finding method to map the strain from high resolution transmission electron micrographs, known as the Peak Pairs method, has been applied to In(Ga)As/AlGaAs quantum dot (QD) samples, which present stacking faults emerging from the QD edges. Moreover, strain distribution has been simulated by the finite element method applying the elastic theory on a 3D QD model. The agreement existing between determined and simulated strain values reveals that these techniques are consistent enough to qualitatively characterize the strain distribution of nanostructured materials. The correct application of both methods allows the localization of critical strain zones in semiconductor QDs, predicting the nucleation of defects, and being a very useful tool for the design of semiconductor devices.

  4. Differences in the Thoracic Aorta by Region and Sex in a Murine Model of Marfan Syndrome.

    Science.gov (United States)

    Jiménez-Altayó, Francesc; Siegert, Anna-Maria; Bonorino, Fabio; Meirelles, Thayna; Barberà, Laura; Dantas, Ana P; Vila, Elisabet; Egea, Gustavo

    2017-01-01

    Marfan syndrome (MFS) is a hereditary disorder of the connective tissue that causes life-threatening aortic aneurysm, which initiates at the aortic root and can progress into the ascending portion. However, analysis of ascending aorta reactivity in animal models of MFS has remained elusive. Epidemiologic evidence suggests that although MFS is equally prevalent in men and women, men are at a higher risk of aortic complications than non-pregnant women. Nevertheless, there is no experimental evidence to support this hypothesis. The aim of this study was to explore whether there are regional and sex differences in the thoracic aorta function of mice heterozygous for the fibrillin 1 ( Fbn1 ) allele encoding a missense mutation ( Fbn1 C1039G/+ ), the most common class of mutation in MFS. Ascending and descending thoracic aorta reactivity was evaluated by wire myography. Ascending aorta mRNA and protein levels, and elastic fiber integrity were assessed by qRT-PCR, Western blotting, and Verhoeff-Van Gieson histological staining, respectively. MFS differently altered reactivity in the ascending and descending thoracic aorta by either increasing or decreasing phenylephrine contractions, respectively. When mice were separated by sex, contractions to phenylephrine increased progressively from 3 to 6 months of age in MFS ascending aortas of males, whereas contractions in females were unchanged. Endothelium-dependent relaxation was unaltered in the MFS ascending aorta of either sex; an effect related to augmented endothelium-dependent hyperpolarization-type dilations. In MFS males, the non-selective cyclooxygenase (COX) inhibitor indomethacin prevented the MFS-induced enhancement of phenylephrine contractions linked to increased COX-2 expression. In MFS mice of both sexes, the non-selective nitric oxide synthase inhibitor L-NAME revealed negative feedback of nitric oxide on phenylephrine contractions, which was associated with upregulation of eNOS in females. Finally, MFS

  5. Differences in the Thoracic Aorta by Region and Sex in a Murine Model of Marfan Syndrome

    Directory of Open Access Journals (Sweden)

    Francesc Jiménez-Altayó

    2017-11-01

    Full Text Available Marfan syndrome (MFS is a hereditary disorder of the connective tissue that causes life-threatening aortic aneurysm, which initiates at the aortic root and can progress into the ascending portion. However, analysis of ascending aorta reactivity in animal models of MFS has remained elusive. Epidemiologic evidence suggests that although MFS is equally prevalent in men and women, men are at a higher risk of aortic complications than non-pregnant women. Nevertheless, there is no experimental evidence to support this hypothesis. The aim of this study was to explore whether there are regional and sex differences in the thoracic aorta function of mice heterozygous for the fibrillin 1 (Fbn1 allele encoding a missense mutation (Fbn1C1039G/+, the most common class of mutation in MFS. Ascending and descending thoracic aorta reactivity was evaluated by wire myography. Ascending aorta mRNA and protein levels, and elastic fiber integrity were assessed by qRT-PCR, Western blotting, and Verhoeff-Van Gieson histological staining, respectively. MFS differently altered reactivity in the ascending and descending thoracic aorta by either increasing or decreasing phenylephrine contractions, respectively. When mice were separated by sex, contractions to phenylephrine increased progressively from 3 to 6 months of age in MFS ascending aortas of males, whereas contractions in females were unchanged. Endothelium-dependent relaxation was unaltered in the MFS ascending aorta of either sex; an effect related to augmented endothelium-dependent hyperpolarization-type dilations. In MFS males, the non-selective cyclooxygenase (COX inhibitor indomethacin prevented the MFS-induced enhancement of phenylephrine contractions linked to increased COX-2 expression. In MFS mice of both sexes, the non-selective nitric oxide synthase inhibitor L-NAME revealed negative feedback of nitric oxide on phenylephrine contractions, which was associated with upregulation of eNOS in females. Finally

  6. Differences in the Thoracic Aorta by Region and Sex in a Murine Model of Marfan Syndrome

    Science.gov (United States)

    Jiménez-Altayó, Francesc; Siegert, Anna-Maria; Bonorino, Fabio; Meirelles, Thayna; Barberà, Laura; Dantas, Ana P.; Vila, Elisabet; Egea, Gustavo

    2017-01-01

    Marfan syndrome (MFS) is a hereditary disorder of the connective tissue that causes life-threatening aortic aneurysm, which initiates at the aortic root and can progress into the ascending portion. However, analysis of ascending aorta reactivity in animal models of MFS has remained elusive. Epidemiologic evidence suggests that although MFS is equally prevalent in men and women, men are at a higher risk of aortic complications than non-pregnant women. Nevertheless, there is no experimental evidence to support this hypothesis. The aim of this study was to explore whether there are regional and sex differences in the thoracic aorta function of mice heterozygous for the fibrillin 1 (Fbn1) allele encoding a missense mutation (Fbn1C1039G/+), the most common class of mutation in MFS. Ascending and descending thoracic aorta reactivity was evaluated by wire myography. Ascending aorta mRNA and protein levels, and elastic fiber integrity were assessed by qRT-PCR, Western blotting, and Verhoeff-Van Gieson histological staining, respectively. MFS differently altered reactivity in the ascending and descending thoracic aorta by either increasing or decreasing phenylephrine contractions, respectively. When mice were separated by sex, contractions to phenylephrine increased progressively from 3 to 6 months of age in MFS ascending aortas of males, whereas contractions in females were unchanged. Endothelium-dependent relaxation was unaltered in the MFS ascending aorta of either sex; an effect related to augmented endothelium-dependent hyperpolarization-type dilations. In MFS males, the non-selective cyclooxygenase (COX) inhibitor indomethacin prevented the MFS-induced enhancement of phenylephrine contractions linked to increased COX-2 expression. In MFS mice of both sexes, the non-selective nitric oxide synthase inhibitor L-NAME revealed negative feedback of nitric oxide on phenylephrine contractions, which was associated with upregulation of eNOS in females. Finally, MFS ascending

  7. Molecular dissection of a contiguous gene syndrome: Frequent submicroscopic deletions, evolutionarily conserved sequences, and a hypomethylated island in the Miller-Dieker chromosome region

    International Nuclear Information System (INIS)

    Ledbetter, D.H.; Ledbetter, S.A.; vanTuinen, P.

    1989-01-01

    The Miller-Dieker syndrome (MDS), composed of characteristic facial abnormalities and a severe neuronal migration disorder affecting the cerebral cortex, is caused by visible or submicroscopic deletions of chromosome band 17p13. Twelve anonymous DNA markers were tested against a panel of somatic cell hybrids containing 17p deletions from seven MDS patients. All patients, including three with normal karyotypes, are deleted for a variable set of 5-12 markers. Two highly polymorphic VNTR (variable number of tandem repeats) probes, YNZ22 and YNH37, are codeleted in all patients tested and make molecular diagnosis for this disorder feasible. By pulsed-field gel electrophoresis, YNZ22 and YNH37 were shown to be within 30 kilobases (kb) of each other. Cosmid clones containing both VNTR sequences were identified, and restriction mapping showed them to be 100 kb were completely deleted in all patients, providing a minimum estimate of the size of the MDS critical region. A hypomethylated island and evolutionarily conserved sequences were identified within this 100-kb region, indications of the presence of one or more expressed sequences potentially involved in the pathophysiology of this disorder. The conserved sequences were mapped to mouse chromosome 11 by using mouse-rat somatic cell hybrids, extending the remarkable homology between human chromosome 17 and mouse chromosome 11 by 30 centimorgans, into the 17p telomere region

  8. Otodental syndrome

    Directory of Open Access Journals (Sweden)

    Bloch-Zupan Agnès

    2006-03-01

    Full Text Available Abstract The otodental syndrome also named otodental dysplasia, is characterised by a striking dental phenotype known as globodontia, associated with sensorineural high frequency hearing loss and eye coloboma. Globodontia occurs in both primary and permanent dentition, affecting canine and molar teeth (i.e. enlarged bulbous malformed posterior teeth with almost no discernable cusps or grooves. The condition appears to be inherited in an autosomal dominant mode, although sporadic cases have been reported. It is a rare disease, a few families have been described in the literature. In the British family, the locus for oculo-oto-dental syndrome was mapped to 20q13.1 within a 12-cM critical chromosomal region. Dental management is complex, interdisciplinary and will include regular follow up, scheduled teeth extraction and orthodontic treatment. Hearing checks and, if necessary, hearing aids are mandatory, as well as eye examination and ad hoc treatment if necessary.

  9. Prenatal diagnosis of chromosome 15 abnormalities in the Prader-Willi/Angelman syndrome region by traditional and molecular cytogenetics

    Energy Technology Data Exchange (ETDEWEB)

    Toth-Fejel, S.; Magenis, R.E.; Leff, S. [Oregon Health Sciences Univ., Portland, OR (United States)] [and others

    1995-02-13

    With improvements in culturing and banding techniques, amniotic fluid studies now achieve a level of resolution at which the Prader-Willi syndrome (PWS) and Angelman syndrome (AS) region may be questioned. Chromosome 15 heteromorphisms, detected with Q- and R-banding and used in conjunction with PWS/AS region-specific probes, can confirm a chromosome deletion and establish origin to predict the clinical outcome. We report four de novo cases of an abnormal-appearing chromosome 15 in amniotic fluid samples referred for advanced maternal age or a history of a previous chromosomally abnormal child. The chromosomes were characterized using G-, Q-, and R-banding, as well as isotopic and fluorescent in situ hybridization of DNA probes specific for the proximal chromosome 15 long arm. In two cases, one chromosome 15 homolog showed a consistent deletion of the ONCOR PWS/AS region A and B. In the other two cases, one of which involved an inversion with one breakpoint in the PWS/AS region, all of the proximal chromosome 15 long arm DNA probes used in the in situ hybridization were present on both homologs. Clinical follow-up was not available on these samples, as in all cases the parents chose to terminate the pregnancies. These cases demonstrate the ability to prenatally diagnose chromosome 15 abnormalities associated with PWS/AS. In addition, they highlight the need for a better understanding of this region for accurate prenatal diagnosis. 41 refs., 5 figs.

  10. Botulinum toxin A (Botox) for treatment of proximal myofascial pain in complex regional pain syndrome: two cases.

    Science.gov (United States)

    Safarpour, Delaram; Jabbari, Bahman

    2010-09-01

    To describe development of myofascial pain syndrome (MFPS) with trigger points in the proximal muscles of the patients with complex regional pain syndrome (CRPS1) and improvement of distal symptoms of CRPS 1 after successful treatment of proximal MFPS. In our practice, we frequently encounter patients in whom a proximal myofascial pain syndrome develops ipsilateral to the distal limb of CRPS1 patients. We describe two such patients in detail with their treatment. PATIENT 1: A 48-year-old woman experienced severe allodynia, swelling and autonomic changes in the right hand after surgery for carpal tunnel syndrome. Over the succeeding months, she developed painful trigger points in the right trapezius and upper back muscles which was treated with administration of botulinum toxin A (BoNT-A) into the trigger points (20 unit/point). PATIENT 2: A 41-year-old woman following a traumatic forearm injury suffered from CRPS1 affecting the left hand and forearm. Proximal MFPS gradually developed on the same side over 12 months and was treated with administration of BoNT-A into the trapezius, splenius capitis, and rhomboid muscle trigger points. In both patients treatment with BoNT-A improved the proximal pain of MFPS and the distal symptoms of CRPS1. proximal MFPS develops ipsilateral to the distal painful limb in patients with CRPS1. Administration of BoNT-A into the affected proximal muscles may alleviate both MFPS and the distal allodynia, discoloration and, tissue swelling of CRPS. Wiley Periodicals, Inc.

  11. Critical and direct involvement of the CD23 stalk region in IgE binding.

    Science.gov (United States)

    Selb, Regina; Eckl-Dorna, Julia; Twaroch, Teresa E; Lupinek, Christian; Teufelberger, Andrea; Hofer, Gerhard; Focke-Tejkl, Margarete; Gepp, Barbara; Linhart, Birgit; Breiteneder, Heimo; Ellinger, Adolf; Keller, Walter; Roux, Kenneth H; Valenta, Rudolf; Niederberger, Verena

    2017-01-01

    The low-affinity receptor for IgE, FcεRII (CD23), contributes to allergic inflammation through allergen presentation to T cells, regulation of IgE responses, and enhancement of transepithelial allergen migration. We sought to investigate the interaction between CD23, chimeric monoclonal human IgE, and the corresponding birch pollen allergen Bet v 1 at a molecular level. We expressed 4 CD23 variants. One variant comprised the full extracellular portion of CD23, including the stalk and head domain; 1 variant was identical with the first, except for an amino acid exchange in the stalk region abolishing the N-linked glycosylation site; and 2 variants represented the head domain, 1 complete and 1 truncated. The 4 CD23 variants were purified as monomeric and structurally folded proteins, as demonstrated by gel filtration and circular dichroism. By using a human IgE mAb, the corresponding allergen Bet v 1, and a panel of antibodies specific for peptides spanning the CD23 surface, both binding and inhibition assays and negative stain electron microscopy were performed. A hitherto unknown IgE-binding site was mapped on the stalk region of CD23, and the non-N-glycosylated monomeric version of CD23 was superior in IgE binding compared with glycosylated CD23. Furthermore, we demonstrated that a therapeutic anti-IgE antibody, omalizumab, which inhibits IgE binding to FcεRI, also inhibited IgE binding to CD23. Our results provide a new model for the CD23-IgE interaction. We show that the stalk region of CD23 is crucially involved in IgE binding and that the interaction can be blocked by the therapeutic anti-IgE antibody omalizumab. Copyright © 2016 The Authors. Published by Elsevier Inc. All rights reserved.

  12. Critical molecular regions for elicitation of the sweetness of the sweet-tasting protein, thaumatin I.

    Science.gov (United States)

    Ohta, Keisuke; Masuda, Tetsuya; Ide, Nobuyuki; Kitabatake, Naofumi

    2008-07-01

    Thaumatin is an intensely sweet-tasting protein. To identify the critical amino acid residue(s) responsible for elicitation of the sweetness of thaumatin, we prepared mutant thaumatin proteins, using Pichia pastoris, in which alanine residues were substituted for lysine or arginine residues, and the sweetness of each mutant protein was evaluated by sensory analysis in humans. Four lysine residues (K49, K67, K106 and K163) and three arginine residues (R76, R79 and R82) played significant roles in thaumatin sweetness. Of these residues, K67 and R82 were particularly important for eliciting the sweetness. We also prepared two further mutant thaumatin I proteins: one in which an arginine residue was substituted for a lysine residue, R82K, and one in which a lysine residue was substituted for an arginine residue, K67R. The threshold value for sweetness was higher for R82K than for thaumatin I, indicating that not only the positive charge but also the structure of the side chain of the arginine residue at position 82 influences the sweetness of thaumatin, whereas only the positive charge of the K67 side chain affects sweetness.

  13. Regional implementation of newborn screening for critical congenital heart disease screening in Abu Dhabi.

    Science.gov (United States)

    Al Mazrouei, Shereena K; Moore, Jennifer; Ahmed, Faiza; Mikula, Elizabeth Bradshaw; Martin, Gerard R

    2013-08-01

    Congenital heart disease (CHD) is the most common birth defect and affects approximately 8 out of every 1,000 infants born each year. Despite antenatal screening and at least one examination before discharge infants with critical CHD (CCHD) are routinely not detected before discharge from the newborn nursery. Newborn screening for CCHD using pulse oximetry is widely endorsed however until recent efforts, CCHD screening programs had only been implemented at the individual hospital level. The purpose of this paper is to describe the implementation of CCHD screening across the entire Emirate of Abu Dhabi. The Health Authority-Abu Dhabi (HAAD), in collaboration with Children's National Medical Center (Children's National), successfully implemented CCHD screening at the emirate level using a "train-the-trainer," two-tiered approach, starting with two pilot hospitals then rolling the program out to all birthing facilities. In the first year, CCHD screening was added as a mandatory test to the HAAD Newborn Screening Standard, has been implemented in most birthing facilities, and occurs for the majority of infants (86 %) in Abu Dhabi. This led to the identification of ten newborns with CCHD. Based on the successful identification and mitigation of barriers to implementation, the approach may be adapted for similar programs in other populations.

  14. Chromosomal microarray testing identifies a 4p terminal region associated with seizures in Wolf–Hirschhorn syndrome

    Science.gov (United States)

    South, Sarah T; Lortz, Amanda; Hensel, Charles H; Sdano, Mallory R; Vanzo, Rena J; Martin, Megan M; Peiffer, Andreas; Lambert, Christophe G; Calhoun, Amy; Carey, John C; Battaglia, Agatino

    2016-01-01

    Background Wolf–Hirschhorn syndrome (WHS) is a contiguous gene deletion syndrome involving variable size deletions of the 4p16.3 region. Seizures are frequently, but not always, associated with WHS. We hypothesised that the size and location of the deleted region may correlate with seizure presentation. Methods Using chromosomal microarray analysis, we finely mapped the breakpoints of copy number variants (CNVs) in 48 individuals with WHS. Seizure phenotype data were collected through parent-reported answers to a comprehensive questionnaire and supplemented with available medical records. Results We observed a significant correlation between the presence of an interstitial 4p deletion and lack of a seizure phenotype (Fisher's exact test p=3.59e-6). In our cohort, there were five individuals with interstitial deletions with a distal breakpoint at least 751 kbp proximal to the 4p terminus. Four of these individuals have never had an observable seizure, and the fifth individual had a single febrile seizure at the age of 1.5 years. All other individuals in our cohort whose deletions encompass the terminal 751 kbp region report having seizures typical of WHS. Additional examples from the literature corroborate these observations and further refine the candidate seizure susceptibility region to a region 197 kbp in size, starting 368 kbp from the terminus of chromosome 4. Conclusions We identify a small terminal region of chromosome 4p that represents a seizure susceptibility region. Deletion of this region in the context of WHS is sufficient for seizure occurrence. PMID:26747863

  15. Chromosomal microarray testing identifies a 4p terminal region associated with seizures in Wolf-Hirschhorn syndrome.

    Science.gov (United States)

    Ho, Karen S; South, Sarah T; Lortz, Amanda; Hensel, Charles H; Sdano, Mallory R; Vanzo, Rena J; Martin, Megan M; Peiffer, Andreas; Lambert, Christophe G; Calhoun, Amy; Carey, John C; Battaglia, Agatino

    2016-04-01

    Wolf-Hirschhorn syndrome (WHS) is a contiguous gene deletion syndrome involving variable size deletions of the 4p16.3 region. Seizures are frequently, but not always, associated with WHS. We hypothesised that the size and location of the deleted region may correlate with seizure presentation. Using chromosomal microarray analysis, we finely mapped the breakpoints of copy number variants (CNVs) in 48 individuals with WHS. Seizure phenotype data were collected through parent-reported answers to a comprehensive questionnaire and supplemented with available medical records. We observed a significant correlation between the presence of an interstitial 4p deletion and lack of a seizure phenotype (Fisher's exact test p=3.59e-6). In our cohort, there were five individuals with interstitial deletions with a distal breakpoint at least 751 kbp proximal to the 4p terminus. Four of these individuals have never had an observable seizure, and the fifth individual had a single febrile seizure at the age of 1.5 years. All other individuals in our cohort whose deletions encompass the terminal 751 kbp region report having seizures typical of WHS. Additional examples from the literature corroborate these observations and further refine the candidate seizure susceptibility region to a region 197 kbp in size, starting 368 kbp from the terminus of chromosome 4. We identify a small terminal region of chromosome 4p that represents a seizure susceptibility region. Deletion of this region in the context of WHS is sufficient for seizure occurrence. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/

  16. Prevalence of Obesity and Metabolic Syndrome in Adult Population of Selected Regions of the Czech Republic. Relation to Eating Habits and Smoking

    Directory of Open Access Journals (Sweden)

    Michala Vosátková

    2012-01-01

    Full Text Available Prevalence of the metabolic syndrome is around 25% in Europe but its occurrence grows in both genders with increasing age and weight. Lifestyle factors may contribute to the risk of developing metabolic syndrome. The objective of this study was to determine the relationship between metabolic syndrome and eating habits as well as length of sleep and smoking. Participants (519 women and 286 men aged 18–65 years were chosen by random selection and questioned about their eating habits, sleep length and smoking. This information was combined with anthropometric and clinical parameters of metabolic syndrome. The female group was divided into two subgroups depending on climacteric stage (before and after menopause. Metabolic syndrome prevalence does not differ between regions in neither female (29.9% nor male (32.5% group. Body mass index ≥25 was detected in 50.4% of all women and 65.7% of men; 23.5% of all women and 21.7% men had body mass index ≥30. In conclusion, metabolic syndrome prevalence was proved to depend on eating habits and family heredity. Positive correlation between the above mentioned factors demonstrated itself in the total sample but not in individual regions. Metabolic syndrome prevalence in Czech adults is comparable with neighbouring countries. No significant interregional differences in metabolic syndrome prevalence within the Czech Republic were detected. In conclusion, relationship between eating habits and metabolic syndrome was confirmed.

  17. Prevalence of obesity and metabolic syndrome in adult population of selected regions of the Czech Republic. Relation to eating habits and smoking.

    Science.gov (United States)

    Vosátková, M; Ceřovská, J; Zamrazilová, H; Hoskovcová, P; Dvořáková, M; Zamrazil, V

    2012-01-01

    Prevalence of the metabolic syndrome is around 25% in Europe but its occurrence grows in both genders with increasing age and weight. Lifestyle factors may contribute to the risk of developing metabolic syndrome. The objective of this study was to determine the relationship between metabolic syndrome and eating habits as well as length of sleep and smoking. Participants (519 women and 286 men aged 18-65 years) were chosen by random selection and questioned about their eating habits, sleep length and smoking. This information was combined with anthropometric and clinical parameters of metabolic syndrome. The female group was divided into two subgroups depending on climacteric stage (before and after menopause). Metabolic syndrome prevalence does not differ between regions in neither female (29.9%) nor male (32.5%) group. Body mass index ≥25 was detected in 50.4% of all women and 65.7% of men; 23.5% of all women and 21.7% men had body mass index ≥30. In conclusion, metabolic syndrome prevalence was proved to depend on eating habits and family heredity. Positive correlation between the above mentioned factors demonstrated itself in the total sample but not in individual regions. Metabolic syndrome prevalence in Czech adults is comparable with neighbouring countries. No significant interregional differences in metabolic syndrome prevalence within the Czech Republic were detected. In conclusion, relationship between eating habits and metabolic syndrome was confirmed.

  18. Two families with isolated cat cry without the cri-du-chat syndrome phenotype have an inherited 5p15.3 deletion: Delineation of the larynx malformation region

    Energy Technology Data Exchange (ETDEWEB)

    Gersh, M.; Overhauser, J. [Thomas Jefferson Univ., Philadelphia, PA (United States); Pasztor, L.M. [Children`s Mercy Hospital, Kansas City, MO (United States)] [and others

    1994-09-01

    The cri-du-chat syndrome is a contiguous gene syndrome that results from a deletion of the short arm of chromosome 5 (5p). Patients present with a cat-like cry at birth that is usually considered diagnostic of this syndrome. Additional features of the syndrome include failure to thrive, microcephaly, hypertelorism, epicanthal folds, hypotonia, and severe mental retardation. We report on two families in which the patients with 5p deletions have only the characteristic cat-like cry with normal to mildly delayed development. One family has three children with varying levels of developmental delay and a deletion of 5p15.3 that was inherited from the father. The second family has a mother and daughter both presenting with a cat-like cry and normal intelligence. A de novo deletion in a patient with isolated cat cry and mild developmental delay was also identified. The precise locations of the deletions in each family were determined by fluorescent in situ hybridization using lambda phage, cosmids, and YAC clones. Cryptic translocations and mosaicism were not detected in the parents transmitting the deletion. All of the deletion breakpoints map distal to the previously defined cri-du-chat critical region. A YAC contig has been constructed for the chromosomal region implicated in the larynx malformation. DNA clones mapping in this region will be useful diagnostic tools for delineating 5p deletions that result in the typical features of cri-du-chat syndrome with deletions that result in the isolated cat-like cry feature which is associated with a better prognosis.

  19. Complex Regional Pain Syndrome Caused by Lumbar Herniated Intervertebral Disc Disease.

    Science.gov (United States)

    Kim, Se Hee; Choi, Sang Sik; Lee, Mi Kyung; Kin, Jung Eun

    2016-07-01

    Most cases of complex regional pain syndrome (CRPS) occur after some inciting injury. There are a few cases of CRPS after an operation for disc disease. CRPS from a mild herniated intervertebral disc (HIVD) without surgical intervention is even rarer than CRPS after an operation for disc disease.A 22-year-old man was transferred to a pain clinic. He had continuously complained about back and right leg pain. He presented with a skin color change in the right lower leg, intermittent resting tremor, stiffness, and swelling in the right leg. He complained of a pulling sensation and numbness in his right buttock, posterior thigh, lateral calf, and ankle. This symptom was in accordance with L4/5 radiculopathy. Magnetic resonance imaging (MRI) also showed L4/5 HIVD that was central to the bilateral subarticular protrusion.He was diagnosed as having CRPS, which fits the revised International Association for the Study of Pain (IASP) criteria. He fulfilled 4 symptom categories (allodynia, temperature asymmetry and skin color change, sweating changes, decreased range of motion and motor dysfunction) and 3 of 4 sign categories (allodynia, temperature asymmetry and skin color changes, decreased range of motion and motor dysfunction). The bone scan and thermography also revealed CRPS.For the past 2 months, we have performed intensive treatments. But, he never became pain-free and walking for 5 minutes led to persistent leg pain. We decided to perform percutaneous nucleoplasty, which can directly decompress a HIVD. On the next day, he achieved dramatic symptom relief. The visual analog scale (VAS) score improved to 3, compared to the VAS score of 9 at the first visit. The skin color change, allodynia, and tremor in the right leg disappeared, and the temperature asymmetry normalized. Motor weakness of the right leg also recovered.We report an unusual case of CRPS that was caused by L4/5 HIVD without a history of trauma or surgery. It has a clear causal relationship between HIVD

  20. Hand lesion after arthroscopic rotator cuff repair: Association with complex regional pain syndrome.

    Science.gov (United States)

    Tanesue, Ryo; Gotoh, Masafumi; Mitsui, Yasuhiro; Nakamura, Hidehiro; Honda, Hirokazu; Ohzono, Hiroki; Shimokobe, Hisao; Tokunaga, Tsuyoshi; Imai, Takaki; Okawa, Takahiro; Shiba, Naoto

    2018-01-01

    It is known that complex regional pain syndrome (CRPS) occurs after arthroscopic rotator cuff repair (ARCR); however, few studies have investigated this complication. Therefore, the purpose of the present study was to evaluate CRPS after ARCR. A total of 182 patients who underwent ARCR were enrolled in this study. The average age of patients was 62.8 ± 10.0 years, with an average follow-up period of 21.5 ± 38.1 months. CRPS criteria outlined by the Ministry of Health, Labor, and Welfare study team for CRPS in Japan (MHLWJ) and International Association for the Study of Pain (IASP 2005) were utilized for diagnosis. There are two rating systems for the "clinical purpose" and "research purpose" in both criteria, respectively. Clinical outcomes, including Japanese Orthopedic Association (JOA) and University of California, Los Angeles scores, were evaluated using univariate and multivariate analysis. CRPS exclusively occurred in the hand of the operated limb, developing within 3 months of surgery. Two or more of the following symptoms were noted in patients with the hand lesion associated with CRPS: edema (93.4%), restricted range of motion (83.4%), hyperalgesia (30.1%), paridrosis (20.4%), and atrophic change (12.2%). Under these conditions, the incidences of CRPS were 24.2% (44/182) when evaluated by the MHLWJ rating system for the "clinical purpose;" 11% (22/182) by the MHLWJ rating system for the "research purpose;" 6% (11/182) by the IASP 2005 for the "clinical purpose;" and 0.5% (1/182) by the IASP 2005 for the "research purpose." Results of multivariate analysis demonstrated that "Function" in the JOA score was a risk factor for the development of CRPS after ARCR, when evaluated by a system for the "clinical purpose" of the MHLWJ. Following ARCR, CRPS-induced hand lesions occur more frequently than is generally believed, thereby suggesting that its impact on surgical outcomes should be clarified in the future. Copyright © 2017 The Japanese Orthopaedic

  1. Geochemical characterization of critical dust source regions in the American West

    Science.gov (United States)

    Aarons, Sarah M.; Blakowski, Molly A.; Aciego, Sarah M.; Stevenson, Emily I.; Sims, Kenneth W. W.; Scott, Sean R.; Aarons, Charles

    2017-10-01

    The generation, transport, and deposition of mineral dust are detectable in paleoclimate records from land, ocean, and ice, providing valuable insight into earth surface conditions and cycles on a range of timescales. Dust deposited in marine and terrestrial ecosystems can provide critical nutrients to nutrient-limited ecosystems, and variations in dust provenance can indicate changes in dust production, sources and transport pathways as a function of climate variability and land use change. Thus, temporal changes in locations of dust source areas and transport pathways have implications for understanding interactions between mineral dust, global climate, and biogeochemical cycles. This work characterizes dust from areas in the American West known for dust events and/or affected by increasing human settlement and livestock grazing during the last 150 years. Dust generation and uplift from these dust source areas depends on climate and land use practices, and the relative contribution of dust has likely changed since the expansion of industrialization and agriculture into the western United States. We present elemental and isotopic analysis of 28 potential dust source area samples analyzed using Thermal Ionization Mass Spectrometry (TIMS) for 87Sr/86Sr and 143Nd/144Nd composition and Multi-Collector Inductively Coupled Plasma Mass Spectrometer (MC-ICPMS) for 176Hf/177Hf composition, and ICPMS for major and trace element concentrations. We find significant variability in the Sr, Nd, and Hf isotope compositions of potential source areas of dust throughout western North America, ranging from 87Sr/86Sr = 0.703699 to 0.740236, εNd = -26.6 to 2.4, and εHf = -21.7 to -0.1. We also report differences in the trace metal and phosphorus concentrations in the geologic provinces sampled. This research provides an important resource for the geochemical tracing of dust sources and sinks in western North America, and will aid in modeling the biogeochemical impacts of increased

  2. Critical role of dendritic cells in T cell retention in the interfollicular region of Peyer's patches.

    Science.gov (United States)

    Obata, Takashi; Shibata, Naoko; Goto, Yoshiyuki; Ishikawa, Izumi; Sato, Shintaro; Kunisawa, Jun; Kiyono, Hiroshi

    2013-07-15

    Peyer's patches (PPs) simultaneously initiate active and quiescent immune responses in the gut. The immunological function is achieved by the rigid regulation of cell distribution and trafficking, but how the cell distribution is maintained remains to be elucidated. In this study, we show that binding of stromal cell-derived lymphoid chemokines to conventional dendritic cells (cDCs) is essential for the retention of naive CD4(+) T cells in the interfollicular region (IFR) of PPs. Transitory depletion of CD11c(high) cDCs in mice rapidly impaired the IFR structure in the PPs without affecting B cell follicles or germinal centers, lymphoid chemokine production from stromal cells, or the immigration of naive T cells into the IFRs of PPs. The cDC-orchestrated retention of naive T cells was mediated by heparinase-sensitive molecules that were expressed on cDCs and bound the lymphoid chemokine CCL21 produced from stromal cells. These data collectively reveal that interactions among cDCs, stromal cells, and naive T cells are necessary for the formation of IFRs in the PPs.

  3. Priority persistent contaminants in people dwelling in critical areas of Campania Region, Italy (SEBIOREC biomonitoring study)

    International Nuclear Information System (INIS)

    De Felip, Elena; Bianchi, Fabrizio; Bove, Crescenzo; Cori, Liliana; D'Argenzio, Angelo; D'Orsi, Giancarlo; Fusco, Mario; Miniero, Roberto; Ortolani, Rosanna; Palombino, Raffaele; Parlato, Antonino; Pelliccia, Maria Grazia; Peluso, Filomena; Piscopo, Giovanni; Pizzuti, Renato; Porpora, Maria Grazia; Protano, Domenico; Senofonte, Oreste

    2014-01-01

    To investigate if protracted living in degraded environments of the Caserta and Naples provinces (Campania Region, Italy) had an impact on exposure of local people, highly toxic persistent contaminants were measured in blood, blood serum, and human milk of a large number of healthy donors. Sampling was carried out from 2008 to 2009. Blood was collected from over 850 20–64-year old donors; by pooling, 84 blood and 84 serum samples were obtained. Milk was donated by 52 mothers: specimens were pooled into six samples. Polychlorodibenzodioxins (PCDDs), polychlorodibenzofurans (PCDFs), and polychlorobiphenyls (PCBs, dioxin-like (DL) and non-dioxin-like (Σ 6 PCBs)), arsenic (As), cadmium (Cd), mercury (Hg), and lead (Pb) were measured in serum (organic biomarkers) and blood (metals); these chemicals and polybromobiphenyl ethers (Σ 9 PBDEs) were analyzed in milk. PCDD + PCDF, DL-PCB, TEQ TOT , and Σ 6 PCB concentration ranges (medians) in serum were 6.26–23.1 (12.4), 3.42–31.7 (11.5), 10.0–52.8 (23.9) pgTEQ 97 /g fat, and 55.5–647 (219) ng/g fat, respectively, while in milk concentration ranges were 5.99–8.77, 4.02–6.15, 10.0–14.2 pgTEQ 97 /g fat, and 48.7–74.2 ng/g fat. Likewise, As, Cd, Hg, and Pb findings in blood spanned 2.34–13.4 (5.83), 0.180–0.930 (0.475), 1.09–7.60 (2.60), 10.2–55.9 (28.8) μg/L, respectively; only Pb could be measured in milk (2.78–5.99 μg/L). Σ 9 PBDE levels in milk samples were 0.965–6.05 ng/g fat. Biomarkers' concentrations were found to be compatible with their current values in European countries and in Italy, and consistent with an exposure primarily determined by consumption of commercial food from the large distribution system. Based on relatively higher biomarker values within the hematic biomonitoring database, the following municipalities were flagged as possibly deserving attention for health-oriented interventions: Brusciano and Caivano (As), Giugliano (Hg), Pianura (PCDDs + PCDFs), and Qualiano

  4. Priority persistent contaminants in people dwelling in critical areas of Campania Region, Italy (SEBIOREC biomonitoring study)

    Energy Technology Data Exchange (ETDEWEB)

    De Felip, Elena, E-mail: defelip@iss.it [Istituto Superiore di Sanità, Dipartimento Ambiente e connessa Prevenzione Primaria, Rome (Italy); Bianchi, Fabrizio [Consiglio Nazionale delle Ricerche, Istituto di Fisiologia Clinica, Pisa and Rome (Italy); Bove, Crescenzo [ASL CE, Servizio di Epidemiologia e Prevenzione, Caserta (Italy); Cori, Liliana [Consiglio Nazionale delle Ricerche, Istituto di Fisiologia Clinica, Pisa and Rome (Italy); D' Argenzio, Angelo [ASL CE, Servizio di Epidemiologia e Prevenzione, Caserta (Italy); D' Orsi, Giancarlo [ASL NA2 Nord, Servizio di Epidemiologia e Prevenzione, Naples (Italy); Fusco, Mario [Registro Tumori della Regione Campania, ASL NA3 Sud, Naples (Italy); Miniero, Roberto [Istituto Superiore di Sanità, Dipartimento Ambiente e connessa Prevenzione Primaria, Rome (Italy); Ortolani, Rosanna [ASL NA1 Centro, Servizio di Epidemiologia e Prevenzione, Naples (Italy); Palombino, Raffaele [ASL NA3 Sud, Servizio di Epidemiologia e Prevenzione, Distretto Sanitario 69, Naples (Italy); Parlato, Antonino; Pelliccia, Maria Grazia; Peluso, Filomena [ASL NA2 Nord, Servizio di Epidemiologia e Prevenzione, Naples (Italy); Piscopo, Giovanni [ASL NA3 Sud, Servizio di Epidemiologia e Prevenzione, Distretto Sanitario 69, Naples (Italy); Pizzuti, Renato [Regione Campania, Assessorato alla Sanità, Osservatorio Epidemiologico, Naples (Italy); Porpora, Maria Grazia [Dipartimento di Ginecologia e Ostetricia, Dipartimento di Scienze Ginecologiche, Perinatologia, e Puericultura, Policlinico Umberto I, Università “Sapienza”, Rome (Italy); Protano, Domenico [ASL CE, Servizio di Epidemiologia e Prevenzione, Caserta (Italy); Senofonte, Oreste [Istituto Superiore di Sanità, Dipartimento Ambiente e connessa Prevenzione Primaria, Rome (Italy); and others

    2014-07-01

    To investigate if protracted living in degraded environments of the Caserta and Naples provinces (Campania Region, Italy) had an impact on exposure of local people, highly toxic persistent contaminants were measured in blood, blood serum, and human milk of a large number of healthy donors. Sampling was carried out from 2008 to 2009. Blood was collected from over 850 20–64-year old donors; by pooling, 84 blood and 84 serum samples were obtained. Milk was donated by 52 mothers: specimens were pooled into six samples. Polychlorodibenzodioxins (PCDDs), polychlorodibenzofurans (PCDFs), and polychlorobiphenyls (PCBs, dioxin-like (DL) and non-dioxin-like (Σ{sub 6}PCBs)), arsenic (As), cadmium (Cd), mercury (Hg), and lead (Pb) were measured in serum (organic biomarkers) and blood (metals); these chemicals and polybromobiphenyl ethers (Σ{sub 9}PBDEs) were analyzed in milk. PCDD + PCDF, DL-PCB, TEQ{sub TOT}, and Σ{sub 6}PCB concentration ranges (medians) in serum were 6.26–23.1 (12.4), 3.42–31.7 (11.5), 10.0–52.8 (23.9) pgTEQ{sub 97}/g fat, and 55.5–647 (219) ng/g fat, respectively, while in milk concentration ranges were 5.99–8.77, 4.02–6.15, 10.0–14.2 pgTEQ{sub 97}/g fat, and 48.7–74.2 ng/g fat. Likewise, As, Cd, Hg, and Pb findings in blood spanned 2.34–13.4 (5.83), 0.180–0.930 (0.475), 1.09–7.60 (2.60), 10.2–55.9 (28.8) μg/L, respectively; only Pb could be measured in milk (2.78–5.99 μg/L). Σ{sub 9}PBDE levels in milk samples were 0.965–6.05 ng/g fat. Biomarkers' concentrations were found to be compatible with their current values in European countries and in Italy, and consistent with an exposure primarily determined by consumption of commercial food from the large distribution system. Based on relatively higher biomarker values within the hematic biomonitoring database, the following municipalities were flagged as possibly deserving attention for health-oriented interventions: Brusciano and Caivano (As), Giugliano (Hg), Pianura

  5. Construction of a YAC contig and STS map spanning at least 10 cM in 1q41, the critical region of Usher II gene

    Energy Technology Data Exchange (ETDEWEB)

    Wang, J.Y.; Zhen, D.K.; Li, B.F. [Univ. of Nebraska, Omaha, NE (United States)] [and others

    1994-09-01

    Usher syndrome is an autosomal recessive disorder causing congenital hearing loss, progressive retinitis pigmentosa and vestibular dysfunction. The Usher syndrome is both clinically and genetically heterogeneous. At least three genetic types of Usher syndrome are know to exist. The Usher II (USH2) syndrome has originally been linked to 1q41 between D1S70 and D1S81. more recently its location was refined and placed between D1S217 and D1S229. We have constructed a YAC contig containing 23 clones and a minimum of 10 Mbp of human DNA. A total of three NotI linking clones, fourteen polymorphic microsatelite markers, eight YAC end clones and twenty lambda and cosmid subclones have been used to order the YACs and assess their integrity. The YAC subclones were used to reassess the location of the USH2 gene. Seven CpG islands have already been identified in the region. Several potential exons have been identified by exon amplification in the cosmid subclones. This map of overlapping clones, the set of densely spaced physical markers and potential exons will promote our understanding of the 1q1 region, its associated genes and eventually the gene mutated in Usher syndrome type II.

  6. A high-resolution linkage map of the achondroplasia critical region on human chromosome 4q16.3

    Energy Technology Data Exchange (ETDEWEB)

    Tiller, G.E.; Polumbo, P.A. [Vanderbilt Univ. School of Medicine, Nashville, TN (United States)

    1994-09-01

    Achondroplasia is the most common nonlethal skeletal dysplasia, with an incidence of greater than 1/40,000 births. Recently, a random search of the genome using highly polymorphic autosomal markers has localized the gene for achondroplasia to the distal portion of human chromosome 4p. We report here the construction of a high-resolution linkage map of the critical region including the achondroplasia locus. The CEPH panel of pedigrees was genotyped at several loci using highly polymorphic markers, including the Huntington locus (IT15), D4S43, D4S115, and the gene for the {beta}-subunit of rod cGMP phosphodiesterase (PDEB). These data were incorporated into the CEPH v.6.6 database and a multipoint map was generated using the LINKAGE programs v.5.1. Based on reported recombination events in achondroplasia pedigrees, the gene for achondroplasia lies distal to the anonymous marker D4S43, in the 8 cM region defined as follows: cen-IT15-D4S43-D4S98-[D4S115-D4S111]-D4S90-PDEB. The disparity between the genetic distance and the physical distance (2 mB) among these markers likely reflects the high rate of recombination within the region. Extension of this linkage map further toward the telomere and identification of distal recombinant markers should expedite efforts directed toward isolation of the gene for achondroplasia.

  7. Aging rather than aneuploidy affects monoamine neurotransmitters in brain regions of Down syndrome mouse models

    NARCIS (Netherlands)

    Dekker, Alain D; Vermeiren, Yannick; Albac, Christelle; Lana-Elola, Eva; Watson-Scales, Sheona; Gibbins, Dorota; Aerts, Tony; Van Dam, Debby; Fisher, Elizabeth M C; Tybulewicz, Victor L J; Potier, Marie-Claude; De Deyn, Peter P

    Altered concentrations of monoamine neurotransmitters and metabolites have been repeatedly found in people with Down syndrome (DS, trisomy 21). Because of the limited availability of human post-mortem tissue, DS mouse models are of great interest to study these changes and the underlying

  8. Effects of Mirror Therapy in Stroke Patients With Complex Regional Pain Syndrome Type 1: A Randomized Controlled Study.

    Science.gov (United States)

    Pervane Vural, Secil; Nakipoglu Yuzer, Guldal Funda; Sezgin Ozcan, Didem; Demir Ozbudak, Sibel; Ozgirgin, Nese

    2016-04-01

    To investigate the effects of mirror therapy on upper limb motor functions, spasticity, and pain intensity in patients with hemiplegia accompanied by complex regional pain syndrome type 1. Randomized controlled trial. Training and research hospital. Adult patients with first-time stroke and simultaneous complex regional pain syndrome type 1 of the upper extremity at the dystrophic stage (N=30). Both groups received a patient-specific conventional stroke rehabilitation program for 4 weeks, 5 d/wk, for 2 to 4 h/d. The mirror therapy group received an additional mirror therapy program for 30 min/d. We evaluated the scores of the Brunnstrom recovery stages of the arm and hand for motor recovery, wrist and hand subsections of the Fugl-Meyer Assessment (FMA) and motor items of the FIM-motor for functional status, Modified Ashworth Scale (MAS) for spasticity, and visual analog scale (VAS) for pain severity. After 4 weeks of rehabilitation, both groups had significant improvements in the FIM-motor and VAS scores compared with baseline scores. However, the scores improved more in the mirror therapy group than the control group (P<.001 and P=.03, respectively). Besides, the patients in the mirror therapy arm showed significant improvement in the Brunnstrom recovery stages and FMA scores (P<.05). No significant difference was found for MAS scores. In patients with stroke and simultaneous complex regional pain syndrome type 1, addition of mirror therapy to a conventional stroke rehabilitation program provides more improvement in motor functions of the upper limb and pain perception than conventional therapy without mirror therapy. Copyright © 2016 American Congress of Rehabilitation Medicine. Published by Elsevier Inc. All rights reserved.

  9. Descriptive analysis and spatial epidemiology of porcine reproductive and respiratory syndrome (PRRS) for swine sites participating in area regional control and elimination programs from 3 regions of Ontario.

    Science.gov (United States)

    Arruda, Andreia G; Poljak, Zvonimir; Friendship, Robert; Carpenter, Jane; Hand, Karen

    2015-10-01

    The objectives of this study were to describe demographics, basic biosecurity practices, ownership structure, and prevalence of porcine reproductive and respiratory syndrome (PRRS) in swine sites located in 3 regions in Ontario, and investigate the presence of spatial clustering and clusters of PRRS positive sites in the 3 regions. A total of 370 swine sites were enrolled in Area Regional Control and Elimination projects in Niagara, Watford, and Perth from 2010 to 2013. Demographics, biosecurity, and site ownership data were collected using a standardized questionnaire and site locations were obtained from an industry organization. Status was assigned on the basis of available diagnostic tests and/or assessment by site veterinarians. Spatial dependence was investigated using the D-function, the spatial scan statistic test and the spatial relative risk method. Results showed that the use of strict all-in all-out (AIAO) pig flow and shower before entry are uncommon biosecurity practices in swine sites, but a larger proportion of sites reported having a Danish entry. The prevalence of PRRS in the 3 regions ranged from 17% to 48% and localized high and low risk clusters were detected. Sites enrolled in the PRRS control projects were characterized by membership in multiple and overlapping ownership structures and networks, which complicates the way the results of monitoring and disease management measures are communicated to the target population.

  10. The human homologue of the Drosophila melanogaster flightless-I gene (fliI) maps within the Smith-Magenis microdeletion critical region in 17p11.2

    Energy Technology Data Exchange (ETDEWEB)

    Chen, K.S.; Nguyen, D.; Greenberg, F. [Baylor College of Medicing, Houston, TX (United States)] [and others

    1994-09-01

    The Smith-Magenis syndrome (SMS) appears to be a contiguous gene deletion syndrome associated with a proximal deletion of the short arm of chromosome 17 in band p11.2. The spectrum of clinical findings includes short stature, brachydactyly, developmental delay, dysmorphic features, sleep disturbances and behavioral problems. The complex phenotypic features suggest deletion of several contiguous genes. However, to date no protein encoding gene has been mapped to the SMS critical region. Recently, Campbell described the cloning and characterization of D. melanogaster fli cDNAs and of homologous cDNAs from caenorhabditis elegans and from humans. Mutations in fliI result in loss of flight ability and, when severe, cause lethality due to incomplete cellularization with subsequent abnormal gastrulation. The amino acid sequence deduced from the FLI cDNA has 52% similarity to the human gelsolin protein and also has a N-terminal leucine-rich domain with 16 consecutive leucine-rich repeats (LRR). Here, we demonstrate that the human homologue (FLI) maps within the SMS critical region. Genomic cosmids were used as probes for fluorescence in situ hybridization (FISH) and localized this gene to the 17p11.2 region. Somatic cell hybrids and/or FISH analysis of lymphoblastoid cell lines form 12 SMS patients demonstrate that one copy of the FLI gene is deleted in all SMS patients analyzed with the common deletion. Further studies are required to determine if haploinsufficiency of FLI or other as yet unidentified genes is important for the expression of the SMS phenotype.

  11. Prediction of fluid phase equilibrium of ternary mixtures in the critical region and the modified Leung-Griffiths theory

    Science.gov (United States)

    Lynch, John J.; Rainwater, James C.; van Poolen, Lambert J.; Smith, Duane H.

    1992-02-01

    The modified Leung-Griffiths theory of vapor-liquid equilibrium (VLE) is generalized to the case of three components. The principle of 'corresponding states' is reconsidered along with certain functions of 'field variables' within the model. The mathematical form of the coexistence boundary in terms of the field variables remains practically unchanged and conforms to modern scaling theory. The new model essentially predicts ternary fluid mixture phase boundaries in the critical region from previous vapor-liquid equilibrium data correlations of the three binary fluid mixture limits. Predicted saturation isotherms of the ethane + n-butane + n-pentane and ethane + n-butane + n-heptane mixtures are compared with experimental ternary VLE data in the literature.

  12. Equivalent dose, effective dose and risk assessment from panoramic radiography to the critical organs of head and neck region

    International Nuclear Information System (INIS)

    Cho, Bong Hae; Nah, Kyung Soo; Lee, Ae Ryeon

    1995-01-01

    The purpose of this study was to evaluate the equivalent and effective dose, and estimate radiation risk to the critical organs of head and neck region from the use of adult and child mode in panoramic radiography. The results were as follows. 1. The salivary glands showed the highest equivalent and effective dose in adult and child mode. The equivalent and effective dose in adult mode were 837 μSv and 20.93 μSv, those in child mode were 462 μSv and 11.54 μSv, respectively. 2. Total effective doses to the critical head and neck organs were estimated 34.2l μSv in adult mode, 20.14 μSv in child mode. From these data, the probabilities of stochastic effect from adult and child mode were 2.50xl0 -6 and 1.47x10 -6 3. The other remainder showed the greatest risk of fatal cancer. The risk estimate were 4.5 and 2.7 fatal malignancies in adult and child mode from million examinations. The bone marrow and thyroid gland showed about 0.1 fatal cancer in adult. and child mode from these examinations.

  13. Equivalent dose, effective dose and risk assessment from panoramic radiography to the critical organs of head and neck region

    Energy Technology Data Exchange (ETDEWEB)

    Cho, Bong Hae; Nah, Kyung Soo [Dept. of Dental Radiology, College of Dentistry, Pusan National University, Pusan (Korea, Republic of); Lee, Ae Ryeon [Dept. of Pediatric Dentistry, College of Dentistry, Pusan National University, Pusan (Korea, Republic of)

    1995-08-15

    The purpose of this study was to evaluate the equivalent and effective dose, and estimate radiation risk to the critical organs of head and neck region from the use of adult and child mode in panoramic radiography. The results were as follows. 1. The salivary glands showed the highest equivalent and effective dose in adult and child mode. The equivalent and effective dose in adult mode were 837 {mu}Sv and 20.93 {mu}Sv, those in child mode were 462 {mu}Sv and 11.54 {mu}Sv, respectively. 2. Total effective doses to the critical head and neck organs were estimated 34.2l {mu}Sv in adult mode, 20.14 {mu}Sv in child mode. From these data, the probabilities of stochastic effect from adult and child mode were 2.50xl0{sup -6} and 1.47x10{sup -6} 3. The other remainder showed the greatest risk of fatal cancer. The risk estimate were 4.5 and 2.7 fatal malignancies in adult and child mode from million examinations. The bone marrow and thyroid gland showed about 0.1 fatal cancer in adult. and child mode from these examinations.

  14. A Critical Examination of the Use of Trained Health Coaches to Decrease the Metabolic Syndrome for Participants of a Community-Based Diabetes Prevention and Management Program.

    Science.gov (United States)

    Lucke-Wold, Brandon; Shawley, Samantha; Ingels, John Spencer; Stewart, Jonathan; Misra, Ranjita

    2016-01-01

    The epidemic of obesity and diabetes in the United States poses major challenge to the prevention and management of chronic diseases. Furthermore, when this is viewed in other components of the metabolic syndrome (i.e., the burden of high cholesterol and hypertension), the prevalence of the metabolic syndrome continues to rise in the USA continued challenge is how to deal with this epidemic from a medical and public health standpoint. Community Based Participatory Research (CBPR) is a unique approach and offers a novel perspective for answering this challenge. A critical set of goals for CBPR is to address health disparities and social inequalities while getting community members engaged in all aspects of the research process. Utilizing the West Virginia Diabetes Prevention and Management Program and trained Health Coaches as a model, we discuss topics of consideration related to CBPR, involving trained health coaches, optimizing early adoption of healthy lifestyle behaviors, and enhancing participation. Through careful project planning and design, questions regarding disparities increasing susceptibility and preventive efforts within the community can be addressed successfully. These topics are part of a broader integration of theories such as participatory research, community engagement, and outcomes measurement. The understanding of the pathophysiology and epidemiology of the metabolic syndrome can help frame an appropriate strategy for establishing long-term community-wide changes that promote health. In order to continue to improve investigations for preventing the metabolic syndrome, it will be necessary to have aggressive efforts at the individual and population level for developing culturally sensitive programs that start early and are sustainable in practical environments such as the workplace. In this comprehensive review, we will discuss practical considerations related to project design, implementation, and how to measure effectiveness in regards to

  15. Optic ataxia: from Balint’s syndrome to the parietal reach region

    Science.gov (United States)

    Andersen, Richard A.; Andersen, Kristen N.; Hwang, EunJung; Hauschild, Markus

    2014-01-01

    Optic ataxia is a high order deficit in reaching to visual goals that occurs with posterior parietal cortex (PPC) lesions. It is a component of Balint’s syndrome that also includes attentional and gaze disorders. Aspects of optic ataxia are misreaching in the contralesional visual field, difficulty preshaping the hand for grasping, and an inability to correct reaches online. Recent research in non-human primates (NHPs) suggests that many aspects of Balint’s syndrome and optic ataxia are a result of damage to specific functional modules for reaching, saccades, grasp, attention, and state estimation. The deficits from large lesions in humans are likely composite effects from damage to combinations of these functional modules. Interactions between these modules, either within posterior parietal cortex or downstream within frontal cortex, may account for more complex behaviors such as hand-eye coordination and reach-to-grasp. PMID:24607223

  16. Acute vestibular syndrome: a critical review and diagnostic algorithm concerning the clinical differentiation of peripheral versus central aetiologies in the emergency department.

    Science.gov (United States)

    Venhovens, J; Meulstee, J; Verhagen, W I M

    2016-11-01

    Almost 20 % of cerebral ischaemic strokes occur in the posterior circulation. Estimates are that 20 % of these patients present with isolated vertigo. In approximately one-sixth to one-third of these patients, this symptom is wrongly diagnosed to be peripheral vestibular in origin. As a result, these missed stroke patients are withheld from therapeutic and secondary prophylactic treatment, which may result in unnecessary morbidity and mortality. We therefore propose a diagnostic algorithm concerning the clinical differentiation of acute vestibular syndrome (AVS) patients based on a critical review of the available literature.

  17. Equivalence of chain conformations in the surface region of a polymer melt and a single Gaussian chain under critical conditions.

    Science.gov (United States)

    Skvortsov, A M; Leermakers, F A M; Fleer, G J

    2013-08-07

    In the melt polymer conformations are nearly ideal according to Flory's ideality hypothesis. Silberberg generalized this statement for chains in the interfacial region. We check the Silberberg argument by analyzing the conformations of a probe chain end-grafted at a solid surface in a sea of floating free chains of concentration φ by the self-consistent field (SCF) method. Apart from the grafting, probe chain and floating chains are identical. Most of the results were obtained for a standard SCF model with freely jointed chains on a six-choice lattice, where immediate step reversals are allowed. A few data were generated for a five-choice lattice, where such step reversals are forbidden. These coarse-grained models describe the equilibrium properties of flexible atactic polymer chains at the scale of the segment length. The concentration was varied over the whole range from φ = 0 (single grafted chain) to φ = 1 (probe chain in the melt). The number of contacts with the surface, average height of the free end and its dispersion, average loop and train length, tail size distribution, end-point and overall segment distributions were calculated for a grafted probe chain as a function of φ, for several chain lengths and substrate∕polymer interactions, which were varied from strong repulsion to strong adsorption. The computations show that the conformations of the probe chain in the melt do not depend on substrate∕polymer interactions and are very similar to the conformations of a single end-grafted chain under critical conditions, and can thus be described analytically. When the substrate∕polymer interaction is fixed at the value corresponding to critical conditions, all equilibrium properties of a probe chain are independent of φ, over the whole range from a dilute solution to the melt. We believe that the conformations of all flexible chains in the surface region of the melt are close to those of an appropriate single chain in critical conditions, provided

  18. Isolation of a Genomic Region Affecting Most Components of Metabolic Syndrome in a Chromosome-16 Congenic Rat Model.

    Directory of Open Access Journals (Sweden)

    Lucie Šedová

    Full Text Available Metabolic syndrome is a highly prevalent human disease with substantial genomic and environmental components. Previous studies indicate the presence of significant genetic determinants of several features of metabolic syndrome on rat chromosome 16 (RNO16 and the syntenic regions of human genome. We derived the SHR.BN16 congenic strain by introgression of a limited RNO16 region from the Brown Norway congenic strain (BN-Lx into the genomic background of the spontaneously hypertensive rat (SHR strain. We compared the morphometric, metabolic, and hemodynamic profiles of adult male SHR and SHR.BN16 rats. We also compared in silico the DNA sequences for the differential segment in the BN-Lx and SHR parental strains. SHR.BN16 congenic rats had significantly lower weight, decreased concentrations of total triglycerides and cholesterol, and improved glucose tolerance compared with SHR rats. The concentrations of insulin, free fatty acids, and adiponectin were comparable between the two strains. SHR.BN16 rats had significantly lower systolic (18-28 mmHg difference and diastolic (10-15 mmHg difference blood pressure throughout the experiment (repeated-measures ANOVA, P < 0.001. The differential segment spans approximately 22 Mb of the telomeric part of the short arm of RNO16. The in silico analyses revealed over 1200 DNA variants between the BN-Lx and SHR genomes in the SHR.BN16 differential segment, 44 of which lead to missense mutations, and only eight of which (in Asb14, Il17rd, Itih1, Syt15, Ercc6, RGD1564958, Tmem161a, and Gatad2a genes are predicted to be damaging to the protein product. Furthermore, a number of genes within the RNO16 differential segment associated with metabolic syndrome components in human studies showed polymorphisms between SHR and BN-Lx (including Lpl, Nrg3, Pbx4, Cilp2, and Stab1. Our novel congenic rat model demonstrates that a limited genomic region on RNO16 in the SHR significantly affects many of the features of metabolic

  19. Molecular characterization of two proximal deletion breakpoint regions in both Prader-Willi and Angelman syndrome patients

    Energy Technology Data Exchange (ETDEWEB)

    Christian, S.L.; Huang, B.; Ledbetter, D.H. [National Institutes of Health, Bethesda, MD (United States)] [and others

    1995-07-01

    Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are distinct mental retardation syndromes caused by paternal and maternal deficiencies, respectively, in chromosome 15q11{minus}q13. Approximately 70% of these patients have a large deletion of {approximately}4 Mb extending from D15S9 (ML34) through D15S12 (IR10A). To further characterize the deletion breakpoints proximal to D15S9, three new polymorphic microsatellite markers were developed that showed observed heterozygosities of 60%-87%. D15S541 and D15S542 were isolated for YAC A124A3 containing the D15S18 (IR39) locus. D15S543 was isolated from a cosmid cloned from the proximal right end of YAC 254B5 containing the D15S9 (ML34) locus. Gene-centromere mapping of these markers, using a panel of ovarian teratomas of known meiotic origin, extended the genetic map of chromosome 15 by 2-3 cM toward the centromere. Analysis of the more proximal S541/S542 markers on 53 Prader-Willi and 33 Angelman deletion patients indicated two classes of patients: 44% (35/80) of the informative patients were deleted for these markers (class I), while 56% (45/80) were not deleted (class II), with no difference between PWS and AS. In contrast, D15S543 was deleted in all informative patients (13/48) or showed the presence of a single allele (in 35/48 patients), suggesting that this marker is deleted in the majority of PWS and AS cases. These results confirm the presence of two common proximal deletion breakpoint regions in both Prader-Willi and Angelman syndromes and are consistent with the same deletion mechanism being responsible for paternal and maternal deletions. One breakpoint region lies between D15S541/S542 and D15S543, with an additional breakpoint region being proximal to D15S541/S542. 46 refs., 2 figs., 3 tabs.

  20. Complexity of the 5′ Untranslated Region of EIF4A3, a Critical Factor for Craniofacial and Neural Development

    Directory of Open Access Journals (Sweden)

    Gabriella S. P. Hsia

    2018-04-01

    Full Text Available Repeats in coding and non-coding regions have increasingly been associated with many human genetic disorders, such as Richieri-Costa-Pereira syndrome (RCPS. RCPS, mostly characterized by midline cleft mandible, Robin sequence and limb defects, is an autosomal-recessive acrofacial dysostosis mainly reported in Brazilian patients. This disorder is caused by decreased levels of EIF4A3, mostly due to an increased number of repeats at the EIF4A3 5′UTR. EIF4A3 5′UTR alleles are CG-rich and vary in size and organization of three types of motifs. An exclusive allelic pattern was identified among affected individuals, in which the CGCA-motif is the most prevalent, herein referred as “disease-associated CGCA-20nt motif.” The origin of the pathogenic alleles containing the disease-associated motif, as well as the functional effects of the 5′UTR motifs on EIF4A3 expression, to date, are entirely unknown. Here, we characterized 43 different EIF4A3 5′UTR alleles in a cohort of 380 unaffected individuals. We identified eight heterozygous unaffected individuals harboring the disease-associated CGCA-20nt motif and our haplotype analyses indicate that there are more than one haplotype associated with RCPS. The combined analysis of number, motif organization and haplotypic diversity, as well as the observation of two apparently distinct haplotypes associated with the disease-associated CGCA-20nt motif, suggest that the RCPS alleles might have arisen from independent unequal crossing-over events between ancient alleles at least twice. Moreover, we have shown that the number and sequence of motifs in the 5′UTR region is associated with EIF4A3 repression, which is not mediated by CpG methylation. In conclusion, this study has shown that the large number of repeats in EIF4A3 does not represent a dynamic mutation and RCPS can arise in any population harboring alleles with the CGCA-20nt motif. We also provided further evidence that EIF4A3 5′UTR is a

  1. Low numbers of repeat units in variable number of tandem repeats (VNTR) regions of white spot syndrome virus are correlated with disease outbreaks

    NARCIS (Netherlands)

    Tran Thi Tuyet, H.; Zwart, M.P.; Phuong, N.T.; Jong, de M.C.M.; Vlak, J.M.

    2012-01-01

    White spot syndrome virus (WSSV) is the most important pathogen in shrimp farming systems worldwide including the Mekong Delta, Vietnam. The genome of WSSV is characterized by the presence of two major 'indel regions' found at ORF14/15 and ORF23/24 (WSSV-Thailand) and three regions with variable

  2. Complex regional pain syndrome in an 8-year-old female with emotional stress during deployment of a family member.

    Science.gov (United States)

    Pearson, Ryan D; Bailey, Justin

    2011-08-01

    This pediatric case of complex regional pain syndrome (CRPS) illustrates the need to expand the typical age range and raise awareness of the psychological impact military deployment may have on its development. An emotional 8-year-old female, with a recently deployed father, presented with left foot pain. Over an 11-week-period, she developed symptoms, signs, and radiologic findings consistent with CRPS. Pediatric CRPS is characterized by ecchymosis, edema, allodynia, mottling, and abnormal hair growth in the region of pain after minor trauma. It occurs predominately in adolescent females, mainly affects the lower limbs, and is associated with psychological stressors. This patient with CRPS presents several years younger than what is commonly described in the literature in the stressful setting of a deployed parent. CRPS can occur in younger than expected age ranges of children who experience the unique emotional stressor of a deployed family member.

  3. Identification of a Major Dimorphic Region in the Functionally Critical N-Terminal ID1 Domain of VAR2CSA.

    Directory of Open Access Journals (Sweden)

    Justin Doritchamou

    Full Text Available The VAR2CSA protein of Plasmodium falciparum is transported to and expressed on the infected erythrocyte surface where it plays a key role in placental malaria (PM. It is the current leading candidate for a vaccine to prevent PM. However, the antigenic polymorphism integral to VAR2CSA poses a challenge for vaccine development. Based on detailed analysis of polymorphisms in the sequence of its ligand-binding N-terminal region, currently the main focus for vaccine development, we assessed var2csa from parasite isolates infecting pregnant women. The results reveal for the first time the presence of a major dimorphic region in the functionally critical N-terminal ID1 domain. Parasite isolates expressing VAR2CSA with particular motifs present within this domain are associated with gravidity- and parasite density-related effects. These observations are of particular interest in guiding efforts with respect to optimization of the VAR2CSA-based vaccines currently under development.

  4. A severe case of complex regional pain syndrome I (reflex sympathetic dystrophy) managed with spinal cord stimulation.

    Science.gov (United States)

    Canlas, Bernard; Drake, Thomas; Gabriel, Eric

    2010-01-01

    Complex regional pain syndrome is a condition that usually affects the upper or lower extremities. The cause is not clearly understood. We report a case of a severe form of a rapidly progressive complex regional pain syndrome type I developing after a right shoulder injury managed with spinal cord stimulation (SCS). After failed conservative treatments, a rechargeable SCS system was implanted in the cervical spine. Allodynia and dystonia improved but the patient subsequently developed similar symptoms in lower right extremity followed by her lower left extremity. The patient became wheelchair bound. A second rechargeable SCS with a paddle electrode was implanted for the lower extremity coverage. The patient's allodynia and skin lesions improved significantly. However, over time, her initial symptoms reappeared which included skin breakdown. Due to the need for frequent recharging, the system was removed. During explantation of the surgical paddle lead, it was noted by the neurosurgeon that the contacts of the paddle lead were detached from the lead. After successful implantation of another SCS system, the patient was able to reduce her medications and is now able to ambulate with the use of a left elbow crutch.

  5. TCOF1 gene encodes a putative nucleolar phosphoprotein that exhibits mutations in Treacher Collins Syndrome throughout its coding region

    Science.gov (United States)

    Wise, Carol A.; Chiang, Lydia C.; Paznekas, William A.; Sharma, Mridula; Musy, Maurice M.; Ashley, Jennifer A.; Lovett, Michael; Jabs, Ethylin W.

    1997-01-01

    Treacher Collins Syndrome (TCS) is the most common of the human mandibulofacial dysostosis disorders. Recently, a partial TCOF1 cDNA was identified and shown to contain mutations in TCS families. Here we present the entire exon/intron genomic structure and the complete coding sequence of TCOF1. TCOF1 encodes a low complexity protein of 1,411 amino acids, whose predicted protein structure reveals repeated motifs that mirror the organization of its exons. These motifs are shared with nucleolar trafficking proteins in other species and are predicted to be highly phosphorylated by casein kinase. Consistent with this, the full-length TCOF1 protein sequence also contains putative nuclear and nucleolar localization signals. Throughout the open reading frame, we detected an additional eight mutations in TCS families and several polymorphisms. We postulate that TCS results from defects in a nucleolar trafficking protein that is critically required during human craniofacial development. PMID:9096354

  6. TCOF1 gene encodes a putative nucleolar phosphoprotein that exhibits mutations in Treacher Collins Syndrome throughout its coding region.

    Science.gov (United States)

    Wise, C A; Chiang, L C; Paznekas, W A; Sharma, M; Musy, M M; Ashley, J A; Lovett, M; Jabs, E W

    1997-04-01

    Treacher Collins Syndrome (TCS) is the most common of the human mandibulofacial dysostosis disorders. Recently, a partial TCOF1 cDNA was identified and shown to contain mutations in TCS families. Here we present the entire exon/intron genomic structure and the complete coding sequence of TCOF1. TCOF1 encodes a low complexity protein of 1,411 amino acids, whose predicted protein structure reveals repeated motifs that mirror the organization of its exons. These motifs are shared with nucleolar trafficking proteins in other species and are predicted to be highly phosphorylated by casein kinase. Consistent with this, the full-length TCOF1 protein sequence also contains putative nuclear and nucleolar localization signals. Throughout the open reading frame, we detected an additional eight mutations in TCS families and several polymorphisms. We postulate that TCS results from defects in a nucleolar trafficking protein that is critically required during human craniofacial development.

  7. "How Can a Chord Be Weird if It Expresses Your Soul?" Some Critical Reflections on the Diagnosis of Aspergers Syndrome

    Science.gov (United States)

    Moloney, Paul

    2010-01-01

    This paper questions the way in which the diagnosis of Aspergers syndrome has come to be widely accepted and used as an essentially medical category. It does so by drawing upon sociological and historical analyses of society, psychiatry and psychology, as well as the writings of service users, other practitioners in the autistic spectrum disorder…

  8. Regional ventilation/perfusion mismatch pattern in patient with Swyer James (MacLeod′s syndrome

    Directory of Open Access Journals (Sweden)

    Sait Sager

    2014-01-01

    Full Text Available Swyer James (McLeod′s syndrome (SJMS is an uncommon disease, which occurs as a result of childhood bronchiolitis obliterans. Patients may not be diagnosed until later in their life. A 46-year-old man underwent ventilation/perfusion scintigraphy for acute onset of dyspnea. The scan showed markedly diminished ventilation and perfusion unilaterally on the right middle and inferior lobes. However, mismatched ventilation-perfusion pattern was shown on the upper right lobe, which was consistent with pulmonary embolism. Unilaterally matched ventilation/perfusion defect can see in SJMS in lung scintigraphy; however, when pulmoner embolism may accompany, scintigraphy should be carefully examined.

  9. The phase transition of the first order in the critical region of the gas-liquid system

    Directory of Open Access Journals (Sweden)

    I.R. Yukhnovskii

    2014-12-01

    Full Text Available This is a summarising investigation of the events of the phase transition of the first order that occur in the critical region below the liquid-gas critical point. The grand partition function has been completely integrated in the phase-space of the collective variables. The basic density measure is the quartic one. It has the form of the exponent function with the first, second, third and fourth degree of the collective variables. The problem has been reduced to the Ising model in an external field, the role of which is played by the generalised chemical potential μ*. The line μ*(η =0, where η is the density, is the line of the phase transition. We consider the isothermal compression of the gas till the point where the phase transition on the line μ*(η =0 is reached. When the path of the pressing reaches the line μ* =0 in the gas medium, a droplet of liquid springs up. The work for its formation is obtained, the surface-tension energy is calculated. On the line μ* =0 we have a two-phase system: the gas and the liquid (the droplet one. The equality of the gas and of the liquid chemical potentials is proved. The process of pressing is going on. But the pressure inside the system has stopped, two fixed densities have arisen: one for the gas-phase ηG=ηc(1-d/2 and the other for the liquid-phase ηL=ηc(1+d/2 (symmetrically to the rectlinear diameter, where ηc=0.13044 is the critical density. Starting from that moment the external pressure works as a latent work of pressure. Its value is obtained. As a result, the gas-phase disappears and the whole system turns into liquid. The jump of the density is equal to ηc d, where d=(D/2G1/2 ~ τν/2. D and G are coefficients of the Hamiltonian in the last cell connected with the renormalisation-group symmetry. The equation of state is written.

  10. [Pediatric complex regional pain syndrome affecting an upper limb: 7 cases and a brief review of the literature].

    Science.gov (United States)

    Cebrián, J; Sánchez, P

    2009-03-01

    To review the clinical, psychiatric, and social characteristics of complex regional pain syndrome in children and adolescents treated in the last 4 years at our pediatric pain clinic. We analyzed the specialty of the initial treating physician, age, sex, initial diagnosis, pain intensity, degree of disability, fear of movement, clinical stage, history of trauma, time between onset and diagnosis, psychiatric illness, family support and behavior, chronic pain in near relatives, school grades and attendance, treatment given at the pediatric pain clinic, recurrences, and course of disease. The cases of 7 patients (4 female, 3 male) between the ages of 8 and 15 years were analyzed. Four had been referred by the child psychiatry department. The initial diagnosis was erroneous in all but 1 case. Pain intensity and associated disability were severe in 5 patients and 4 expressed intense fear of moving the limb. Five patients had initial stage I disease, 5 had a history of trauma, and 5 had been previously treated by immobilization of the limb and prescription of nonsteroidal anti-inflammatory drugs. The time between onset and diagnosis ranged from 2 to 18 months (mean [SD], 6.4 [3.5] months). In most cases psychiatric disease and concomitant social disability were present. Treatment prescribed at the pediatric pain clinic consisted of a combination of oral medication, psychologic and psychiatric counseling, and intensive physiotherapy for all but 2 children, who required regional nerve blocks. The clinical course was satisfactory for all but 1 patient, who developed severe disability. Complex regional pain syndrome affecting an upper limb is uncommon in children but not rare.

  11. CAGE-defined promoter regions of the genes implicated in Rett Syndrome

    DEFF Research Database (Denmark)

    Vitezic, Morana; Bertin, Nicolas; Andersson, Robin

    2014-01-01

    with respect to expression levels and regulatory regions. Here we analyzed data from hundreds of mouse and human samples included in the FANTOM5 project, to identify transcript initiation sites, expression levels, expression correlations and regulatory regions of the three genes RESULTS: Our investigations...

  12. Intravenous regional block is similar to sympathetic ganglion block for pain management in patients with complex regional pain syndrome type I

    Directory of Open Access Journals (Sweden)

    M.S.A. Nascimento

    2010-12-01

    Full Text Available Sympathetic ganglion block (SGB or intravenous regional block (IVRB has been recommended for pain management in patients with complex regional pain syndrome type I (CRPS-I. Forty-five patients were initially selected but only 43 were accepted for the study. The present study evaluated the efficacy of IVRB produced by combining 70 mg lidocaine with 30 µg clonidine (14 patients, 1 male/13 females, age range: 27-50 years versus SGB produced by the injection of 70 mg lidocaine alone (14 patients, 1 male/13 females, age range: 27-54 years or combined with 30 µg clonidine (15 patients, 1 male/14 females, age range: 25-50 years into the stellate ganglion for pain management in patients with upper extremity CRPS-I. Each procedure was repeated five times at 7-day intervals, and pain intensity and duration were measured using a visual analog scale immediately before each procedure. A progressive and significant reduction in pain scores and a significant increase in the duration of analgesia were observed in all groups following the first three blocks, but no further improvement was obtained following the last two blocks. Drowsiness, the most frequent side effect, and dry mouth occurred only in patients submitted to SGB with lidocaine combined with clonidine. The three methods were similar regarding changes in pain intensity and duration of analgesia. However, IVRB seems to be preferable to SGB due to its easier execution and lower risk of undesirable effects.

  13. Induced Pib Expression and Resistance to Magnaporthe grisea are Compromised by Cytosine Demethylation at Critical Promoter Regions in Rice.

    Science.gov (United States)

    Li, Yuan; Xia, Qiong; Kou, Hongping; Wang, Dan; Lin, Xiuyun; Wu, Ying; Xu, Chunming; Xing, Shaochen; Liu, Bao

    2011-10-01

    Pib is a well-characterized rice blast-resistance gene belonging to the nucleotide binding site (NBS) and leucine-rich repeat (LRR) superfamily. Expression of Pib was low under non-challenged conditions, but strongly induced by the blast-causing fungal pathogen Magnaporthe grisea, thereby conferring resistance to the pathogen. It is generally established that cytosine methylation of the promoter-region often plays a repressive role in modulating expression of the gene in question. We report here that two critical regions of the Pib promoter were heavily CG cytosine-methylated in both cultivars studied. Surprisingly, induced expression of Pib by M. grisea infection did not entail its promoter demethylation, and partial demethylation by 5-azacytidine-treatment actually reduced Pib expression relative to wild-type plants. Accordingly, the blast disease-resistance was compromised in the 5'-azaC-treated plants relative to wild-type. In contrast, the disease susceptibility was not affected by the 5'-azaC treatment in another two rice cultivars that did not contain the Pib gene, ruling out effects of other R genes and non-specific genotoxic effects by the drug-treatment as a cause for the compromised Pib-conditioned blast-resistance. Taken together, our results suggest that promoter DNA methylation plays a novel enhancing role in conditioning high-level of induced expression of the Pib gene in times of M. grisea infection, and its conferred resistance to the pathogen. © 2011 Institute of Botany, Chinese Academy of Sciences.

  14. Regional intratidal gas distribution in acute lung injury and acute respiratory distress syndrome assessed by electric impedance tomography.

    Science.gov (United States)

    Lowhagen, K; Lundin, S; Stenqvist, O

    2010-12-01

    Regional tidal volume distribution and end-expiratory lung volume (EELV) distribution in patients with acute lung injury and acute respiratory distress syndrome (ALI, ARDS) have previously been investigated using computed tomograpy and electric impedance tomography (EIT). In the present study, we utilized the high temporal resolution of EIT to assess intratidal gas distribution. Sixteen ventilator patients with ALI/ARDS were studied. EIT was used for analysis of intertidal, intratidal and EELV regional distribution. Intratidal regional gas distribution (ITV) was analyzed by dividing the regional tidal impedance signal into eight iso-volume parts. Alveolar pressure/volume curves during ongoing ventilation and volume-dependent compliance during the initial inspiration (Cini) were calculated. A low-pressure (~32 cm H2O) recruitment maneuver and a decremental PEEPtrial were implemented. The increase in EELV was preferentially distributed to non-dependent lung regions. The intratidal gas distribution pattern was similar to the tidal volume distribution following increased PEEP; non-dependent distribution decreased and dependent distribution increased during inspiration. Cini increased, indicating successful recruitment. The distribution varied widely among individual patients. In one patient with a low EELV, the ITV pattern showed that non-dependent distribution increased and dependent distribution decreased. This coincided with minimal improvement in volume-dependent compliance. This patient probably needed higher recruitment pressure. In one patient with a high baseline EELV, there was very little change in regional ITV, and non-dependent Cini decreased. This was probably a patient with low potential recruitability, who required only moderate PEEP. On-line intratidal gas distribution monitoring offers additional information on recruitability and optimal PEEP.

  15. Faulting in the Yucca Mountain region: Critical review and analyses of tectonic data from the central Basin and Range

    International Nuclear Information System (INIS)

    Ferrill, D.A.; Stirewalt, G.L.; Henderson, D.B.; Stamatakos, J.; Morris, A.P.; Spivey, K.H.; Wernicke, B.P.

    1996-03-01

    Yucca Mountain, Nevada, has been proposed as the potential site for a high-level waste (HLW) repository. The tectonic setting of Yucca Mountain presents several potential hazards for a proposed repository, such as potential for earthquake seismicity, fault disruption, basaltic volcanism, magma channeling along pre-existing faults, and faults and fractures that may serve as barriers or conduits for groundwater flow. Characterization of geologic structures and tectonic processes will be necessary to assess compliance with regulatory requirements for the proposed high level waste repository. In this report, we specifically investigate fault slip, seismicity, contemporary stain, and fault-slip potential in the Yucca Mountain region with regard to Key Technical Uncertainties outlined in the License Application Review Plan (Sections 3.2.1.5 through 3.2.1.9 and 3.2.2.8). These investigations center on (i) alternative methods of determining the slip history of the Bare Mountain Fault, (ii) cluster analysis of historic earthquakes, (iii) crustal strain determinations from Global Positioning System measurements, and (iv) three-dimensional slip-tendency analysis. The goal of this work is to assess uncertainties associated with neotectonic data sets critical to the Nuclear Regulatory Commission and the Center for Nuclear Waste Regulatory Analyses' ability to provide prelicensing guidance and perform license application review with respect to the proposed HLW repository at Yucca Mountain

  16. Nance-Horan syndrome: localization within the region Xp21.1-Xp22.3 by linkage analysis.

    Science.gov (United States)

    Stambolian, D; Lewis, R A; Buetow, K; Bond, A; Nussbaum, R

    1990-07-01

    Nance-Horan Syndrome (NHS) or X-linked cataract-dental syndrome (MIM 302350) is a disease of unknown pathogenesis characterized by congenital cataracts and dental anomalies. We performed linkage analysis in three kindreds with NHS by using six RFLP markers between Xp11.3 and Xp22.3. Close linkage was found between NHS and polymorphic loci DXS43 (theta = 0 with lod score 2.89), DXS41 (theta = 0 with lod score 3.44), and DXS67 (theta = 0 with lod score 2.74), defined by probes pD2, p99-6, and pB24, respectively. Recombinations were found with the marker loci DXS84 (theta = .04 with lod score 4.13), DXS143 (theta = .06 with lod score 3.11) and DXS7 (theta = .09 with lod score 1.68). Multipoint linkage analysis determined the NHS locus to be linked completely to DXS41 (lod score = 7.07). Our linkage results, combined with analysis of Xp interstitial deletions, suggest that the NHS locus is located within or close to the Xp22.1-Xp22.2 region.

  17. Hemolytic uremic syndrome (HUS)--incidence and etiologies at a regional Children's Hospital in 2001-2006.

    Science.gov (United States)

    Pomajzl, R J; Varman, M; Holst, A; Chen, A

    2009-12-01

    Hemolytic uremic syndrome (HUS) is a serious health concern in children. HUS has primarily been linked to Escherichia coli O157:H7 infections, but non-O157 strains are gaining attention. Hemolytic anemia, thrombocytopenia, and acute renal failure are the characteristics of the syndrome. This study investigated the incidence of HUS at a regional Children's Hospital between 2001 and 2006 by retrospective review. Cases of HUS were investigated for outcomes based on stool culture and an association of acute pancreatitis. A total of 44 cases were identified, of which 57% were female and 43% were male, with an age distribution of 13 months to 17 years and a median age of 3.44 years. Data revealed 13 cases in 2006 compared to two cases in 2001, with 84% of all illnesses occurring in the summer and fall seasons. The median duration of thrombocytopenia was eight days and 50% of all cases required dialysis. E. coli O157:H7 was the predominant pathogen; however, 53% of the cases had unknown etiology. This data may suggest a growing number of cases from 2001 to 2006 and a role for agents other than E. coli O157:H7. E. coli O157:H7 caused longer intensive care unit (ICU) stay. No association between HUS and acute pancreatitis was found.

  18. Complex regional pain syndrome and dysautonomia in a 14-year-old girl responsive to therapeutic plasma exchange.

    Science.gov (United States)

    Hendrickson, Jeanne E; Hendrickson, Emma T; Gehrie, Eric A; Sidhu, Davinder; Wallukat, Gerd; Schimke, Ingolf; Tormey, Christopher A

    2016-08-01

    Reflex sympathetic dystrophy, also known as complex regional pain syndrome (CRPS), has recently been shown to be associated with autoantibodies against β2-adrenergic and muscarinic M2 receptors. In addition to pain and sudomotor/vasomotor symptoms, dysautonomia is also observed in a subset of CRPS patients. Despite its severity, there are few effective therapies for CRPS described to date. We report a case of a 14-year-old girl with CRPS of her right leg and dysautonomia (gastroparesis, postural tachycardia) refractory to multiple therapies, successfully treated with therapeutic plasma exchange (TPE) with albumin replacement. The patient, who has serum anti β2-adrenergic and muscarinic M2 receptor autoantibodies in addition to nicotinic acetylcholine receptor ganglionic autoantibodies, underwent an initial course of five TPEs over a 2-week period. She demonstrated a clinical response to TPE as manifested by a rapid improvement in her fatigue and gastroparesis, with a gradual yet significant improvement in her leg pain and sudomotor/vasomotor flares. Following the loading procedures, the patient was treated with rituximab. She continues to require periodic TPE to maintain a remission, with additional immunosuppression being considered long term. Although further studies are needed, TPE (in combination with immunosuppression) may be an appropriate therapy for CRPS patients with detectable autoantibodies, as it is for better characterized diseases with autoantibodies against neuronal surface receptors such as myasthenia gravis or Lambert Eaton myasthenic syndrome. J. Clin. Apheresis 31:368-374, 2016. © 2015 Wiley Periodicals, Inc. © 2015 Wiley Periodicals, Inc.

  19. Clinical insights on Tolosa Hunt syndrome: A multidisciplinary approach on neurological-related symptomatology in maxillofacial region

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    Zafar Ali Khan

    2018-02-01

    Full Text Available Background Tolosa–Hunt syndrome (THS related neurological symptoms are described in literature as “unilateral”, “recurrent”, “episodic”, “intense”, “severe”, “lancinating” or “stabbing” pain on the upper face and forehead and may be misdiagnosed due to the similarity of few symptoms and a significant number of common characteristics between both conditions. Aims The aim of this brief report is to indicate some important clinical insights related to Tolosa Hunt syndrome, and to give a frank account on the multidisciplinary approach on neurological-related symptomatology in maxillofacial region. Methods We analysed a selection of patients with such clinical picture. To better describe the proper management of clinical cases, we report a 50-year-old female reporting an history of two years of recurrent, severe stabbing pain around the right eye, prominence of her cheek and forehead. Her general dentist first mistakenly diagnosed toothache and, thus, it was subsequently misdiagnosed the trigeminal neuropathy (TN. Results Reported exemplificative case presented a mild ptosis, diplopia of the right eye, corneal reflex loss, paresthesia and hyperesthesia of upper part of left side of face. Magnetic resonance imaging (MRI findings were suggestive of THS. Complete resolution of symptoms was achieved with oral Prednisolone and constant monitoring of symptoms. Conclusion THS may be added to the long list of differential diagnosis of TN and general dentist and oral surgeons should be informed about such rare causes of facial pain through continued medical education programs.

  20. Complex assessment of regional hemodynamics with tetrapolar rheography and laser Doppler fluometry in patients with low back pain syndrome

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    D. A. Shemetov

    2003-01-01

    Full Text Available Objective. To assess hemodynamic disturbances in pts with low back pain syndrome (LBPS. Material and methods. 57 pts with LBPS were examined (12 female and 45 male aged 18 to 53 years (mean age 36,7 years. Spine osteochondritis was diagnosed in most of them. 34 had subacute and 23 - chronic LBPS course. In 32 pts peripheral hemodinamic indices were examined with tetrapolar rheo- vasography by “ARM-RhEO" apparatus. In 25 pts total local blood flow was assessed in pain points with laser-Doppler fluometry (LDF-2 apparatus. 35 healthy individuals of comparable age and sex were included in control group. Results. 77% of pts showed small vessels tone decrease most prominent in pts with subacute LBPS course. Arterial wall elasticity diminution was revealed in 63% of cases, significant reduction of blood filling level - in 82%, venous flow-out obstacle - in 87%. There was a connection between degree of local blood flow increase in back pain points and (PI score: 0,19 V in pts with PI>60 u and 0,13 V in pts with PK40 u (in control group - 0,08 V, p<0,05 what shows perifocal edema in most painful points. Conclusion. Revealed regional hemodynamic and microcirculation disturbances can objectively confirm participation of hemodynamic disturbances in pain syndrome genesis and serve as a basis for perfection of LBPS treatment methods.

  1. Linkage analysis in a family with the Opitz GBBB syndrome refines the location of the gene in Xp22 to a 4 cM region

    Energy Technology Data Exchange (ETDEWEB)

    May, M.; Schwartz, C. [J.C. Self Research Inist., Greenwood, SC (United States); Huston, S.; Schwartz, C. [Clemson Univ., SC (United States)] [and others

    1997-01-20

    The Opitz GBBB syndrome (OS) is characterized in part by widely spaced inner ocular canthi and hypospadias. Recently, linkage analysis showed that the gene for the X-linked form to be located in an 18 cM region spanning Xp22. We have now conducted linkage analysis in a family previously published as having the BBB syndrome and found tight linkage to DXS7104 (Z = 3.3, {theta} = 0.0). Our data narrows the candidate region to 4 cM and should facilitate the identification and characterization of one of the genes involved in midline development. 21 refs., 1 fig., 1 tab.

  2. Comparisons of metabolic syndrome definitions in four populations of the Asia-Pacific region

    DEFF Research Database (Denmark)

    Lee, C.M.; Huxley, R.R.; Woodward, M.

    2008-01-01

    for EGIR. There were marked differences in the prevalence of MetS between the sexes, with no systematic pattern, and between the prevalences of individual metabolic components. CONCLUSIONS: Differences in the prevalence of MetS and its components, using the various definitions, both within and between......BACKGROUND: To compare the prevalence of metabolic syndrome (MetS) by four MetS definitions in four Asia-Pacific populations, and to compare the prevalence of individual metabolic components. METHODS: Population-based cross-sectional studies from Australia, Japan, Korea, and Samoa were used...... to assess the World Health Organization (WHO), European Group for the Study of Insulin Resistance (EGIR), modified National Cholesterol Education Program Adult Treatment Panel III (modATPIII), and International Diabetes Federation (IDF) MetS definitions. Age-adjusted MetS prevalences were compared within...

  3. Comparisons of metabolic syndrome definitions in four populations of the Asia-Pacific region

    DEFF Research Database (Denmark)

    Lee, C.M.; Huxley, R.R.; Woodward, M.

    2008-01-01

    to assess the World Health Organization (WHO), European Group for the Study of Insulin Resistance (EGIR), modified National Cholesterol Education Program Adult Treatment Panel III (modATPIII), and International Diabetes Federation (IDF) MetS definitions. Age-adjusted MetS prevalences were compared within......BACKGROUND: To compare the prevalence of metabolic syndrome (MetS) by four MetS definitions in four Asia-Pacific populations, and to compare the prevalence of individual metabolic components. METHODS: Population-based cross-sectional studies from Australia, Japan, Korea, and Samoa were used...... and between countries and kappa statistics were used to determine the agreement between IDF and the other three definitions. RESULTS: Japanese people had the lowest prevalence of MetS regardless of definition, and Samoans generally the highest prevalence. Age-adjusted prevalences for the four definitions...

  4. Prevalence and trends of metabolic syndrome among adults in the asia-pacific region: a systematic review

    Directory of Open Access Journals (Sweden)

    P. Ranasinghe

    2017-01-01

    Full Text Available Abstract Background The Asia-Pacific region is home to nearly half of the world’s population. The region has seen a recent rapid increase in the prevalence of obesity, type-2 diabetes and cardiovascular disease. The present systematic review summarizes the recent prevalence and trends of Metabolic Syndrome (MetS among adults in countries of the Asia-Pacific Region. Methods Data on MetS in Asia-Pacific countries were obtained using a stepwise process by searching the online Medline database using MeSH terms ‘Metabolic Syndrome X’ and ‘Epidemiology/EP’. For the purpose of describing prevalence data for the individual countries, studies that were most recent, nationally representative or with the largest sample size were included. When evaluating secular trends in prevalence in a country we only considered studies that evaluated the temporal change in prevalence between similar populations, prospective studies based on the same population or National surveys conducted during different time periods. Results This literature search yielded a total of 757 articles, and five additional article were identified by screening of reference lists. From this total, 18 studies were eligible to be included in the final analysis. Of the 51 Asia-Pacific countries (WHO we only located data for 15. There was wide between country variation in prevalence of MetS. A national survey from Philippines conducted in 2003 revealed the lowest reported prevalence of 11.9% according to NCEP ATP III criteria. In contrast, the highest recorded prevalence in the region (49.0% came from a study conducted in urban Pakistan (Karachchi, 2004. Most studies reported a higher prevalence of MetS in females and urban residents. Data on secular trends were available for China, South Korea and Taiwan. An increase in the prevalence of MetS was observed in all three countries. Conclusion Despite differences in methodology, diagnostic criteria and age of subjects studied, the Asia

  5. A new model approach for the near-critical point region: 1. Construction of the generalized van der Waals equation of state.

    Science.gov (United States)

    Lee, Sukbae; Jeon, Joonhyeon; Kim, Wonsoo; Chair, Tong-Seek

    2008-12-11

    To date, it has been considered that all classical equations of state (EOS) have failed to describe the properties of fluids near the critical region, where the density fluctuations have a significant influence on fluid properties. In this paper, we suggest a newly constructed equation for fluid states, the generalized van der Waals (GvdW) EOS with the highly simplified Dieterici's form P = [RT/(V - b)] - a(b/V)c by a new model potential construction describing intermolecular interactions. On the basis of the model potential construction, it is shown that the a, b, and c parameters have physical interpretations as an internal pressure, a void volume, and a dimensionless value that represents an inharmonic intermolecular cell potential, respectively. As an illustration of our model approach, we initially apply it to near the critical point (cp) region, where all classical EOS descriptions have been incorporated with experimental thermodynamic data, and we obtain a table of three parameters for 12 pure normal fluids, which precisely describes thermodynamic critical values. On the basis of the basic relations between pressure and volume at the critical point, we express the corresponding EOS in terms of the c parameter, and by this means, we also obtain a theoretical vapor-liquid equilibrium (VLE) line, which closely coincides with the experimental data for several pure normal fluids near the critical region. As a result, we show that thermodynamic properties near the critical region can be described analytically by only three parameters. In addition, to validate our EOS for the temperature-differential derivatives, we show that the calculated isochoric heat capacity (Cv) of saturated argon closely coincides with the experimental data. Moreover, the possibility of a precise description with respect to the entire fluid region is also argued, in terms of the physical cases from the triple point to the ideal gas region.

  6. [Diagnostics of broncho-obstructive states in children with wheezing syndrome and who live in ecologically non-friendly regions].

    Science.gov (United States)

    Antypkin, Iu H; Velychko, M I; Arabs'ka, L P; Barteniev, S H; Pavlovs'kyĭ, V S; Dardyns'ka, I V

    2008-01-01

    Disorders found by Spirography have been analysed. These data were obtained from 137 children with bronchial asthma and with wheezing syndrome and who live in ecologically not unfavorable regions of Ukraine. Decrease in patency of airways of small and big caliber was detected in patients with bronchial asthma from Dneprodzerzhinsk and the middle and Decrease in patency of airways of middle and small caliber small caliber of patients from Mariupol. The pharmacological test with salbuthamol demonstrated considerable changes in the reactivity of bronchial apparatus that shows necessity of administration of drugs correction in children with bronchial asthma and necessity to detail indications for this correction to patients with an isolated decreased patency of airways of big caliber.

  7. Cervical Epidural Anaesthesia for Radical Mastectomy and Chronic Regional Pain Syndrome of Upper Limb - A Case Report

    Directory of Open Access Journals (Sweden)

    Ashok Jadon

    2009-01-01

    Full Text Available A 47-yrs-female patient presented with carcinoma right breast, swelling and allodynia of right upper limb. radical mastectomy with axillary clearance and skin grafting was done under cervical epidural anaesthesia through 18G epidural catheter placed at C6/C7 level. Postoperative analgesia and rehabilitation of affected right upper limb was managed by continuous epidural infusion of 0.125% bupivacaine and 2.5 µg/ml -1 clonidine solution through epidu-ral catheter for 5 days and physiotherapy. This case report highlights the usefulness of cervical epidural analgesia in managing a complex situation of carcinoma breast with associated periarthitis of shoulder joint and chronic regional pain syndrome (CRPS of right upper limb.

  8. Regulation of peripheral blood flow in Complex Regional Pain Syndrome: clinical implication for symptomatic relief and pain management

    Directory of Open Access Journals (Sweden)

    Coderre Terence J

    2009-09-01

    Full Text Available Abstract Background During the chronic stage of Complex Regional Pain Syndrome (CRPS, impaired microcirculation is related to increased vasoconstriction, tissue hypoxia, and metabolic tissue acidosis in the affected limb. Several mechanisms may be responsible for the ischemia and pain in chronic cold CPRS. Discussion The diminished blood flow may be caused by either sympathetic dysfunction, hypersensitivity to circulating catecholamines, or endothelial dysfunction. The pain may be of neuropathic, inflammatory, nociceptive, or functional nature, or of mixed origin. Summary The origin of the pain should be the basis of the symptomatic therapy. Since the difference in temperature between both hands fluctuates over time in cold CRPS, when in doubt, the clinician should prioritize the patient's report of a persistent cold extremity over clinical tests that show no difference. Future research should focus on developing easily applied methods for clinical use to differentiate between central and peripheral blood flow regulation disorders in individual patients.

  9. [Evaluation of low level laser and interferential current in the therapy of complex regional pain syndrome by infrared thermographic camera].

    Science.gov (United States)

    Kocić, Mirjana; Lazović, Milica; Dimitrijević, Irena; Mancić, Dragan; Stanković, Anita

    2010-09-01

    BACKGROUND/AIM; Complex regional pain syndrom type I (CRPS I) is characterised by continuous regional pain, disproportional according to duration and intensity and to the sort of trauma or other lesion it was caused by. The aim of the study was to evaluate and compare, by using thermovison, the effects of low level laser therapy and therapy with interferential current in treatment of CRPS I. The prospective randomized controlled clinical study included 45 patients with unilateral CRPS 1, after a fracture of the distal end of the radius, of the tibia and/or the fibula, treated in the Clinical Centre in Nis from 2004 to 2007. The group A consisted of 20 patients treated by low level laser therapy and kinesy-therapy, while the patients in the group B (n = 25) were treated by interferential current and kinesy-therapy. The regions of interest were filmed by a thermovision camera on both sides, before and after the 20 therapeutic procedures had been applied. Afterwards, the quantitative analysis and the comparing of thermograms taken before and after the applied therapy were performed. There was statistically significant decrease of the mean maximum temperature difference between the injured and the contralateral extremity after the therapy in comparison to the status before the therapy, with the patients of the group A (p interferential current therapy.

  10. Intrathecal Bupivacaine Monotherapy with a Retrograde Catheter for the Management of Complex Regional Pain Syndrome of the Lower Extremity.

    Science.gov (United States)

    McRoberts, W Porter; Apostol, Catalina; Haleem, Abdul

    2016-01-01

    Complex regional pain syndrome (CRPS) presents a therapeutic challenge due to its many presentations and multifaceted pathophysiology. There is no approved treatment algorithm and clinical interventions are often applied empirically. In cases of CRPS where symptoms are localized to an extremity, a targeted treatment is indicated. We describe the use of intrathecal bupivacaine monotherapy, delivered through a retrograde catheter, in the treatment of CRPS affecting the lower extremity. The patient, a 57-year-old woman with a history of failed foot surgery, was seen in our office after 2 years of ineffective treatments with local blocks and neurolytic procedures. We advanced therapy to moderately invasive procedures with an emphasis on neuromodulation. A combined central and peripheral stimulation technique that initially provided 75% pain relief, failed to provide lasting analgesia. We proceeded with an intrathecal pump implant. Based on the results of dorsal root ganglion (DRG) mapping, L5-S1 was identified as the optimal target for therapy and a retrograde catheter was placed at this level. Various intrathecal medications were tested individually. An intrathecal morphine trial was ineffective (visual analog scale [VAS] 7), while intrathecal clonidine provided excellent pain relief (VAS 0) that was limited by severe side effects. Bupivacaine provided 100% analgesia with tolerable side effects (lower extremity weakness and minor bladder incontinence) and was selected for intrathecal infusion. After 14 months, bupivacaine treatment continued to control pain exacerbations. We conclude that CRPS patients benefit from early identification of the predominant underlying symptoms and a targeted treatment with moderately invasive techniques when less invasive techniques fail. Intrathecal bupivacaine, bupivacaine monotherapy, retrograde catheter, complex regional pain syndrome (CRPS), dual stimulation, dosal root ganglion (DRG) testing.

  11. A putative polypeptide N-acetylgalactosaminyltransferase/Williams-Beuren syndrome chromosome region 17 (WBSCR17) regulates lamellipodium formation and macropinocytosis.

    Science.gov (United States)

    Nakayama, Yoshiaki; Nakamura, Naosuke; Oki, Sayoko; Wakabayashi, Masaki; Ishihama, Yasushi; Miyake, Ayumi; Itoh, Nobuyuki; Kurosaka, Akira

    2012-09-14

    We previously identified a novel polypeptide N-acetylgalactosaminyltransferase (GalNAc-T) gene, which is designated Williams-Beuren syndrome chromosome region 17 (WBSCR17) because it is located in the chromosomal flanking region of the Williams-Beuren syndrome deletion. Recent genome-scale analysis of HEK293T cells treated with a high concentration of N-acetylglucosamine (GlcNAc) demonstrated that WBSCR17 was one of the up-regulated genes possibly involved in endocytosis (Lau, K. S., Khan, S., and Dennis, J. W. (2008) Genome-scale identification of UDP-GlcNAc-dependent pathways. Proteomics 8, 3294-3302). To assess its roles, we first expressed recombinant WBSCR17 in COS7 cells and demonstrated that it was N-glycosylated and localized mainly in the Golgi apparatus, as is the case for the other GalNAc-Ts. Assay of recombinant WBSCR17 expressed in insect cells showed very low activity toward typical mucin peptide substrates. We then suppressed the expression of endogenous WBSCR17 in HEK293T cells using siRNAs and observed phenotypic changes of the knockdown cells with reduced lamellipodium formation, altered O-glycan profiles, and unusual accumulation of glycoconjugates in the late endosomes/lysosomes. Analyses of endocytic pathways revealed that macropinocytosis, but neither clathrin- nor caveolin-dependent endocytosis, was elevated in the knockdown cells. This was further supported by the findings that the overexpression of recombinant WBSCR17 stimulated lamellipodium formation, altered O-glycosylation, and inhibited macropinocytosis. WBSCR17 therefore plays important roles in lamellipodium formation and the regulation of macropinocytosis as well as lysosomes. Our study suggests that a subset of O-glycosylation produced by WBSCR17 controls dynamic membrane trafficking, probably between the cell surface and the late endosomes through macropinocytosis, in response to the nutrient concentration as exemplified by environmental GlcNAc.

  12. Potential novel mechanism for Axenfeld-Rieger syndrome: deletion of a distant region containing regulatory elements of PITX2.

    Science.gov (United States)

    Volkmann, Bethany A; Zinkevich, Natalya S; Mustonen, Aki; Schilter, Kala F; Bosenko, Dmitry V; Reis, Linda M; Broeckel, Ulrich; Link, Brian A; Semina, Elena V

    2011-03-01

    Mutations in PITX2 are associated with Axenfeld-Rieger syndrome (ARS), which involves ocular, dental, and umbilical abnormalities. Identification of cis-regulatory elements of PITX2 is important to better understand the mechanisms of disease. Conserved noncoding elements surrounding PITX2/pitx2 were identified and examined through transgenic analysis in zebrafish; expression pattern was studied by in situ hybridization. Patient samples were screened for deletion/duplication of the PITX2 upstream region using arrays and probes. Zebrafish pitx2 demonstrates conserved expression during ocular and craniofacial development. Thirteen conserved noncoding sequences positioned within a gene desert as far as 1.1 Mb upstream of the human PITX2 gene were identified; 11 have enhancer activities consistent with pitx2 expression. Ten elements mediated expression in the developing brain, four regions were active during eye formation, and two sequences were associated with craniofacial expression. One region, CE4, located approximately 111 kb upstream of PITX2, directed a complex pattern including expression in the developing eye and craniofacial region, the classic sites affected in ARS. Screening of ARS patients identified an approximately 7600-kb deletion that began 106 to 108 kb upstream of the PITX2 gene, leaving PITX2 intact while removing regulatory elements CE4 to CE13. These data suggest the presence of a complex distant regulatory matrix within the gene desert located upstream of PITX2 with an essential role in its activity and provides a possible mechanism for the previous reports of ARS in patients with balanced translocations involving the 4q25 region upstream of PITX2 and the current patient with an upstream deletion.

  13. Hantavirus pulmonary syndrome and rodent reservoirs in the savanna-like biome of Brazil's southeastern region.

    Science.gov (United States)

    Limongi, J E; Oliveira, R C; Guterres, A; Costa Neto, S F; Fernandes, J; Vicente, L H B; Coelho, M G; Ramos, V N; Ferreira, M S; Bonvicino, C R; D'Andrea, P S; Lemos, E R S

    2016-04-01

    This paper describes the diversity of rodent fauna in an area endemic for hantavirus cardiopulmonary syndrome (HCPS) in Brazil, the population dynamics and the relationship of rodents with hantavirus in the Cerrado (savanna-like) biome. Additionally, an analysis is made of the partial S segment sequences of the hantaviruses obtained from serologically confirmed human HCPS cases and from rodent specimens. Rodents were collected during four campaigns. Human serum samples were collected from suspected cases of HCPS at hospitals in the state of Minas Gerais. The samples antibody-reactive by ELISA were processed by RT-PCR. The PCR product was amplified and sequenced. Hantavirus was detected only in Necromys lasiurus, the wild rodent species most prevalent in the Cerrado biome (min-max: 50-83·7%). All the six human serum samples were hantavirus seropositive and five showed amplified PCR products. The analysis of the nucleotide sequences showed the circulation of a single genotype, the Araraquara hantavirus. The environmental changes that have occurred in the Cerrado biome in recent decades have favoured N. lasiurus in interspecific competition of habitats, thus increasing the risk of contact between humans and rodent species infected with hantavirus. Our data corroborate the definition of N. lasiurus as the main hantavirus reservoir in the Cerrado biome.

  14. Screening of MITF and SOX10 regulatory regions in Waardenburg syndrome type 2.

    Directory of Open Access Journals (Sweden)

    Viviane Baral

    Full Text Available Waardenburg syndrome (WS is a rare auditory-pigmentary disorder that exhibits varying combinations of sensorineural hearing loss and pigmentation defects. Four subtypes are clinically defined based on the presence or absence of additional symptoms. WS type 2 (WS2 can result from mutations within the MITF or SOX10 genes; however, 70% of WS2 cases remain unexplained at the molecular level, suggesting that other genes might be involved and/or that mutations within the known genes escaped previous screenings. The recent identification of a deletion encompassing three of the SOX10 regulatory elements in a patient presenting with another WS subtype, WS4, defined by its association with Hirschsprung disease, led us to search for deletions and point mutations within the MITF and SOX10 regulatory elements in 28 yet unexplained WS2 cases. Two nucleotide variations were identified: one in close proximity to the MITF distal enhancer (MDE and one within the U1 SOX10 enhancer. Functional analyses argued against a pathogenic effect of these variations, suggesting that mutations within regulatory elements of WS genes are not a major cause of this neurocristopathy.

  15. Screening of MITF and SOX10 Regulatory Regions in Waardenburg Syndrome Type 2

    Science.gov (United States)

    Baral, Viviane; Chaoui, Asma; Watanabe, Yuli; Goossens, Michel; Attie-Bitach, Tania; Marlin, Sandrine; Pingault, Veronique; Bondurand, Nadege

    2012-01-01

    Waardenburg syndrome (WS) is a rare auditory-pigmentary disorder that exhibits varying combinations of sensorineural hearing loss and pigmentation defects. Four subtypes are clinically defined based on the presence or absence of additional symptoms. WS type 2 (WS2) can result from mutations within the MITF or SOX10 genes; however, 70% of WS2 cases remain unexplained at the molecular level, suggesting that other genes might be involved and/or that mutations within the known genes escaped previous screenings. The recent identification of a deletion encompassing three of the SOX10 regulatory elements in a patient presenting with another WS subtype, WS4, defined by its association with Hirschsprung disease, led us to search for deletions and point mutations within the MITF and SOX10 regulatory elements in 28 yet unexplained WS2 cases. Two nucleotide variations were identified: one in close proximity to the MITF distal enhancer (MDE) and one within the U1 SOX10 enhancer. Functional analyses argued against a pathogenic effect of these variations, suggesting that mutations within regulatory elements of WS genes are not a major cause of this neurocristopathy. PMID:22848661

  16. Association of polymorphisms of interleukin-18 gene promoter region with polycystic ovary syndrome in chinese population

    Directory of Open Access Journals (Sweden)

    Li Mei-zhi

    2010-10-01

    Full Text Available Abstract Background Recent research shows that polycystic ovary syndrome (PCOS may have an association with low-grade chronic inflammation, and that PCOS may induce an increase in serum interleukin-18 (IL-18 levels. Methods To investigate the polymorphisms of the IL-18 gene promoters with PCOS, two single nucleotide polymorphisms (SNPs in the promoter of the IL-18 gene (at positions -607C/A and -137G/C in 118 Chinese women with PCOS and 79 controls were evaluated using polymerase chain reaction (PCR. Results No significant differences were found in the genotype distribution, allele frequency and haplotype frequency between the PCOS and control groups. Further analysis demonstrated a relationship between IL-18 gene promoter polymorphisms and PCOS insulin resistance (IR. Regarding the -137 allele frequency, G and C allele frequencies were 93.5% and 6.5%, respectively, in the PCOS with IR patients; G and C allele frequencies were 85.4% and 14.6%, respectively, in PCOS patients without IR (chi2 = 3.601, P = 0.048. Conclusions The presence of a polymorphism in the IL-18 gene was found to have no correlation with the occurrence of PCOS. Carriage of the C allele at position -137 in the promoter of the IL-18 gene may play a protective role from the development of PCOS IR.

  17. Topographical pressure pain sensitivity maps of the shoulder region in individuals with subacromial pain syndrome.

    Science.gov (United States)

    Ribeiro, I L; Camargo, P R; Alburquerque-Sendín, F; Madeleine, P; Fernández-de-las-Peñas, C; Salvini, T F

    2016-02-01

    Topographical pain maps (TPM) are useful tools to assess deep tissue sensitivity in musculoskeletal pain conditions. There is evidence suggesting bilateral sensitivity in subacromial pain syndrome (SAPS), although it is not widely accepted. No previous study has investigated TPM of the shoulder in SAPS. To investigate whether differences for TPM of the shoulder are evident among patients with unilateral SAPS and controls. Pressure pain thresholds (PPTs) were assessed 3 times at each point and there was a 20 s rest period between each one. The TPM were calculated using 29 pre-determined points on both shoulders in all groups by inverse distance weighted interpolation of PPT data. Multivariate Analysis of Covariance was applied to detect differences in PPTs between groups, sides, points (gender as covariate). The results revealed significant differences between points and genders (both, P shoulder. Women exhibited bilateral lower PPTs in all points than men in both groups (all, P shoulder. Copyright © 2015 Elsevier Ltd. All rights reserved.

  18. Is poststroke complex regional pain syndrome the combination of shoulder pain and soft tissue injury of the wrist?: A prospective observational study: STROBE of ultrasonographic findings in complex regional pain syndrome.

    Science.gov (United States)

    Kim, Yong Wook; Kim, Yoon; Kim, Jong Moon; Hong, Ji Seong; Lim, Hyun Sun; Kim, Hyoung Seop

    2016-08-01

    Patients with poststroke complex regional pain syndrome (CRPS) show different symptoms compared to other types of CRPS, as they usually complain of shoulder and wrist pain with the elbow relatively spared. It is thus also known by the term "shoulder-hand syndrome."The aim of this study is to present a possible pathophysiology of poststroke CRPS through ultrasonographic observation of the affected wrist before and after steroid injection at the extensor digitorum communis (EDC) tendon in patients suspected with poststroke CRPS.Prospective evaluation and observation, the STROBE guideline checklist was used.Twenty-three patients diagnosed as poststroke CRPS in accordance to clinical criteria were enrolled. They had a Three Phase Bone Scan (TPBS) done and the cross-sectional area (CSA) of EDC tendon was measured by using ultrasonography. They were then injected with steroid at the EDC tendon. The CSA of EDC tendon, visual analogue scale (VAS), and degree of swelling of the wrist were followed up 1 week after the injection.TPBS was interpreted as normal for 4 patients, suspected CRPS for 10 patients, and CRPS for 9 patients. Ultrasonographic findings of the affected wrist included swelling of the EDC tendon. After the injection of steroid to the wrist, CSA and swelling of the affected wrist compared to that before the treatment was significantly decreased (P < 0.001). The VAS score declined significantly after the injection (P < 0.001).Our results suggest that the pathophysiology of poststroke CRPS might be the combination of frozen shoulder or rotator cuff tear of shoulder and soft tissue injury of the wrist caused by the hemiplegic nature of patients with stroke.

  19. A Murine Model for Human ECO Syndrome Reveals a Critical Role of Intestinal Cell Kinase in Skeletal Development.

    Science.gov (United States)

    Ding, Mengmeng; Jin, Li; Xie, Lin; Park, So Hyun; Tong, Yixin; Wu, Di; Chhabra, A Bobby; Fu, Zheng; Li, Xudong

    2018-03-01

    An autosomal-recessive inactivating mutation R272Q in the human intestinal cell kinase (ICK) gene caused profound multiplex developmental defects in human endocrine-cerebro-osteodysplasia (ECO) syndrome. ECO patients exhibited a wide variety of skeletal abnormalities, yet the underlying mechanisms by which ICK regulates skeletal development remained largely unknown. The goal of this study was to understand the structural and mechanistic basis underlying skeletal anomalies caused by ICK dysfunction. Ick R272Q knock-in transgenic mouse model not only recapitulated major ECO skeletal defects such as short limbs and polydactyly but also revealed a deformed spine with defective intervertebral disk. Loss of ICK function markedly reduced mineralization in the spinal column, ribs, and long bones. Ick mutants showed a significant decrease in the proliferation zone of long bones and the number of type X collagen-expressing hypertrophic chondrocytes in the spinal column and the growth plate of long bones. These results implicate that ICK plays an important role in bone and cartilage development by promoting chondrocyte proliferation and maturation. Our findings provided new mechanistic insights into the skeletal phenotype of human ECO and ECO-like syndromes.

  20. Using skin surface temperature to differentiate between complex regional pain syndrome type 1 patients after a fracture and control patients with various complaints after a fracture

    NARCIS (Netherlands)

    S.P. Niehof (Sjoerd); A. Beerthuizen (Annemerle); F.J.P.M. Huygen (Frank); F.J. Zijlstra (Freek)

    2008-01-01

    textabstractOBJECTIVE: In this study, we assessed the validity of skin surface temperature recordings, based on various calculation methods applied to the thermographic data, to diagnose acute complex regional pain syndrome type 1 (CRPS1) fracture patients. METHODS: Thermographic recordings of the

  1. Deletions and rearrangements of the H19/IGF2 enhancer region in patients with Silver-Russell syndrome and growth retardation

    DEFF Research Database (Denmark)

    Grønskov, Karen; Poole, Rebecca L; Hahnemann, Johanne M D

    2011-01-01

    Silver-Russell syndrome (SRS) is characterised by prenatal and postnatal growth retardation, dysmorphic facial features, and body asymmetry. In 35-60% of SRS cases the paternally methylated imprinting control region (ICR) upstream of the H19 gene (H19-ICR) is hypomethylated, leading to downregula...

  2. Development of a symptoms questionnaire for complex regional pain syndrome and potentially related illnesses: the Trauma Related Neuronal Dysfunction Symptoms Inventory

    NARCIS (Netherlands)

    Collins, S.; van Hilten, J.J.; Marinus, J.J.; Zuurmond, W.W.A.; de Lange, J.J.; Perez, R.S.G.M.

    2008-01-01

    Collins S, van Hilten JJ, Marinus J, Zuurmond WW, de Lange JJ, Perez RS. Development of a symptoms questionnaire for complex regional pain syndrome and potentially related illnesses: the Trauma Related Neuronal Dysfunction Symptoms Inventory. Objective: To develop a questionnaire to evaluate

  3. Complex regional pain syndrome type I : Use of the International Association for the Study of Pain diagnostic criteria defined in 1994

    NARCIS (Netherlands)

    Reinders, M.F.; Geertzen, J.H.B.; Dijkstra, P.U.

    2002-01-01

    Objectives: The objective was to assess the reported use in recent publications of the diagnostic criteria for complex regional pain syndrome type I (CRPS 1) proposed by the International Association for the Study of Pain (IASP) in 1994. Methods: A literature search of MEDLINE (January 1996 to July

  4. Comparison of regional fat mass measurement by whole body DXA scans and anthropometric measures to predict insulin resistance in women with polycystic ovary syndrome and controls

    DEFF Research Database (Denmark)

    Glintborg, Dorte; Houborg Petersen, Maria; Ravn, Pernille

    2016-01-01

    INTRODUCTION: Polycystic ovary syndrome (PCOS) is characterized by obesity and insulin resistance. Measures of regional obesity may be used to predict insulin resistance. In the present study we compared fat distribution in patients with PCOS vs. controls and established the best measure of fat...

  5. The C15orf2 gene in the Prader-Willi syndrome region is subject to genomic imprinting and positive selection

    NARCIS (Netherlands)

    Wawrzik, Michaela; Unmehopa, Unga Arifa; Swaab, Dick Frans; van de Nes, Johannes; Buiting, Karin; Horsthemke, Bernhard

    2010-01-01

    C15orf2 (Chromosome 15 open reading frame 2) is an intronless gene, which is located in the Prader-Willi syndrome (PWS) chromosomal region on human chromosome 15. Mice do not have an orthologous gene. Here we show that expression of C15orf2 in the fetal human brain is imprinted. Using Western blot

  6. Comparisons of metabolic syndrome definitions in four populations of the Asia-Pacific region.

    Science.gov (United States)

    Lee, Crystal Man Ying; Huxley, Rachel R; Woodward, Mark; Zimmet, Paul; Shaw, Jonathan; Cho, Nam H; Kim, Hyung Rae; Viali, Satu; Tominaga, Makoto; Vistisen, Dorte; Borch-Johnsen, Knut; Colagiuri, Stephen

    2008-03-01

    To compare the prevalence of metabolic syndrome (MetS) by four MetS definitions in four Asia-Pacific populations, and to compare the prevalence of individual metabolic components. Population-based cross-sectional studies from Australia, Japan, Korea, and Samoa were used to assess the World Health Organization (WHO), European Group for the Study of Insulin Resistance (EGIR), modified National Cholesterol Education Program Adult Treatment Panel III (modATPIII), and International Diabetes Federation (IDF) MetS definitions. Age-adjusted MetS prevalences were compared within and between countries and kappa statistics were used to determine the agreement between IDF and the other three definitions. Japanese people had the lowest prevalence of MetS regardless of definition, and Samoans generally the highest prevalence. Age-adjusted prevalences for the four definitions ranged from 16% to 42% in Australia, 3% to 11% in Japan, 7% to 29% in Korea and 17% to 60% in Samoa. With the exceptions of Korean and Japanese males, the highest prevalence of MetS was obtained with the IDF definition. The best overall agreement with IDF MetS definition was for modATPIII, and the worst for EGIR. There were marked differences in the prevalence of MetS between the sexes, with no systematic pattern, and between the prevalences of individual metabolic components. Differences in the prevalence of MetS and its components, using the various definitions, both within and between populations, indicate that caution is required when comparing studies from different countries. Determining the clinical significance of these differences will require prospective outcome studies.

  7. Metabolic syndrome among a middle-aged population in the Red River Delta region of Vietnam.

    Science.gov (United States)

    Binh, Tran Quang; Phuong, Pham Tran; Nhung, Bui Thi; Tung, Do Dinh

    2014-09-26

    Metabolic syndrome (MetS) is a clustering of metabolic risk factors for cardiovascular diseases and type 2 diabetes. The study aimed to estimate the prevalence of MetS, its components, and their associations among rural middle-aged population in Vietnam. A cross-sectional study with a representative sample (n = 2443) was conducted to collect data on demographic, socioeconomic, anthropometric, lifestyles, plasma glucose, and lipid profile. The age- and sex-adjusted prevalences of MetS and its components were calculated using the direct standardization. Associations of risk factors with MetS were evaluated using logistic regression, taken into account the confounding factors. The total age- and sex-adjusted prevalence (95% CI) of MetS was 16.3% (14.0 - 18.6). The most frequent component of MetS was high triglycerides (43.2%), followed by low HDL-C (42.0%), elevated blood pressure (29.2%), high plasma glucose (14.3%), and central obesity (12.3%). Of the total population, only 17.6% did not have any component of MetS and more than 40% had at least two MetS components. The association of MetS with residence, age, body mass index, marital status, and siesta time per day was statistically significant in univariate analysis and replicated in multivariate analysis. The MetS prevalence and its components are common and major public health burden in the middle-aged adults in Vietnam. Habitants living in urban, being never-married, having an increase in age, BMI, and siesta time per day are significantly associated with MetS, and they should be paid much more attention for screening and implementing preventive activities.

  8. Establishment and application of a new diagnostic definition of metabolic syndrome in the Shantou region of southern China.

    Science.gov (United States)

    Ding, Zan; Pi, Fuhua; Zhang, Shengchao; Dong, Wenya; Wen, Ye; Wu, Jiang; Zhang, Qingying

    2016-02-23

    The existing definitions of metabolic syndrome (MetS) may not be fully appropriate for the Shantou population because of ethnic and regional differences. We sought to establish a 95% multivariate medical reference range (MMRR) model for diagnosing MetS in Shantou adults and to evaluate the prevalence of MetS by the MMRR, JCDCG (the Chinese Guidelines), and International Diabetes Federation (IDF) criteria. A total of 4,580 participants were recruited in Shantou, southern China. We developed a MMRR model based on the combinatorial indicatrixes method for three categorized indicatrixes. According to the developed MMRR criteria, men (women) in Shantou have MetS by meeting 3 or more of the following: waist circumference ≥89 (81) cm; triglycerides level ≥1.73 (1.64) mmol/L; high-density lipoprotein cholesterol level ≤1.07 (1.05) mmol/L; blood pressure ≥138/89 (136/85) mmHg; and fasting plasma glucose ≥5.8 (5.7) mmol/L. The agreement of the MMRR with JCDCG and IDF criteria was "substantial" (both κ > 0.68), but the recommended reference values and proportion of individual components of MetS defined by the 3 criteria differed. The population-based MMRR criteria may be appropriate for diagnosing MetS in Shantou population and the model might be useful for generalization to other geographic regions.

  9. A novel missense mutation (G43S) in the switch I region of Rab27A causing Griscelli Syndrome

    Science.gov (United States)

    Westbroek, Wendy; Tuchman, Maya; Tinloy, Bradford; De Wever, Olivier; Vilboux, Thierry; Hertz, Jens M.; Hasle, Henrik; Heilmann, Carsten; Helip-Wooley, Amanda; Kleta, Robert; Gahl, William A.

    2008-01-01

    The autosomal recessive Griscelli syndrome type II (GSII) is caused by mutations in the RAB27A gene. Typical clinical features include immunological impairment, silver-gray scalp hair, eyelashes and eyebrows, and hypomelanosis of the skin. Rabs help determine the specificity of membrane trafficking steps within cells. In melanocytes, the GTP-bound form of Rab27A associates with the membranes of mature fully-pigmented melanosomes through its geranylgeranyl group. Once attached, Rab27A recruits the downstream effector Melanophilin (Mlph) and the actin-dependent motor protein Myosin Va (MyoVa). The molecular Rab27A/Mlph/MyoVA tripartite complex, which links melanosomes to the peripheral actin network, is required to achieve melanosome transfer to surrounding keratinocytes in the epidermis. Here we report a novel homozygous missense mutation c.127G>A, p.G43S in exon 2 of the RAB27A gene of an Afghani GSII patient. Laser scanning confocal microscopy showed that the G43S mutation, which is located in the highly conserved switch I region of Rab27A, induces perinuclear localization of melanosomes in normal melanocytes, and fails to restore melanosomes to the actin-rich periphery in GSII melanocytes. Co-immunoprecipitation studies showed that Rab27A(G43S) fails to interact with its effector Melanophilin, indicating that the Switch I region functions in the recruitment of Rab effector proteins. PMID:18397837

  10. Velo-Cardio-Facial syndrome and DiGeorge sequence with meningomyelocele and deletions of the 22q11 region

    Energy Technology Data Exchange (ETDEWEB)

    Nickel, R.E.; Pillers, D.M.; Merkens, M.; Magenis, R.E.; Zonana, J. [Oregon Health Sciences Univ., Portland, OR (United States); Driscoll, D.A.; Emanuel, B.S. [Univ. of Pennsylvania Medical Center, Philadelphia, PA (United States)

    1994-10-01

    Approximately 5% of children with neural tube defects (NTDs) have a congenital heart defect and/or cleft lip and palate. The cause of isolated meningomyelocele, congenital heart defects, or cleft lip and palate has been largely thought to be multifactorial. However, chromosomal, teratogenic, and single gene causes of combinations of NTDs with congenital heart defects and/or cleft lip and palate have been reported. We report on 3 patients with meningomyelocele, congenital heart defects, and 22q11 deletions. Two of the children had the clinical diagnosis of velo-cardio-facial syndrome (VCFS); both have bifid uvula. The third child had DiGeorge sequence (DGS). The association of NTDs with 22q11 deletion has not been reported previously. An accurate diagnosis of the 22q11 deletion is critical as this micro-deletion and its associated clinical problems is transmitted as an autosomal dominant trait due to the inheritance of the deletion-bearing chromosome. We recommend that all children with NTDs and congenital heart defects, with or without cleft palate, have cytogenetic and molecular studies performed to detect 22q11 deletions. 31 refs., 3 figs.

  11. Knowledge translation lessons from an audit of Aboriginal Australians with acute coronary syndrome presenting to a regional hospital.

    Science.gov (United States)

    Haynes, Emma; Hohnen, Harry; Katzenellenbogen, Judith M; Scalley, Benjamin D; Thompson, Sandra C

    2016-01-01

    Translation of evidence into practice by health systems can be slow and incomplete and may disproportionately impact disadvantaged populations. Coronary heart disease is the leading cause of death among Aboriginal Australians. Timely access to effective medical care for acute coronary syndrome substantially improves survival. A quality-of-care audit conducted at a regional Western Australian hospital in 2011-2012 compared the Emergency Department management of Aboriginal and non-Aboriginal acute coronary syndrome patients. This audit is used as a case study of translating knowledge processes in order to identify the factors that support equity-oriented knowledge translation. In-depth interviews were conducted with a purposive sample of the audit team and further key stakeholders with interest/experience in knowledge translation in the context of Aboriginal health. Interviews were analysed for alignment of the knowledge translation process with the thematic steps outlined in Tugwell's cascade for equity-oriented knowledge translation framework. In preparing the audit, groundwork helped shape management support to ensure receptivity to targeting Aboriginal cardiovascular outcomes. Reporting of audit findings and resulting advocacy were undertaken by the audit team with awareness of the institutional hierarchy, appropriate timing, personal relationships and recognising the importance of tailoring messages to specific audiences. These strategies were also acknowledged as important in the key stakeholder interviews. A follow-up audit documented a general improvement in treatment guideline adherence and a reduction in treatment inequalities for Aboriginal presentations. As well as identifying outcomes such as practice changes, a useful evaluation increases understanding of why and how an intervention worked. Case studies such as this enrich our understanding of the complex human factors, including individual attributes, experiences and relationships and systemic factors

  12. Knowledge translation lessons from an audit of Aboriginal Australians with acute coronary syndrome presenting to a regional hospital

    Directory of Open Access Journals (Sweden)

    Emma Haynes

    2016-07-01

    Full Text Available Objective: Translation of evidence into practice by health systems can be slow and incomplete and may disproportionately impact disadvantaged populations. Coronary heart disease is the leading cause of death among Aboriginal Australians. Timely access to effective medical care for acute coronary syndrome substantially improves survival. A quality-of-care audit conducted at a regional Western Australian hospital in 2011–2012 compared the Emergency Department management of Aboriginal and non-Aboriginal acute coronary syndrome patients. This audit is used as a case study of translating knowledge processes in order to identify the factors that support equity-oriented knowledge translation. Methods: In-depth interviews were conducted with a purposive sample of the audit team and further key stakeholders with interest/experience in knowledge translation in the context of Aboriginal health. Interviews were analysed for alignment of the knowledge translation process with the thematic steps outlined in Tugwell’s cascade for equity-oriented knowledge translation framework. Results: In preparing the audit, groundwork helped shape management support to ensure receptivity to targeting Aboriginal cardiovascular outcomes. Reporting of audit findings and resulting advocacy were undertaken by the audit team with awareness of the institutional hierarchy, appropriate timing, personal relationships and recognising the importance of tailoring messages to specific audiences. These strategies were also acknowledged as important in the key stakeholder interviews. A follow-up audit documented a general improvement in treatment guideline adherence and a reduction in treatment inequalities for Aboriginal presentations. Conclusion: As well as identifying outcomes such as practice changes, a useful evaluation increases understanding of why and how an intervention worked. Case studies such as this enrich our understanding of the complex human factors, including

  13. Guillain-Barré Syndrome

    Science.gov (United States)

    ... can lessen the immune attack on the nervous system. The most critical part of the treatment for this syndrome ... can lessen the immune attack on the nervous system. The most critical part of the treatment for this syndrome ...

  14. [Investigation of body hair assessment of Chinese women in Shandong region and its preliminary application in polycystic ovary syndrome patients].

    Science.gov (United States)

    Zhao, Jun-Li; Chen, Zi-Jiang; Shi, Yu-Hua; Geng, Ling; Ma, Zeng-Xiang; Li, Yuan; Tang, Rong

    2007-09-01

    To determine a suitable standard of hirsutism for Chinese polycystic ovary syndrome (PCOS) patients living in Shandong region. A total of 623 unbiased women from the general population in Jinan city, 131 PCOS patients and 84 controls from outpatients in Shandong region were studied with questionnaires, physical and pelvic ultrasound examination, body hair on 11 sites were evaluated, and 9 (lip, chin, arm, thigh, chest, upperbelly, lowerbelly, upperback, lowback) of them which were called hormone Ferriman-Gallwey (F-G) score and 2 (forearm, leg) sites of indifferent hormone score were calculated according to the score system described by Ferriman and Gallwey. (1) Both body hair F-G score and indifferent hormone score distribution mode in the or= 2 (chi(2) = 47.68, P or= 6 criterion (chi(2) = 0.64, P = 0.42). (3) F-G scores were declined with age increase. The hair score on the lip, chest, lowerbelly in general population were positively correlated with F-G score (r = 0.712, 0.594, 0.522; P or= 2) and lip, chest, lowerbelly site in general population was 0.461, 0.420, 0.489 and was 0.560, 0.532, 0.503 in PCOS group respectively. (1) Both body hair F-G score and indifferent hormone score distribution mode are significantly different from Ferriman-Gallwey's report; according to our investigation the suitable criterion of hirsutism for Chinese women in Shandong region should be >or= 2 scores. (2) By F-G score >or= 2 standard, hirsutism is more common in PCOS than in control. (3) Lip, chest, and lowerbelly are the main sites to determine the hirsutism status of women, and the later two sites are more specific for PCOS hirsutism. Forearm and leg score can indicate hirsutism status in some degree but are not specific and sensitive for PCOS hirsutism.

  15. Increased disomic homozygosity in the telomeric region of chromosome 21 among Down Syndrome individuals with duodenal atresia

    Energy Technology Data Exchange (ETDEWEB)

    Lamb, N.E.; Feingold, E.; Sherman, S.L. [Emory Univ., Altanta, GA (United States)

    1994-09-01

    Although duodenal atresia (DA) is present in only 4-7% of all Down Syndrome (DS) individuals, 30-50% of all congenital duodenal atresias occur in the DS population, suggesting the presence of gene(s) on chromosome 21 that play an important role in intestinal development. We recently proposed a chromosome 21 gene dosage model to explain the phenotypic variance seen among DS individuals and presented a strategy to map genes involved in these phenotypic traits. We suggest that {open_quote}hyper-dosage{close_quote} resulting from normal allelic differences explains the phenotypic variation. A proportion of trisomic genotypes would exceed some activity threshold and express the trait. In affected individuals, this increase in expression is due to the presence of two identical copies of {open_quote}susceptibility{close_quote} allele, inherited from a heterozygous parent of origin. Individuals with trisomy 21 and a specific phenotypic defect should exhibit increased levels of disomic homozygosity in the region containing the gene involved in the defect`s etiology. These data can be used to map these genes. Using this approach, we have examined markers along the long arm of chromosome 21 among DS individuals with DA and determined the degree of disomic homozygosity at each marker. This frequency was compared to the level of disomic homozygosity among our entire DS study population consisting of approximately 380 DS families to test for linkage between DA and each marker. Preliminary analysis of 13 DS cases with DA indicates an increase in disomic homozygosity along the distal region of the chromosome, from HMG14 to D21S171, the most telomeric marker analyzed. An additional 15 cases are currently being analyzed to confirm and better define this candidate region.

  16. Evaluation of low level laser and interferential current in the therapy of complex regional pain syndrome by infrared thermographic camera

    Directory of Open Access Journals (Sweden)

    Kocić Mirjana

    2010-01-01

    Full Text Available Background/Aim. Complex regional pain syndrome type I (CRPS I is characterized by continuous regional pain, disproportional according to duration and intensity and to the sort of trauma or other lesion it was caused by. The aim of the study was to evaluate and compare, by using thermovison, the effects of low level laser therapy and therapy with interferential current in treatment of CRPS I. Methods. The prospective randomized controlled clinical study included 45 patients with unilateral CRPS I, after a fracture of the distal end of the radius, of the tibia and/or the fibula, treated in the Clinical Centre in Nis from 2004 to 2007. The group A consisted of 20 patients treated by low level laser therapy and kinesy-therapy, while the patients in the group B (n = 25 were treated by interferential current and kinesy-therapy. The regions of interest were filmed by a thermovision camera on both sides, before and after the 20 therapeutic procedures had been applied. Afterwards, the quantitative analysis and the comparing of thermograms taken before and after the applied therapy were performed. Results. There was statistically significant decrease of the mean maximum temperature difference between the injured and the contralateral extremity after the therapy in comparison to the status before the therapy, with the patients of the group A (p < 0.001 as well as those of the group B (p < 0.001. The decrease was statistically significantly higher in the group A than in the group B (p < 0.05. Conclusions. By the use of the infrared thermovision we showed that in the treatment of CRPS I both physical medicine methods were effective, but the effectiveness of laser therapy was statistically significantly higher compared to that of the interferential current therapy.

  17. Mid-regional proadrenomedullin: An early marker of response in critically ill patients with severe community-acquired pneumonia?

    Directory of Open Access Journals (Sweden)

    J.M. Pereira

    2016-11-01

    Full Text Available Background: Mid-regional proadrenomedullin (MR-proADM is a novel biomarker with potential prognostic utility in patients with community-acquired pneumonia (CAP. Purpose: To evaluate the value of MR-proADM levels at ICU admission for further severity stratification and outcome prediction, and its kinetics as an early predictor of response in severe CAP (SCAP. Materials and methods: Prospective, single-center, cohort study of 19 SCAP patients admitted to the ICU within 12 h after the first antibiotic dose. Results: At ICU admission median MR-proADM was 3.58 nmol/l (IQR: 2.83–10.00. No significant association was found between its serum levels at admission and severity assessed by SAPS II (Spearman's correlation = 0.24, p = 0.31 or SOFA score (SOFA < 10: <3.45 nmol/l vs. SOFA ≥ 10: 3.90 nmol/l, p = 0.74. Hospital and one-year mortality were 26% and 32%, respectively. No significant difference in median MR-proADM serum levels was found between survivors and non-survivors and its accuracy to predict hospital mortality was bad (aROC 0.53. After 48 h of antibiotic therapy, MR-proADM decreased in all but 5 patients (median −20%; IQR −56% to +0.1%. Its kinetics measured by the percent change from baseline was a good predictor of clinical response (aROC 0.80. The best discrimination was achieved by classifying patients according to whether MR-proADM decreased or not within 48 h. No decrease in MR-proADM serum levels significantly increased the chances of dying independently of general severity (SAPS II-adjusted OR 174; 95% CI 2–15,422; p = 0.024. Conclusions: In SCAP patients, a decrease in MR-proADM serum levels in the first 48 h after ICU admission was a good predictor of clinical response and better outcome. Keywords: Proadrenomedullin, Biomarkers, Severe community acquired pneumonia, Outcome, Critically ill patients

  18. Early Retinal Defects in Fmr1−/y Mice: Toward a Critical Role of Visual Dys-Sensitivity in the Fragile X Syndrome Phenotype?

    Directory of Open Access Journals (Sweden)

    Olivier Perche

    2018-04-01

    Full Text Available Fragile X Syndrome (FXS is caused by a deficiency in Fragile X Mental Retardation Protein (FMRP leading to global sensorial abnormalities, among which visual defects represent a critical part. These visual defects are associated with cerebral neuron immaturity especially in the primary visual cortex. However, we recently demonstrated that retinas of adult Fmr1−/y mice, the FXS murine model, present molecular, cellular and functional alterations. However, no data are currently available on the evolution pattern of such defects. As retinal stimulation through Eye Opening (EO is a crucial signal for the cerebral visual system maturation, we questioned the precocity of molecular and functional retinal phenotype. To answer this question, we studied the retinal molecular phenotype of Fmr1−/y mice before EO until adult age and the consequences of the retinal loss of Fmrp on retinal function in young and adult mice. We showed that retinal molecular defects are present before EO and remain stable at adult age, leading to electrophysiological impairments without any underlying structural changes. We underlined that loss of Fmrp leads to a wide range of defects in the retina, settled even before EO. Our work demonstrates a critical role of the sensorial dysfunction in the Fmr1−/y mice overall phenotype, and provides evidence that altered peripheral perception is a component of the sensory processing defect in FXS conditions.

  19. Early Retinal Defects in Fmr1-/y Mice: Toward a Critical Role of Visual Dys-Sensitivity in the Fragile X Syndrome Phenotype?

    Science.gov (United States)

    Perche, Olivier; Felgerolle, Chloé; Ardourel, Maryvonne; Bazinet, Audrey; Pâris, Arnaud; Rossignol, Rafaëlle; Meyer-Dilhet, Géraldine; Mausset-Bonnefont, Anne-Laure; Hébert, Betty; Laurenceau, David; Montécot-Dubourg, Céline; Menuet, Arnaud; Bizot, Jean-Charles; Pichon, Jacques; Ranchon-Cole, Isabelle; Briault, Sylvain

    2018-01-01

    Fragile X Syndrome (FXS) is caused by a deficiency in Fragile X Mental Retardation Protein (FMRP) leading to global sensorial abnormalities, among which visual defects represent a critical part. These visual defects are associated with cerebral neuron immaturity especially in the primary visual cortex. However, we recently demonstrated that retinas of adult Fmr1 -/y mice, the FXS murine model, present molecular, cellular and functional alterations. However, no data are currently available on the evolution pattern of such defects. As retinal stimulation through Eye Opening (EO) is a crucial signal for the cerebral visual system maturation, we questioned the precocity of molecular and functional retinal phenotype. To answer this question, we studied the retinal molecular phenotype of Fmr1 -/y mice before EO until adult age and the consequences of the retinal loss of Fmrp on retinal function in young and adult mice. We showed that retinal molecular defects are present before EO and remain stable at adult age, leading to electrophysiological impairments without any underlying structural changes. We underlined that loss of Fmrp leads to a wide range of defects in the retina, settled even before EO. Our work demonstrates a critical role of the sensorial dysfunction in the Fmr1 -/y mice overall phenotype, and provides evidence that altered peripheral perception is a component of the sensory processing defect in FXS conditions.

  20. Early Retinal Defects in Fmr1−/y Mice: Toward a Critical Role of Visual Dys-Sensitivity in the Fragile X Syndrome Phenotype?

    Science.gov (United States)

    Perche, Olivier; Felgerolle, Chloé; Ardourel, Maryvonne; Bazinet, Audrey; Pâris, Arnaud; Rossignol, Rafaëlle; Meyer-Dilhet, Géraldine; Mausset-Bonnefont, Anne-Laure; Hébert, Betty; Laurenceau, David; Montécot-Dubourg, Céline; Menuet, Arnaud; Bizot, Jean-Charles; Pichon, Jacques; Ranchon-Cole, Isabelle; Briault, Sylvain

    2018-01-01

    Fragile X Syndrome (FXS) is caused by a deficiency in Fragile X Mental Retardation Protein (FMRP) leading to global sensorial abnormalities, among which visual defects represent a critical part. These visual defects are associated with cerebral neuron immaturity especially in the primary visual cortex. However, we recently demonstrated that retinas of adult Fmr1−/y mice, the FXS murine model, present molecular, cellular and functional alterations. However, no data are currently available on the evolution pattern of such defects. As retinal stimulation through Eye Opening (EO) is a crucial signal for the cerebral visual system maturation, we questioned the precocity of molecular and functional retinal phenotype. To answer this question, we studied the retinal molecular phenotype of Fmr1−/y mice before EO until adult age and the consequences of the retinal loss of Fmrp on retinal function in young and adult mice. We showed that retinal molecular defects are present before EO and remain stable at adult age, leading to electrophysiological impairments without any underlying structural changes. We underlined that loss of Fmrp leads to a wide range of defects in the retina, settled even before EO. Our work demonstrates a critical role of the sensorial dysfunction in the Fmr1−/y mice overall phenotype, and provides evidence that altered peripheral perception is a component of the sensory processing defect in FXS conditions. PMID:29681800

  1. Bisphosphonates for treatment of Complex Regional Pain Syndrome type 1: A systematic literature review and meta-analysis of randomized controlled trials versus placebo.

    Science.gov (United States)

    Chevreau, Maxime; Romand, Xavier; Gaudin, Philippe; Juvin, Robert; Baillet, Athan

    2017-07-01

    Complex Regional Pain Syndrome Type 1 is a severely disabling pain syndrome with no definite established treatment. We have performed a systematic literature review and meta-analysis of all randomized controlled trials to assess the benefit of bisphosphonates on pain and function in patients with Complex Regional Pain Syndrome Type 1. A systematic literature search was performed in the Medline, Embase and Cochrane databases. Two authors selected independently blinded randomized trials comparing bisphosphonates to placebo on short-term (J30 to J40) and medium term pain (M2-M3), safety and function in patients with CRPS 1. The methodological quality of the studies was analyzed. Data were aggregated using the method of the inverse of the variance. 258 articles were identified. Four trials of moderate to good quality comprising 181 patients (90 in the bisphosphonate group and 91 in the placebo group) were included in this meta-analysis. Short-term pain Visual Analog Scale was significantly lower in the bisphosphonate group versus the placebo group (SMD=-2.6, 95%CI [-1.8, -3.4], PComplex Regional Pain Syndrome type 1. Other studies are needed to determine their effectiveness. Copyright © 2017. Published by Elsevier SAS.

  2. [Epizootology of hemorrhagic fever with renal syndrome in the Central Chernozem Region].

    Science.gov (United States)

    Balakirev, A E; Bashkirtsev, V N; Sedova, N S; Okulova, N M; Trankvilevskiĭ, D V; Sikora, I V; Frolova, S M; Luz'ianov, E N; Shinkorenko, N N; Sapel'nikov, A F; Tkachenko, E A

    2006-01-01

    A total of 5149 small mammals belonging to 16 species were collected from the Lipetsk, Voronezh, and Belgorod regions (40 administrative districts) in 2003-2004 and examined by ELISA and IFA to detect hantavirus antigen and antibodies in the lung tissues. Hantavirus circulation was revealed in 13 species, the highest hantavirus activity being detected in field (Apodemus agrarius) and small wood (A. (S) uralensis) mice (Dobrava-Belgrad virus), bank (Clethrionomis glareolus) (Puumala virus) and common (Microtus arvalis) (Tula virus) voles. These species were frequently found to have their untypical hantaviruses, which was most commonly observed in small wood mice. It is suggested that the small wood mouse is likely to take a certain part in maintaining the circulation of Dobrava-Belgrad virus.

  3. Brain tissue- and region-specific abnormalities on volumetric MRI scans in 21 patients with Bardet-Biedl syndrome (BBS

    Directory of Open Access Journals (Sweden)

    Johnston Jennifer

    2011-07-01

    Full Text Available Abstract Background Bardet-Biedl syndrome (BBS is a heterogeneous human disorder inherited in an autosomal recessive pattern, and characterized by the primary findings of obesity, polydactyly, hypogonadism, and learning and behavioural problems. BBS mouse models have a neuroanatomical phenotype consisting of third and lateral ventriculomegaly, thinning of the cerebral cortex, and reduction in the size of the corpus striatum and hippocampus. These abnormalities raise the question of whether humans with BBS have a characteristic morphologic brain phenotype. Further, although behavioral, developmental, neurological and motor defects have been noted in patients with BBS, to date, there are limited reports of brain findings in BBS. The present study represents the largest systematic evaluation for the presence of structural brain malformations and/or progressive changes, which may contribute to these functional problems. Methods A case-control study of 21 patients, most aged 13-35 years, except for 2 patients aged 4 and 8 years, who were diagnosed with BBS by clinical criteria and genetic analysis of known BBS genes, and were evaluated by qualitative and volumetric brain MRI scans. Healthy controls were matched 3:1 by age, sex and race. Statistical analysis was performed using SAS language with SAS STAT procedures. Results All 21 patients with BBS were found to have statistically significant region- and tissue-specific patterns of brain abnormalities. There was 1 normal intracranial volume; 2 reduced white matter in all regions of the brain, but most in the occipital region; 3 preserved gray matter volume, with increased cerebral cortex volume in only the occipital lobe; 4 reduced gray matter in the subcortical regions of the brain, including the caudate, putamen and thalamus, but not in the cerebellum; and 5 increased cerebrospinal fluid volume. Conclusions There are distinct and characteristic abnormalities in tissue- and region- specific volumes

  4. Contribution of regional cerebral blood flow changes on the evaluation of neuropsychological impairment in patients with Tourette syndrome

    International Nuclear Information System (INIS)

    Borbely, K.; Kadar, K.; Nagy, D.; Szlobodnyik, C.S.; Gadoros, J.; Radics, E.; Rozsa, S.

    2002-01-01

    Aims: The literature to date has suggested that intellectual ability is normally distributed in Tourette syndrome (TS). However, patients with TS have significant discrepancies between their verbal and non verbal abilities. Specific cognitive deficits in TS include visuomotor integration problems, impaired fine motor skill, and executive dysfunction. The presence of a learning disability or cognitive deficit may lead to a greater obstacle for patients with TS than the tic disorder itself. It would be important that patients with TS will be evaluated to having neuropsychological difficulties as soon as possible. The aim of this study was to evaluate the correlation between the clinical severity and neuropsychological impairment (especially memory deficit) of patients with TS and rCBF abnormalities. Methods: The assessment included neurological, psychiatrical examination (Yale Scale [YS], staging of the severity of disease), CT/MRI, and a specific test of explicit and implicit memory (Probabilistic Classification Learning test, PCL). 99m Tc-HMPAO-SPECT studies were carried out with a standard technique for each patient. The data were analyzed visually and by a special ROIs program. RCBF data were correlated to the results of the PCL test and the YS. Results: The SPECT measurements showed significant (p 40 in the temporal medial and lateral regions, and also in the cerebellum, compared to the patients with YS<40. Also, an increase of rCBF was observed in the left striatal, temporal medial and lateral regions, compared to the contralateral homologous regions (p<0.05). The YS (disease severity) demonstrated significant (p<0.05) and strong correlation with the rCBF in the right temporal region (r= -0.83) and in the thalamus (r=-0.69). The performance in the explicit memory test showed significant (p<0.05) and strong correlation with the perfusion in both temporopolar (r=0.9) and left temporomedial region (r=0.92). Conclusion: RCBF SPECT proved to be concordant with

  5. Conservative fluid management or deresuscitation for patients with sepsis or acute respiratory distress syndrome following the resuscitation phase of critical illness: a systematic review and meta-analysis.

    Science.gov (United States)

    Silversides, Jonathan A; Major, Emmet; Ferguson, Andrew J; Mann, Emma E; McAuley, Daniel F; Marshall, John C; Blackwood, Bronagh; Fan, Eddy

    2017-02-01

    It is unknown whether a conservative approach to fluid administration or deresuscitation (active removal of fluid using diuretics or renal replacement therapy) is beneficial following haemodynamic stabilisation of critically ill patients. To evaluate the efficacy and safety of conservative or deresuscitative fluid strategies in adults and children with acute respiratory distress syndrome (ARDS), sepsis or systemic inflammatory response syndrome (SIRS) in the post-resuscitation phase of critical illness. We searched Medline, EMBASE and the Cochrane central register of controlled trials from 1980 to June 2016, and manually reviewed relevant conference proceedings from 2009 to the present. Two reviewers independently assessed search results for inclusion and undertook data extraction and quality appraisal. We included randomised trials comparing fluid regimens with differing fluid balances between groups, and observational studies investigating the relationship between fluid balance and clinical outcomes. Forty-nine studies met the inclusion criteria. Marked clinical heterogeneity was evident. In a meta-analysis of 11 randomised trials (2051 patients) using a random-effects model, we found no significant difference in mortality with conservative or deresuscitative strategies compared with a liberal strategy or usual care [pooled risk ratio (RR) 0.92, 95 % confidence interval (CI) 0.82-1.02, I 2  = 0 %]. A conservative or deresuscitative strategy resulted in increased ventilator-free days (mean difference 1.82 days, 95 % CI 0.53-3.10, I 2  = 9 %) and reduced length of ICU stay (mean difference -1.88 days, 95 % CI -0.12 to -3.64, I 2  = 75 %) compared with a liberal strategy or standard care. In adults and children with ARDS, sepsis or SIRS, a conservative or deresuscitative fluid strategy results in an increased number of ventilator-free days and a decreased length of ICU stay compared with a liberal strategy or standard care. The effect on mortality

  6. Countries, Within-Country Regions, and Multiple-Country Regions in International Management: A Functional, Institutional, and Critical Event (FICE) Perspective

    DEFF Research Database (Denmark)

    Søndergaard, Mikael; Peterson, Mark F.

    2014-01-01

    We introduce the focused issue by offering a functional, institutional and critical event or FICE perspective on the relationship between cultural boundaries and the boundaries of modern nation states (termed countries here). Our perspective draws from three kinds of theory that suggest how gover...

  7. Molecular cytogenetic analysis of Inv Dup(15) chromosomes, using probes specific for the Pradar-Willi/Angelman syndrome region: Clinical implications

    Energy Technology Data Exchange (ETDEWEB)

    Leana-Cox, J. (Univ. of Maryland School of Medicine, Baltimore, MD (United States)); Jenkins, L. (Kaiser Permanente Medical Group, San Jose, CA (United States)); Palmer, C.G.; Plattner, R. (Indiana School of Medicine, Indianapolis, IN (United States)); Sheppard, L. (Palo Verde Laboratory, Inc., Chandler, AZ (United States)); Flejter, W.L. (Univ. of Michigan, Ann Arbor, MI (United States)); Zackowski, J. (Univ. of Florida Health Science Center, Gainsville, FL (United States)); Tsien, F. (Tulane Univ. School of Medicine, New Orleans, LA (United States)); Schwartz, S. (Case Western Reserve Univ., Cleveland, OH (United States))

    1994-05-01

    Twenty-seven cases of inverted duplications of chromosome 15 (inv dup[15]) were investigated by FISH with two DNA probes specific for the Prader-Willi syndrome/Angelman syndrome (PWS/AS) region on proximal 15q. Sixteen of the marker chromosomes displayed two copies of each probe, while in the remaining 11 markers no hybridization was observed. A significant association was found between the presence of this region and an abnormal phenotype (P<.01). This is the largest study to date of inv dup(15) chromosomes, that uses molecular cytogenetic methods and is the first to report a significant association between the presence of a specific chromosomal region in such markers and an abnormal phenotype. 30 refs., 1 fig., 4 tabs.

  8. Emotion Potentiated Startle in Fragile X Syndrome

    Science.gov (United States)

    Ballinger, Elizabeth C.; Cordeiro, Lisa; Chavez, Alyssa D.; Hagerman, Randi J.; Hessl, David

    2014-01-01

    Social avoidance and anxiety are prevalent in fragile X syndrome (FXS) and are potentially mediated by the amygdala, a brain region critical for social behavior. Unfortunately, functional brain resonance imaging investigation of the amygdala in FXS is limited by the difficulties experienced by intellectually impaired and anxious participants. We…

  9. Coral diversity and the severity of disease outbreaks: a cross-regional comparison of Acropora white syndrome in a species-rich region (American Samoa) with a species-poor region (Northwestern Hawaiian Islands).

    Science.gov (United States)

    Aeby, G.S.; Bourne, D.G.; Wilson, B.; Work, Thierry M.

    2011-01-01

    The dynamics of the coral disease, Acropora white syndrome (AWS), was directly compared on reefs in the species-poor region of the Northwestern Hawaiian Islands (NWHI) and the species-rich region of American Samoa (AS) with results suggesting that biodiversity, which can affect the abundance of susceptible hosts, is important in influencing the impacts of coral disease outbreaks. The diversity-disease hypothesis predicts that decreased host species diversity should result in increased disease severity of specialist pathogens. We found that AWS was more prevalent and had a higher incidence within the NWHI as compared to AS. Individual Acropora colonies affected by AWS showed high mortality in both regions, but case fatality rate and disease severity was higher in the NWHI. The site within the NWHI had a monospecific stand of A. cytherea; a species that is highly susceptible to AWS. Once AWS entered the site, it spread easily amongst the abundant susceptible hosts. The site within AS contained numerous Acropora species, which differed in their apparent susceptibility to infection and disease severity, which in turn reduced disease spread. Manipulative studies showed AWS was transmissible through direct contact in three Acropora species. These results will help managers predict and respond to disease outbreaks.

  10. The Effect of Kinesio Taping on Anterior Knee Pain Consistent With Patellofemoral Pain Syndrome: A Critically Appraised Topic.

    Science.gov (United States)

    Campbell, Samantha A; Valier, Alison R

    2016-08-01

    Patellofemoral pain syndrome (PFPS) occurs in 25% of adolescents and adults and is the leading cause of knee pain in runners. Pain is commonly felt when ascending or descending stairs, deep squatting, kneeling, or running. There is no consensus on the etiology of this condition, but insufficient hip strength, malalignment of the lower extremity, hyperpronation of the foot, and patellar incongruence have been suggested. Common treatments of PFPS include strengthening of quadriceps and hip muscles, McConnell taping, electrical stimulation, and foot orthotics, but effectiveness of these treatments is inconclusive. Kinesio Taping is an alternative taping technique for musculoskeletal injuries including PFPS. Although research suggests that Kinesio Taping decreases pain and improves range of motion for some musculoskeletal injuries, its effectiveness in decreasing pain in patients with PFPS in unknown. Furthermore, Kinesio Taping has not been compared with other taping techniques including McConnell taping. Focused Clinical Question: For patients with anterior knee pain consistent with PFPS, does treatment with Kinesio Taping decrease pain more than McConnell taping or no tape at all?

  11. Psychosis After Switch in Opioid Maintenance Agonist and Risperidone-Induced Pisa Syndrome: Two Critical Incidents in Dual Diagnosis Treatment.

    Science.gov (United States)

    Sutter, Manuel; Walter, Marc; Dürsteler, Kenneth M; Strasser, Johannes; Vogel, Marc

    2017-01-01

    Dual diagnosis commonly occurs among patients with an opioid use disorder. Treatment is ideally performed in an integrated fashion. We present a case that illustrates the complex and challenging psychiatric and medical therapy of such patients in the light of the literature. We report on a 56-year-old patient with schizophrenia and opioid dependence who experienced both risperidone-induced Pisa syndrome and, 3 years later, acute psychosis after switching the opioid substitution medication from methadone to slow-release oral morphine due to QT prolongation. With the current availability of a diversity of substitution opioids in Switzerland (methadone, buprenorphine, diacetylmorphine, sustained-release oral morphine), studies on differential effectiveness of these agents in opioid-dependent subpopulations with selective comorbidity profiles are desirable. The same is true for further investigation of the involvement of the opioid receptor system in schizophrenia. In clinical practice, any alteration of opioid medication in patients with dual diagnosis and a history of schizophrenia should be accompanied by close observation for psychotic symptoms.

  12. Racial and ethnic differences in the prevalence of metabolic syndrome and its components of metabolic syndrome in women with polycystic ovary syndrome: a regional cross-sectional study.

    Science.gov (United States)

    Chan, Jessica L; Kar, Sujata; Vanky, Eszter; Morin-Papunen, Laure; Piltonen, Terhi; Puurunen, Johanna; Tapanainen, Juha S; Maciel, Gustavo Arantes Rosa; Hayashida, Sylvia Asaka Yamashita; Soares, Jose Maria; Baracat, Edmund Chada; Mellembakken, Jan Roar; Dokras, Anuja

    2017-08-01

    Polycystic ovary syndrome is a heterogeneous disorder and its presentation varies with race and ethnicity. Reproductive-age women with polycystic ovary syndrome are at increased risk of metabolic syndrome; however, it is not clear if prevalence of metabolic syndrome and clustering of its components differs based on race and ethnicity. Moreover, the majority of these women do not undergo routine screening for metabolic syndrome. We sought to compare the prevalence of metabolic syndrome and clustering of its components in women with polycystic ovary syndrome in the United States with women in India, Brazil, Finland, and Norway. This is a cross-sectional study performed in 1089 women with polycystic ovary syndrome from 1999 through 2016 in 5 outpatient clinics in the United States, India, Brazil, Finland, and Norway. Polycystic ovary syndrome was defined by the Rotterdam criteria. Main outcome measures were: metabolic syndrome prevalence, blood pressure, body mass index, fasting high-density lipoprotein cholesterol, fasting triglycerides, and fasting glucose. Data from all sites were reevaluated for appropriate application of diagnostic criteria for polycystic ovary syndrome, identification of polycystic ovary syndrome phenotype, and complete metabolic workup. The US White women with polycystic ovary syndrome were used as the referent group. Logistic regression models were used to evaluate associations between race and metabolic syndrome prevalence and its components and to adjust for potential confounders, including age and body mass index. The median age of the entire cohort was 28 years. Women from India had the highest mean Ferriman-Gallwey score for clinical hyperandrogenism (15.6 ± 6.5, P polycystic ovary syndrome, there are significant differences in the prevalence of metabolic syndrome and clustering of its components based on race and ethnicity, which may reflect contributions from both racial and environmental factors. Our findings indicate the prevalence

  13. A search for activation of C-nociceptors by sympathetic fibers in complex regional pain syndrome

    Science.gov (United States)

    Campero, Mario; Bostock, Hugh; Baumann, Thomas K.; Ochoa, José L.

    2010-01-01

    Objective Although the term ‘reflex sympathetic dystrophy’ has been replaced by ‘complex regional pain syndrome’ (CRPS) type I, there remains a widespread presumption that the sympathetic nervous system is actively involved in mediating chronic neuropathic pain [“sympathetically maintained pain” (SMP)], even in the absence of detectable neuropathophysiology. Methods We have used microneurography to evaluate possible electrophysiological interactions in 24 patients diagnosed with CRPS I (n=13), or CRPS II (n=11) by simultaneously recording from single identified sympathetic efferent fibers and C nociceptors, while provoking sympathetic neural discharges in cutaneous nerves. Results We assessed potential effects of sympathetic activity upon 35 polymodal nociceptors and 19 mechano-insensitive nociceptors, recorded in CRPS I (26 nociceptors) and CRPS II patients (28 nociceptors). No evidence of activation of nociceptors related to sympathetic discharge was found, although nociceptors in 6 CRPS II patients exhibited unrelated spontaneous pathological nerve impulse activity. Conclusion We conclude that activation of nociceptors by sympathetic efferent discharges is not a cardinal pathogenic event in either CRPS I or CRPS II patients. Significance This study shows that sympathetic-nociceptor interactions, if they exist in patients communicating chronic neuropathic pain, must be the exception. PMID:20359942

  14. The metabolic syndrome identifies a heterogeneous group of metabolic component combinations in the Asia-Pacific region.

    Science.gov (United States)

    Lee, Crystal Man Ying; Huxley, Rachel R; Woodward, Mark; Zimmet, Paul; Shaw, Jonathan; Cho, Nam H; Kim, Hyung Rae; Viali, Satu; Tominaga, Makoto; Vistisen, Dorte; Borch-Johnsen, Knut; Colagiuri, Stephen

    2008-09-01

    To compare the prevalence of metabolic syndrome (MetS) by combinations of MetS components derived from the National Cholesterol Education Program Adult Treatment Panel III (ATPIII) and International Diabetes Federation (IDF) definitions. Four studies with ethnically distinct populations from the Asia-Pacific region were selected from the DETECT-2 study database. The prevalences of combinations of MetS components using the modified ATPIII (modATPIII) and IDF MetS definitions were compared between sexes and across populations. A total of 22,952 participants from Australia, Japan, Korea and Samoa were included. The age-adjusted prevalence of modATPIII MetS varied from 9.4 to 35.8% in men and 10.3 to 57.2% in women; results for IDF were generally higher. Prevalences of the 16 possible MetS component combinations from the modATPIII definition that result in a diagnosis of MetS ranged from 0 to 12.7%. Of those with IDF-defined abdominal obesity, the prevalences of the 11 IDF-defined MetS component combinations ranged from 0.2 to 18.3%. The large variation in the prevalence of possible MetS component combinations to diagnose MetS may explain the different risk of cardiovascular outcomes associated with MetS in different populations, especially since particular combinations of MetS components are associated with different risk of cardiovascular disease.

  15. National and Regional Representativeness of Hospital Emergency Department Visit Data in the National Syndromic Surveillance Program, United States, 2014.

    Science.gov (United States)

    Coates, Ralph J; Pérez, Alejandro; Baer, Atar; Zhou, Hong; English, Roseanne; Coletta, Michael; Dey, Achintya

    2016-08-01

    We examined the representativeness of the nonfederal hospital emergency department (ED) visit data in the National Syndromic Surveillance Program (NSSP). We used the 2012 American Hospital Association Annual Survey Database, other databases, and information from state and local health departments participating in the NSSP about which hospitals submitted data to the NSSP in October 2014. We compared ED visits for hospitals submitting data with all ED visits in all 50 states and Washington, DC. Approximately 60.4 million of 134.6 million ED visits nationwide (~45%) were reported to have been submitted to the NSSP. ED visits in 5 of 10 regions and the majority of the states were substantially underrepresented in the NSSP. The NSSP ED visits were similar to national ED visits in terms of many of the characteristics of hospitals and their service areas. However, visits in hospitals with the fewest annual ED visits, in rural trauma centers, and in hospitals serving populations with high percentages of Hispanics and Asians were underrepresented. NSSP nonfederal hospital ED visit data were representative for many hospital characteristics and in some geographic areas but were not very representative nationally and in many locations. Representativeness could be improved by increasing participation in more states and among specific types of hospitals. (Disaster Med Public Health Preparedness. 2016;10:562-569).

  16. A disturbance in sensory processing on the affected side of the body increases limb pain in complex regional pain syndrome.

    Science.gov (United States)

    Drummond, Peter D; Finch, Philip M

    2014-04-01

    The aim of this study was to determine whether a central disturbance in somatosensory processing contributes to limb pain in complex regional pain syndrome (CRPS). In 37 patients with CRPS, the effect of cooling the ipsilateral forehead on pain in the affected limb was compared with the effect of cooling the contralateral forehead. In addition, symptoms associated with cold-evoked limb pain were explored. Limb pain generally increased when the ipsilateral side of the forehead was cooled but did not change when the contralateral side of the forehead was cooled. Increases were greatest in patients with heightened sensitivity to cold, brushing, and pressure-pain in the ipsilateral forehead, in patients with heightened sensitivity to pressure-pain in the limbs, and in patients with chronic symptoms. In contrast, sensitivity to light touch was diminished in the CRPS-affected limb of patients whose limb pain remained unchanged or decreased during ipsilateral forehead cooling. These preliminary findings suggest that a central disturbance in sensory processing and pain modulation, which extends beyond the affected limb to the ipsilateral forehead, contributes to symptoms in a subgroup of patients with CRPS.

  17. Antiallodynic Effects of Bee Venom in an Animal Model of Complex Regional Pain Syndrome Type 1 (CRPS-I).

    Science.gov (United States)

    Lee, Sung Hyun; Lee, Jae Min; Kim, Yun Hong; Choi, Jung Hyun; Jeon, Seung Hwan; Kim, Dong Kyu; Jeong, Hyeon Do; Lee, You Jung; Park, Hue Jung

    2017-09-15

    Neuropathic pain in a chronic post-ischaemic pain (CPIP) model mimics the symptoms of complex regional pain syndrome type I (CRPS I). The administration of bee venom (BV) has been utilized in Eastern medicine to treat chronic inflammatory diseases accompanying pain. However, the analgesic effect of BV in a CPIP model remains unknown. The application of a tight-fitting O-ring around the left ankle for a period of 3 h generated CPIP in C57/Bl6 male adult mice. BV (1 mg/kg ; 1, 2, and 3 times) was administered into the SC layer of the hind paw, and the antiallodynic effects were investigated using the von Frey test and by measuring the expression of neurokinin type 1 (NK-1) receptors in dorsal root ganglia (DRG). The administration of BV dose-dependently reduced the pain withdrawal threshold to mechanical stimuli compared with the pre-administration value and with that of the control group. After the development of the CPIP model, the expression of NK-1 receptors in DRG increased and then decreased following the administration of BV. SC administration of BV results in the attenuation of allodynia in a mouse model of CPIP. The antiallodynic effect was objectively proven through a reduction in the increased expression of NK-1 receptors in DRG.

  18. IASP diagnostic criteria for complex regional pain syndrome: a preliminary empirical validation study. International Association for the Study of Pain.

    Science.gov (United States)

    Galer, B S; Bruehl, S; Harden, R N

    1998-03-01

    To assess the ability of the International Association for the Study of Pain Complex Regional Pain Syndrome (CRPS) diagnostic criteria and associated features to discriminate between CRPS patients and patients with painful diabetic neuropathy. Prospective assessment of signs and symptoms in a series of CRPS and diabetic neuropathy patients. University of Washington Multidisciplinary Pain Center. A consecutive series of 18 CRPS patients and 30 diabetic neuropathy patients. Patients completed a 10-item patient history questionnaire assessing symptoms of CRPS prior to medical evaluation. The evaluating physician completed a 10-item patient examination questionnaire assessing objective signs of CRPS. The analyses conducted were designed to test the ability of CRPS signs and symptoms and associated features to discriminate between CRPS patients and diabetic neuropathy patients. Data analysis suggested that CRPS decision rules may lead to overdiagnosis of the disorder. Diagnosis based on self-reported symptoms can be diagnostically useful in some circumstances. The addition of trophic tissue changes, range of motion changes, and "burning" quality of pain did not improve diagnostic accuracy, but the addition of motor neglect signs did. Test of a CRPS scoring system resulted in improved accuracy relative to current criteria and decision rules. Poorly understood disorders lacking prototypical signs/symptoms and diagnostic laboratory testing must rely on the development of reliable diagnostic guidelines. The results of this study should assist in the further refinement of the CRPS diagnostic criteria.

  19. Deficiency of the vestibular spine in atrioventricular septal defects in human fetuses with down syndrome

    NARCIS (Netherlands)

    Blom, Nico A.; Ottenkamp, Jaap; Wenink, Arnold G. C.; Gittenberger-de Groot, Adriana C.

    2003-01-01

    Data on the morphogenesis of atrioventricular septal defect (AVSD) in Down syndrome are lacking to support molecular studies on Down syndrome heart critical region. Therefore, we studied the development of complete AVSD in human embryos and fetuses with trisomy 21 using 3-dimensional graphic

  20. Effectiveness of physical exam signs for early detection of critical illness in pediatric systemic inflammatory response syndrome.

    Science.gov (United States)

    Scott, Halden F; Donoghue, Aaron J; Gaieski, David F; Marchese, Ronald F; Mistry, Rakesh D

    2014-11-19

    Early detection of compensated pediatric septic shock requires diagnostic tests that are sensitive and specific. Four physical exam signs are recommended for detecting pediatric septic shock prior to hypotension (cold extremities, mental status, capillary refill, peripheral pulse quality); this study tested their ability to detect patients who develop organ dysfunction among a cohort of undifferentiated pediatric systemic inflammatory response syndrome patients. A prospective cohort of 239 pediatric emergency department patients physical exams on a standardized form. Abstraction of the medical record determined outcomes including organ dysfunction, intensive care unit stay, serious bacterial infection, and therapies. Organ dysfunction occurred in 13/239 (5.4%) patients. Presence of at least one sign was significantly associated with organ dysfunction (Relative Risk: 2.71, 95% CI: 1.05-6.99), and presence of at least two signs had a Relative Risk = 4.98 (95% CI: 1.82-13.58). The sensitivity of exam findings ranged from 8-54%, specificity from 84-98%. Signs were associated with increased risk of intensive care and fluid bolus, but not with serious bacterial infection, intravenous antibiotics or admission. Altered mental status and peripheral pulse quality were significantly associated with organ dysfunction, while abnormal capillary refill time and presence of cold, mottled extremities were not. Certain recommended physical exam signs were associated with increased risk of organ dysfunction, a rare outcome in this undifferentiated pediatric population with fever and tachycardia. Sensitivity was low, while specificity was high. Additional research into optimally sensitive and specific diagnostic strategies is needed.

  1. Focus on metabolic and nutritional correlates of polycystic ovary syndrome and update on nutritional management of these critical phenomena.

    Science.gov (United States)

    Rondanelli, Mariangela; Perna, Simone; Faliva, Milena; Monteferrario, Francesca; Repaci, Erica; Allieri, Francesca

    2014-12-01

    Polycystic ovary syndrome (PCOS) is associated with numerous metabolic morbidities (insulin resistance (IR), central obesity) and various nutritional abnormalities (vitamin D deficit, mineral milieu alterations, omega6/omega3 PUFA ratio unbalance). We performed a systematic literature review to evaluate the till-now evidence regarding: (1) the metabolic and nutritional correlates of PCOS; (2) the optimum diet therapy for the treatment of these abnormalities. This review included 127 eligible studies. In addition to the well-recognized link between PCOS and IR, the recent literature underlines that in PCOS there is an unbalance in adipokines (adiponectin, leptin, visfatin) production and in omega6/omega3 PUFA ratio. Given the detrimental effect of overweight on these metabolic abnormalities, a change in the lifestyle must be the cornerstone in the treatment of PCOS patients. The optimum diet therapy for the PCOS treatment must aim at achieving specific metabolic goals, such as IR improvement, adipokines secretion and reproductive function. These goals must be reached through: accession of the patient to hypocaloric dietary program aimed at achieving and/or maintaining body weight; limiting the consumption of sugar and refined carbohydrates, preferring those with lower glycemic index; dividing the food intake in small and frequent meals, with high caloric intake at breakfast; increasing their intake of fish (4 times/week) or taking omega3 PUFA supplements; taking Vitamin D and chromium supplementation, if there are low serum levels. Lifestyle intervention remains the optimal treatment strategy for PCOS women. A relatively small weight loss (5 %) can improve IR, hyperandrogenism, menstrual function, fertility.

  2. Knowledge and attitude towards the Middle East respiratory syndrome coronavirus among healthcare personnel in the southern region of Saudi Arabia.

    Science.gov (United States)

    Abbag, Huda F; El-Mekki, Awad Ahmed; Al Bshabshe, Ali Aobaid Ali; Mahfouz, Ahmed A; Al-Dosry, Ahasen A; Mirdad, Rasha T; AlKhttabi, Nora F; Abbag, Lubna F

    2018-03-07

    Middle East respiratory syndrome coronavirus (MERS-CoV) belongs to the family Coronaviridae, and is named for the crown-like spikes on its surface. The clinical presentation of MERS-CoV infection ranges from asymptomatic to very severe disease, and the classical presentation includes fever, cough chills, sore throat, myalgia, and arthralgia. A cross-sectional study of 339 healthcare personnel was conducted over an 8-month period in the Aseer region of Saudi Arabia using a structured survey that included demographic information and questions testing participant's knowledge. Approximately two-thirds of the respondents properly identified the causative agent of MERS-CoV as an RNA virus (66.4%, n=225) that is enveloped (68.1%, n=231). On the other hand, few respondents identified the proper number of strains or the genus (16.5% and 17.4%, respectively). More than half of the study sample identified the disease as zoonotic (57.2%, n=194). Similarly, 89.1% (n=302) identified that camels and bats are prone to infection with coronaviruses. Only 23.9% (n=81) properly identified March through May as the season with the highest transmission rate. There was a massive lack of adequate knowledge regarding prevalence of antibodies. Only 18.3% (n=62) of respondents identified PCR as the proper diagnostic confirmatory test for MERS-CoV infection. Regarding MERS-CoV clinical features, 76.4% (n=259) recognized the presence of sub-clinical infection, 64.7% (n=218) indicated that cases should be immediately isolated, and 46.9% (n=159) identified the main cause of mortality as respiratory failure. There is limited microbiological and virological knowledge of MERS-CoV infection among healthcare personnel in the southern region of Saudi Arabia, although the clinical aspects are known. Copyright © 2018. Published by Elsevier Ltd.

  3. Kabuki syndrome is not caused by a microdeletion in the DiGeorge/velocardiofacial chromosomal region within 22q11.2

    Energy Technology Data Exchange (ETDEWEB)

    Li, M.; Zackai, E.H.; Kaplan, P.; Driscoll, D.A. [Univ. of Pennsylvania Medical Center, Philadelphia, PA (United States); Niikawa, Norio [Nagasaki Univ. School of Medicine (Japan)

    1996-10-16

    Kabuki syndrome (KS) or Niikawa-Kuroki syndrome is a sporadic disorder characterized by postnatal growth retardation, developmental delay, mild to moderate retardation, and a characteristic facial appearance. Cardiovascular defects, clefts of the lip, palate, or both, and musculoskeletal abnormalities occur in about 50% of patients with KS. The cause of this multiple congenital anomaly syndrome is unknown, and investigators have speculated that KS is a contiguous gene-deletion syndrome. Based on the presence of congenital heart defects in patients with KS, it was suggested that this disorder might share a common cause with the 22q11 deletion syndromes. A preliminary study of 2 patients with KS failed to detect a deletion within 22q11. We report the results of fluorescence in situ hybridization with cosmid probes for loci D22S75 (N25) and D22S259 (1132) within the DiGeorge chromosomal region (DGCR) on metaphase spreads from an additional 5 patients, 2 non-Japanese and 3 Japanese, with KS. None of the 5 had deletions at either locus. It is unlikely that KS is caused by a deletion within 22q11. 16 refs.

  4. Critical slowing down of polar nano regions ensemble in Gd3+-substituted PbMg1/3Nb2/3O3 ceramics

    Science.gov (United States)

    Pandey, Adityanarayan H.; Gupta, S. M.; Lalla, N. P.; Nigam, A. K.

    2017-07-01

    Investigations on Gd-substituted lead magnesium niobate (Pb1-xGdxMg(1+x)/3Nb(2-x)/3O3; varying x = 0.01-0.1) ceramics have revealed critical slowing down of the polar nano regions (PNRs) ensemble into a "super-dipolar glass state" for higher Gd-substitution x ≥ 0.05. Low temperature electric field induced polarization switching study (P-E) has revealed a sharp decrease in the remanent polarization up to x = 0.03, which strengthen the critical slowing down of polar nano-domains dynamics, suggesting a reduction in the correlation between or within polar nano regions (PNRs) leading to a reduction in its size. Bright field imaging by using transmission electron microscope has also confirmed the reduction of the size of polar nano regions with increasing "x." Selected area electron diffraction pattern along ⟨110⟩ unit axis has revealed enhancement in intensity of the superlattice reflections spot at ½ ½ ½ along ⟨111⟩ unit axis with increasing "x," which is associated with the enhancement of chemical ordered regions and correlate well to enhancement in the degree of diffuseness parameters "δA" determined from fitting of the temperature dependent dielectric constant ɛ(T) plot above the dielectric maximum peak (ɛmax). The enhanced "δA" for x ≥ 0.05 is due to additional disorder created by the Gd-ions substitution at the Mg-site, which is consistent with the phase and microstructural analysis. Fitting of frequency dependent Tm (temperature of ɛmax) to the power law of critical dynamic has revealed realistic pre-factor fitting parameters for x ≥ 0.05 suggesting critical slowing down of the polar nano-domains dynamics ensemble resulting in super-dipolar glass state.

  5. Reversible Stress Cardiomyopathy Presenting as Acute Coronary Syndrome with Elevated Troponin in the Absence of Regional Wall Motion Abnormalities: A Forme Fruste of Stress Cardiomyopathy?

    Directory of Open Access Journals (Sweden)

    Mahesh Anantha Narayanan

    2014-01-01

    Full Text Available We present a case of reversible stress cardiomyopathy in a surgical patient, described here as a forme fruste due to its atypical features. It is important to recognize such unusual presentation of stress cardiomyopathy that mimics acute coronary syndrome. Stress cardiomyopathy commonly presents as acute coronary syndrome and is characterized by typical or atypical variants of regional wall motion abnormalities. We report a 60-year-old Caucasian male with reversible stress cardiomyopathy following a sternal fracture fixation. Although the patient had several typical features of stress cardiomyopathy including physical stress, ST-segment elevation, elevated cardiac biomarkers and normal epicardial coronaries, there were few features that were atypical, including unusual age, gender, absence of regional wall motion abnormalities, high lateral ST elevation, and high troponin-ejection fraction product. In conclusion, this could represent a forme fruste of stress cardiomyopathy.

  6. Physical mapping of the Bloom syndrome region by the identification of YAC and P1 clones from human chromosome 15 band q26.1

    Energy Technology Data Exchange (ETDEWEB)

    Straughen, J.; Groden, J. [Univ. of Cincinnati College of Medicine, OH (United States); Ciocci, S. [New York Blood Center, NY (United States)] [and others

    1996-07-01

    The gene for Bloom syndrome (BLM) has been mapped to human chromosome 15 band q26.1 by homozygosity mapping. Further refinement of the location of BLM has relied upon linkage-disequilibrium mapping and somatic intragenic recombination. In combination with these mapping approaches and to identify novel DNA markers and probes for the BLM candidate region, a contiguous representation of the 2-Mb region that contains the BLM gene was generated and is presented here. YAC and P1 clones from the region have been identified and ordered by using previously available genetic markers in the region along with newly developed sequence-tagged sites from radiation-restriction map of the 2-Mb region that allowed estimation of the distance between polymorphic microsatellite loci is also reported. This map and the DNA markers derived from it were instrumental in the recent identification of the BLM gene. 25 refs., 3 figs., 3 tabs.

  7. Bat white-nose syndrome: A real-time TaqMan polymerase chain reaction test targeting the intergenic spacer region of Geomyces destructans

    Science.gov (United States)

    Laura K Muller; Jeffrey M. Lorch; Daniel L. Lindner; Michael O' Connor; Andrea Gargas; David S. Blehert

    2013-01-01

    The fungus Geomyces destructans is the causative agent of white-nose syndrome (WNS), a disease that has killed millions of North American hibernating bats. We describe a real-time TaqMan PCR test that detects DNA from G. destructans by targeting a portion of the multicopy intergenic spacer region of the rRNA gene complex. The...

  8. Physical mapping studies at D15S10: Implications for candidate gene identification in the Angelman syndrome/Prader-Willi syndrome chromosome region of 15q11-q13

    Energy Technology Data Exchange (ETDEWEB)

    Woodage, T.; Lindeman, R.; Deng, Z.M.; Fimmel, A.; Trent, R.J. (Royal Prince Alfred Hospital, New South Wales (Australia)); Smith, A. (Children' s Hospital, New South Wales (Australia))

    1994-01-01

    The Angelman syndrome (AS) and Prader-Willi syndrome (PWS) loci have been mapped to chromosome 15q11-q13. Chromosomal deletions of differing parental origin in the two syndromes have been interpreted as being due to genetic imprinting. Molecular analysis of patients with varying deletions has localized the AS locus to the interval between D15S113 and GABRB3 and the PWS locus between D15S13 and D15S113. In the present study, DNA cloning and physical mapping techniques have been used to characterize the AS/PWS chromosome region in the vicinity of D15S10, a locus that is telomeric to D15S113 and centromeric to GABRB3. A CpG island near TD3-21 at D15S10 has been cloned, allowing the identification of a widely expressed 4.5-kb transcript and providing a novel DNA marker, OP3, at this locus. OP3 and TD3-21 have been used to construct a long-range physical map extending over approximately 2800 kb. Clusters of rare-cutting restriction sites on this map locate four other CpG islands. Since these CpG islands lie within the minimum deletion intervals for AS and PWS, they mark the possible locations of candidate genes for the two syndromes. 13 refs., 2 figs.

  9. Síndrome doloroso regional complejo tipo 1: Un diagnóstico elusivo Complex regional pain syndrome type 1: An elusive diagnosis

    Directory of Open Access Journals (Sweden)

    Roberto M. Forden Jones

    2009-10-01

    Full Text Available El síndrome doloroso regional complejo tipo 1 es una afección que puede complicar traumatismos, en especial de los miembros. Es infradiagnosticado y potencialmente muy incapacitante. El diagnóstico se realiza reuniendo una serie de criterios clínicos. No existe un método de diagnóstico complementario que pueda considerarse patrón de oro. Su tratamiento debe ser multidisciplinario (fármacos, terapia física, terapia psicológica y en casos seleccionados, procedimientos invasivos. Se han comunicado resultados favorables con múltiples tratamientos farmacológicos, siendo la terapia con corticosteroides una de las que han alcanzado altos niveles de evidencia a favor de su utilidad. Presentamos el caso de un paciente masculino de 47 años de edad que fue internado en nuestro servicio por dolor intenso en su extremidad inferior derecha de características neuropáticas de larga evolución. Había realizado múltiples consultas previas y cumplido diversos tratamientos. Se le realizó centellograma óseo de tres fases con 99Tc que resultó compatible con el diagnóstico propuesto. Se trató con metilprednisona 60 mg/día con disminución progresiva hasta completar 15 días, obteniéndose una mejoría significativa de la sintomatología. Se le otorgó el alta hospitalaria para proseguir la rehabilitación ambulatoria.Complex regional pain syndrome type 1 is a painful disorder that may complicate a traumatic lesion especially in extremities. It is infradiagnosed and potentially very disabling. Its diagnosis consists of a few clinical criteria. It does not exist a complementary diagnostic study which can be considered as gold standard. Its treatment must be multidisciplinary (e.g. medicines, physical therapy, psychological therapy and, in selected cases, invasive procedures. There have been communicated some favorable results using multiple pharmacological treatments in which corticosteroid therapy was among the ones that have reached highest

  10. High-Frequency Repetitive Sensory Stimulation as Intervention to Improve Sensory Loss in Patients with Complex Regional Pain Syndrome I.

    Science.gov (United States)

    David, Marianne; Dinse, Hubert R; Mainka, Tina; Tegenthoff, Martin; Maier, Christoph

    2015-01-01

    Achieving perceptual gains in healthy individuals or facilitating rehabilitation in patients is generally considered to require intense training to engage neuronal plasticity mechanisms. Recent work, however, suggested that beneficial outcome similar to training can be effectively acquired by a complementary approach in which the learning occurs in response to mere exposure to repetitive sensory stimulation (rSS). For example, high-frequency repetitive sensory stimulation (HF-rSS) enhances tactile performance and induces cortical reorganization in healthy subjects and patients after stroke. Patients with complex regional pain syndrome (CRPS) show impaired tactile performance associated with shrinkage of cortical maps. We here investigated the feasibility and efficacy of HF-rSS, and low-frequency rSS (LF-rSS) to enhance tactile performance and reduce pain intensity in 20 patients with CRPS type I. Intermittent high- or low-frequency electrical stimuli were applied for 45 min/day to all fingertips of the affected hand for 5 days. Main outcome measures were spatial two-point-discrimination thresholds and mechanical detection thresholds measured on the tip of the index finger bilaterally. Secondary endpoint was current pain intensity. All measures were assessed before and on day 5 after the last stimulation session. HF-rSS applied in 16 patients improved tactile discrimination on the affected hand significantly without changes contralaterally. Current pain intensity remained unchanged on average, but decreased in four patients by ≥30%. This limited pain relief might be due to the short stimulation period of 5 days only. In contrast, after LF-rSS, tactile discrimination was impaired in all four patients, while detection thresholds and pain were not affected. Our data suggest that HF-rSS could be used as a novel approach in CRPS treatment to improve sensory loss. Longer treatment periods might be required to induce consistent pain relief.

  11. Testing the validity of preventing chronic regional pain syndrome with vitamin C after distal radius fracture. [Corrected].

    Science.gov (United States)

    Malay, Sunitha; Chung, Kevin C

    2014-11-01

    The American Academy of Orthopaedic Surgeons recommends the use of vitamin C to prevent complex regional pain syndrome (CRPS) for patients with distal radius fractures (DRFs). We hypothesized that the evidence for supporting this recommendation is weak, based on epidemiological principles of association and causality. The specific aim of this project was to test the validity of this recommendation. We conducted a literature review to retrieve articles reporting on the use of vitamin C to prevent CRPS. Data collected included sample size, study design type, dose of vitamin C used, and outcome measures of association expressed as relative risk (RR) and odds ratio. We then applied Hill criteria to evaluate the relationship between vitamin C and CRPS. We obtained 225 articles from the database search. After the exclusion of duplicates, unrelated articles, editorial letters, and commentaries, we found 4 articles and 1 systematic review relevant to our topic. Six of the 9 Hill criteria were met, and an earlier meta-analysis showed a quantified reduction in CRPS risk. However, criteria like biological plausibility, specificity, and coherence were not met. The number of causal/association criteria met was adequate to support the scientific premise of the effect of vitamin C in preventing CRPS after DRF. Furthermore, vitamin C administration is of relatively low cost and has few complications unless administered in large doses. Owing to sufficient epidemiological evidence availability, the American Academy of Orthopaedic Surgeons recommendation of vitamin C to prevent CRPS has practical merit. Therapeutic II. Copyright © 2014 American Society for Surgery of the Hand. Published by Elsevier Inc. All rights reserved.

  12. Diagnostic Performance of Three Phase Bone Scan for Complex Regional Pain Syndrome Type 1 with Optimally Modified Image Criteria

    Energy Technology Data Exchange (ETDEWEB)

    Kwon, Hyun Woo; Paeng, Jin Chul; Nahm, Francins Sahngun; Kim, Seog Gyun; Zehra, Tanzeel; Oh, So Won; Lee, Hyo Sang; Kang, Keon Wook; Chung, June Key; Lee, Myung Chul; Lee, Dong Soo [Seoul National Univ. College of Medicine, Seoul (Korea, Republic of)

    2011-12-15

    Although the three phase bone scan (TBPS) is one of the widely used imaging studies for diagnosing complex regional pain syndrome type 1 (CRPS 1), there is some controversy regarding the TPBS image criteria for CRPS 1. In this study, we modified the image criteria using image pattern and quantitative analysis in the patients diagnosed using the most recent consensus clinical diagnostic criteria. The study included 140 patients with suspected CRPS 1 (CRPS 1, n=79; non CRPS, n=61; mean age 39{+-}15 years) who underwent TPBS. The clinical diagnostic criteria for CRPS 1 revised by the Budapest consensus group were used for confirmative diagnosis. Patients were classified according to flow/pool and delayed uptake (DU) image patterns, and the time interval between the initiating event and TPBS (TI{sup eventscan)}. Quantitative analysis for lesion to contralateral ratio (LCR) was performed. Modified TPBS image criteria were created and evaluated for optimal diagnostic performance. Both increased and decreased periarticular DU were significant image findings for CRPS 1 (CRPS 1 positive rate=73% in the increased DU group, 75% in the decreased DU group). The TI{sup eventscand}id not differ significantly between the different image pattern groups. Quantitative analysis revealed an LCR of 1.43 was the optimal cutoff value for CRPS 1 and diagnostic performance was significantly improved in the increased DU group (area under the curve=0.732). Given the modified image criteria, the sensitivity and specificity of TPBS for diagnosing CRPS 1 were 80% and 72%, respectively. Optimally modified TPBS image criteria for CRPS 1 were suggested using image pattern and quantitative analysis. With the criteria, TPBS is an effective imaging study for CRPS 1 even with the most recent consensus clinical diagnostic criteria.

  13. Recommendations for a first Core Outcome Measurement set for complex regional PAin syndrome Clinical sTudies (COMPACT).

    Science.gov (United States)

    Grieve, Sharon; Perez, Roberto S G M; Birklein, Frank; Brunner, Florian; Bruehl, Stephen; Harden, R Norman; Packham, Tara; Gobeil, Francois; Haigh, Richard; Holly, Janet; Terkelsen, Astrid; Davies, Lindsay; Lewis, Jennifer; Thomassen, Ilona; Connett, Robyn; Worth, Tina; Vatine, Jean-Jacques; McCabe, Candida S

    2017-06-01

    Complex regional pain syndrome (CRPS) is a persistent pain condition that remains incompletely understood and challenging to treat. Historically, a wide range of different outcome measures have been used to capture the multidimensional nature of CRPS. This has been a significant limiting factor in the advancement of our understanding of the mechanisms and management of CRPS. In 2013, an international consortium of patients, clinicians, researchers, and industry representatives was established, to develop and agree on a minimum core set of standardised outcome measures for use in future CRPS clinical research, including but not limited to clinical trials within adult populations. The development of a core measurement set was informed through workshops and supplementary work, using an iterative consensus process. "What is the clinical presentation and course of CRPS, and what factors influence it?" was agreed as the most pertinent research question that our standardised set of patient-reported outcome measures should be selected to answer. The domains encompassing the key concepts necessary to answer the research question were agreed as follows: pain, disease severity, participation and physical function, emotional and psychological function, self-efficacy, catastrophizing, and patient's global impression of change. The final core measurement set included the optimum generic or condition-specific patient-reported questionnaire outcome measures, which captured the essence of each domain, and 1 clinician-reported outcome measure to capture the degree of severity of CRPS. The next step is to test the feasibility and acceptability of collecting outcome measure data using the core measurement set in the CRPS population internationally.

  14. Diagnostic Performance of Three Phase Bone Scan for Complex Regional Pain Syndrome Type 1 with Optimally Modified Image Criteria

    International Nuclear Information System (INIS)

    Kwon, Hyun Woo; Paeng, Jin Chul; Nahm, Francins Sahngun; Kim, Seog Gyun; Zehra, Tanzeel; Oh, So Won; Lee, Hyo Sang; Kang, Keon Wook; Chung, June Key; Lee, Myung Chul; Lee, Dong Soo

    2011-01-01

    Although the three phase bone scan (TBPS) is one of the widely used imaging studies for diagnosing complex regional pain syndrome type 1 (CRPS 1), there is some controversy regarding the TPBS image criteria for CRPS 1. In this study, we modified the image criteria using image pattern and quantitative analysis in the patients diagnosed using the most recent consensus clinical diagnostic criteria. The study included 140 patients with suspected CRPS 1 (CRPS 1, n=79; non CRPS, n=61; mean age 39±15 years) who underwent TPBS. The clinical diagnostic criteria for CRPS 1 revised by the Budapest consensus group were used for confirmative diagnosis. Patients were classified according to flow/pool and delayed uptake (DU) image patterns, and the time interval between the initiating event and TPBS (TI eventscan) . Quantitative analysis for lesion to contralateral ratio (LCR) was performed. Modified TPBS image criteria were created and evaluated for optimal diagnostic performance. Both increased and decreased periarticular DU were significant image findings for CRPS 1 (CRPS 1 positive rate=73% in the increased DU group, 75% in the decreased DU group). The TI eventscand id not differ significantly between the different image pattern groups. Quantitative analysis revealed an LCR of 1.43 was the optimal cutoff value for CRPS 1 and diagnostic performance was significantly improved in the increased DU group (area under the curve=0.732). Given the modified image criteria, the sensitivity and specificity of TPBS for diagnosing CRPS 1 were 80% and 72%, respectively. Optimally modified TPBS image criteria for CRPS 1 were suggested using image pattern and quantitative analysis. With the criteria, TPBS is an effective imaging study for CRPS 1 even with the most recent consensus clinical diagnostic criteria.

  15. The rubber hand illusion in complex regional pain syndrome: preserved ability to integrate a rubber hand indicates intact multisensory integration.

    Science.gov (United States)

    Reinersmann, Annika; Landwehrt, Julia; Krumova, Elena K; Peterburs, Jutta; Ocklenburg, Sebastian; Güntürkün, Onur; Maier, Christoph

    2013-09-01

    In patients with complex regional pain syndrome (CRPS) type 1, processing of static tactile stimuli is impaired, whereas more complex sensory integration functions appear preserved. This study investigated higher order multisensory integration of body-relevant stimuli using the rubber hand illusion in CRPS patients. Subjective self-reports and skin conductance responses to watching the rubber hand being harmed were compared among CRPS patients (N=24), patients with upper limb pain of other origin (N=21, clinical control group), and healthy subjects (N=24). Additionally, the influence of body representation (body plasticity [Trinity Assessment of Body Plasticity], neglect-like severity symptoms), and clinical signs of illusion strength were investigated. For statistical analysis, 1-way analysis of variance, t test, Pearson correlation, with α=0.05 were used. CRPS patients did not differ from healthy subjects and the control group with regard to their illusion strength as assessed by subjective reports or skin conductance response values. Stronger left-sided rubber hand illusions were reported by healthy subjects and left-side-affected CRPS patients. Moreover, for this subgroup, illness duration and illusion strength were negatively correlated. Overall, severity of neglect-like symptoms and clinical signs were not related to illusion strength. However, patients with CRPS of the right hand reported significantly stronger neglect-like symptoms and significantly lower illusion strength of the affected hand than patients with CRPS of the left hand. The weaker illusion of CRPS patients with strong neglect-like symptoms on the affected hand supports the role of top-down processes modulating body ownership. Moreover, the intact ability to perceive illusory ownership confirms the notion that, despite impaired processing of proprioceptive or tactile input, higher order multisensory integration is unaffected in CRPS. Copyright © 2013 International Association for the Study

  16. Reflex sympathetic dystrophy: complex regional pain syndrome type I in children with mitochondrial disease and maternal inheritance.

    Science.gov (United States)

    Higashimoto, T; Baldwin, E E; Gold, J I; Boles, R G

    2008-05-01

    Complex regional pain syndrome type I (CRPS-I), previously known as reflex sympathetic dystrophy (RSD), is an idiopathic condition characterised by localised, abnormally intense and prolonged pain, allodynia and autonomic nervous system changes (ie, swelling, skin colour and temperature changes and altered perspiration) that usually appear following a "noxious" trigger such as trauma or surgery. The objective of this report is to demonstrate that children with CRPS-I can have additional dysautonomic conditions secondary to an underlying maternally inherited mitochondrial disease, an association not previously published. Medical records of about 500 patients seen by one paediatric metabolic geneticist were reviewed to identify children meeting established CRPS diagnostic criteria. CRPS-I was present in eight children in seven families, each of which also had additional functional/dysautonomic conditions, the most common (> or = 4 cases per condition) being gastrointestinal dysmotility, migraine, cyclic vomiting and chronic fatigue. All seven probands studied met Nijmegen (2002) diagnostic criteria for definite mitochondrial disease on the basis of the clinical signs and symptoms and biochemical analyses. Six of the seven families met our pedigree-based criteria for probable maternal inheritance. In one tertiary-care paediatric genetics practice, children meeting the CRPS-I diagnostic criteria frequently had additional autonomic-related conditions secondary to maternally inherited mitochondrial disease, suggesting that mitochondrial DNA sequence variants can predispose children towards the development of CRPS-I and other dysautonomias. CRPS-I should be considered in patients with mitochondrial disease who complain of idiopathic pain. Maternally inherited mitochondrial disease may not be a rare cause of CRPS-I, especially in children who present with other manifestations of dysautonomia.

  17. Epidermal adrenergic signaling contributes to inflammation and pain sensitization in a rat model of complex regional pain syndrome.

    Science.gov (United States)

    Li, Wenwu; Shi, Xiaoyou; Wang, Liping; Guo, Tianzhi; Wei, Tzuping; Cheng, Kejun; Rice, Kenner C; Kingery, Wade S; Clark, J David

    2013-08-01

    In many patients, the sympathetic nervous system supports pain and other features of complex regional pain syndrome (CRPS). Accumulating evidence suggests that interleukin (IL)-6 also plays a role in CRPS, and that catecholamines stimulate production of IL-6 in several tissues. We hypothesized that norepinephrine acting through specific adrenergic receptors expressed on keratinocytes stimulates the production of IL-6 and leads to nociceptive sensitization in a rat tibial fracture/cast model of CRPS. Our approach involved catecholamine depletion using 6-hydroxydopamine or, alternatively, guanethidine, to explore sympathetic contributions. Both agents substantially reduced nociceptive sensitization and selectively reduced the production of IL-6 in skin. Antagonism of IL-6 signaling using TB-2-081 also reduced sensitization in this model. Experiments using a rat keratinocyte cell line demonstrated relatively high levels of β2-adrenergic receptor (β2-AR) expression. Stimulation of this receptor greatly enhanced IL-6 expression when compared to the expression of IL-1β, tumor necrosis factor (TNF)-α, or nerve growth factor. Stimulation of the cells also promoted phosphorylation of the mitogen-activated protein kinases P38, extracellular signal-regulated kinase, and c-Jun amino-terminal kinase. Based on these in vitro results, we returned to animal testing and observed that the selective β2-AR antagonist butoxamine reduced nociceptive sensitization in the CRPS model, and that local injection of the selective β2-AR agonist terbutaline resulted in mechanical allodynia and the production of IL-6 in the cells of the skin. No increases in IL-1β, TNF-α, or nerve growth factor levels were seen, however. These data suggest that in CRPS, norepinephrine released from sympathetic nerve terminals stimulates β2-ARs expressed on epidermal keratinocytes, resulting in local IL-6 production, and ultimately, pain sensitization. Published by Elsevier B.V.

  18. Efficacy of vitamin C in preventing complex regional pain syndrome after wrist fracture: A systematic review and meta-analysis.

    Science.gov (United States)

    Aïm, F; Klouche, S; Frison, A; Bauer, T; Hardy, P

    2017-05-01

    Complex regional pain syndrome type I (CRPS-I), previously known as reflex sympathetic dystrophy, is common after conservatively or surgically treated wrist fractures. Several studies support the efficacy of vitamin C in preventing CRPS-I, although the data are somewhat conflicting. The primary objective of this systematic literature review and meta-analysis was to assess the efficacy of vitamin C therapy in preventing CRPS-I after a wrist fracture. Randomised, placebo-controlled trials of vitamin C to prevent CRPS-I after wrist fractures were sought in the three main databases: PubMed (1980 to December 2015), CENTRAL (Central 2015, number 12), and Embase (1980 to December 2015). Two authors worked independently to select articles. Data from selected articles were collected independently. Three randomised placebo-controlled trials in a total of 875 patients were included. Treatment was non-operative in 758/890 (85.1%) fractures and operative in 132 (14.9%) fractures. Vitamin C supplementation was started on the day of the injury and continued for 50 days. In the group given 500mg of vitamin C daily, the risk ratio for CRPS-I was 0.54 (95%CI, 0.33-0.91; P=0.02). Thus, the risk of developing CRPS-I was significantly decreased by prophylactic treatment with 500mg of vitamin C per day. The heterogeneity rate was 65% (non-significant). Daily supplementation with 500mg of vitamin C per day for 50 days decreases the 1-year risk of CRPS-I after wrist fracture. II, systematic review of level I and II studies. Copyright © 2017 Elsevier Masson SAS. All rights reserved.

  19. Bodily Sensory Inputs and Anomalous Bodily Experiences in Complex Regional Pain Syndrome: Evaluation of the Potential Effects of Sound Feedback

    Directory of Open Access Journals (Sweden)

    Ana Tajadura-Jiménez

    2017-07-01

    Full Text Available Neuroscientific studies have shown that human's mental body representations are not fixed but are constantly updated through sensory feedback, including sound feedback. This suggests potential new therapeutic sensory approaches for patients experiencing body-perception disturbances (BPD. BPD can occur in association with chronic pain, for example in Complex Regional Pain Syndrome (CRPS. BPD often impacts on emotional, social, and motor functioning. Here we present the results from a proof-of-principle pilot study investigating the potential value of using sound feedback for altering BPD and its related emotional state and motor behavior in those with CRPS. We build on previous findings that real-time alteration of the sounds produced by walking can alter healthy people's perception of their own body size, while also resulting in more active gait patterns and a more positive emotional state. In the present study we quantified the emotional state, BPD, pain levels and gait of twelve people with CRPS Type 1, who were exposed to real-time alteration of their walking sounds. Results confirm previous reports of the complexity of the BPD linked to CRPS, as participants could be classified into four BPD subgroups according to how they mentally visualize their body. Further, results suggest that sound feedback may affect the perceived size of the CRPS affected limb and the pain experienced, but that the effects may differ according to the type of BPD. Sound feedback affected CRPS descriptors and other bodily feelings and emotions including feelings of emotional dominance, limb detachment, position awareness, attention and negative feelings toward the limb. Gait also varied with sound feedback, affecting the foot contact time with the ground in a way consistent with experienced changes in body weight. Although, findings from this small pilot study should be interpreted with caution, they suggest potential applications for regenerating BDP and its related

  20. An Individual with Gilles de la Tourette Syndrome and Smith-Magenis Microdeletion Syndrome: Is Chromosome 17p11.2 a Candidate Region for Tourette Syndrome Putative Susceptibility Genes?

    Science.gov (United States)

    Shelley, B. P.; Robertson, M. M.; Turk, J.

    2007-01-01

    This is the first published case description in the current literature of the association of definite Gilles de la Tourette syndrome (GTS) and the Smith-Magenis syndrome (SMS), both confirmed by DSM-IV-TR criteria and molecular cytogenetic analysis, respectively. The co-occurrence of GTS, SMS and their common behavioural/neuropsychiatric…

  1. Population - A Critical Factor in the Formation of the Regional System of the Land of the Moţi

    Directory of Open Access Journals (Sweden)

    CRISTIAN NICOLAE BOŢAN

    2009-01-01

    Full Text Available “The Land of the Moţi” is a regional geographical entity where the impact of the anthropic component is essential. If, for a long period, the population has been a cohesion factor in the birth of this regional system, at present, by means of the negative features of the demographical indicators, the population stands out by inducing several elements of high risk. The massive emigration of the population, especially from the areas of high altitude, the gentrification process, the low degree of economic development, are all serious problems which must be on the agenda of the decision-making political factors.

  2. A complex rearrangement on chromosome 22 affecting both homologues; haplo-insufficiency of the Cat eye syndrome region may have no clinical relevance.

    Science.gov (United States)

    Kriek, Marjolein; Szuhai, Karoly; Kant, Sarina G; White, Stefan J; Dauwerse, Hans; Fiegler, Heike; Carter, Nigel P; Knijnenburg, Jeroen; den Dunnen, Johan T; Tanke, Hans J; Breuning, Martijn H; Rosenberg, Carla

    2006-08-01

    The presence of highly homologous sequences, known as low copy repeats, predisposes for unequal recombination within the 22q11 region. This can lead to genomic imbalances associated with several known genetic disorders. We report here a developmentally delayed patient carrying different rearrangements on both chromosome 22 homologues, including a previously unreported rearrangement within the 22q11 region. One homologue carries a deletion of the proximal part of chromosome band 22q11. To our knowledge, a 'pure' deletion of this region has not been described previously. Four copies of this 22q11 region, however, are associated with Cat eye syndrome (CES). While the phenotypic impact of this deletion is unclear, familial investigation revealed five normal relatives carrying this deletion, suggesting that haplo-insufficiency of the CES region has little clinical relevance. The other chromosome 22 homologue carries a duplication of the Velocardiofacial/DiGeorge syndrome (VCFS/DGS) region. In addition, a previously undescribed deletion of 22q12.1, located in a relatively gene-poor region, was identified. As the clinical features of patients suffering from a duplication of the VCFS/DGS region have proven to be extremely variable, it is impossible to postulate as to the contribution of the 22q12.1 deletion to the phenotype of the patient. Additional patients with a deletion within this region are needed to establish the consequences of this copy number alteration. This study highlights the value of using different genomic approaches to unravel chromosomal alterations in order to study their phenotypic impact.

  3. Antibody Epitopes Identified in Critical Regions of Dengue Virus Nonstructural 1 Protein in Mouse Vaccination and Natural Human Infections.

    Science.gov (United States)

    Hertz, Tomer; Beatty, P Robert; MacMillen, Zachary; Killingbeck, Sarah S; Wang, Chunling; Harris, Eva

    2017-05-15

    Dengue is a global public health problem and is caused by four dengue virus (DENV) serotypes (DENV1-4). A major challenge in dengue vaccine development is that cross-reactive anti-DENV Abs can be protective or potentially increase disease via Ab-dependent enhancement. DENV nonstructural protein 1 (NS1) has long been considered a vaccine candidate as it avoids Ab-dependent enhancement. In this study, we evaluated survival to challenge in a lethal DENV vascular leak model in mice immunized with NS1 combined with aluminum and magnesium hydroxide, monophosphoryl lipid A + AddaVax, or Sigma adjuvant system+CpG DNA, compared with mice infected with a sublethal dose of DENV2 and mice immunized with OVA (negative control). We characterized Ab responses to DENV1, 2, and 3 NS1 using an Ag microarray tiled with 20-mer peptides overlapping by 15 aa and identified five regions of DENV NS1 with significant levels of Ab reactivity in the NS1 + monophosphoryl lipid A + AddaVax group. Additionally, we profiled the Ab responses to NS1 of humans naturally infected with DENV2 or DENV3 in serum samples from Nicaragua collected at acute, convalescent, and 12-mo timepoints. One region in the wing domain of NS1 was immunodominant in both mouse vaccination and human infection studies, and two regions were identified only in NS1-immunized mice; thus, vaccination can generate Abs to regions that are not targeted in natural infection and could provide additional protection against lethal DENV infection. Overall, we identified a small number of immunodominant regions, which were in functionally important locations on the DENV NS1 protein and are potential correlates of protection. Copyright © 2017 by The American Association of Immunologists, Inc.

  4. A 1.5-Mb cosmid contig of the CMT1A duplication/HNPP deletion critical region in 17p11.2-p12

    Energy Technology Data Exchange (ETDEWEB)

    Murakami, Tatsufumi; Lupski, J.R. [Baylor College of Medicine, Houston, TX (United States)

    1996-05-15

    Charcot-Marie-Tooth disease type 1A (CMT1A) is associated with a 1.5-Mb tandem duplication in chromosome 17p11.2-p12, and hereditary neuropathy with liability to pressure palsies (HNPP) is associated with a 1.5-Mb deletion at this locus. Both diseases appear to result from an altered copy number of the peripheral myelin protein-22 gene, PMP22, which maps within the critical region. To identify additional genes and characterize chromosomal elements, a 1.5-Mb cosmid contig of the CMT1A duplication/HNPP deletion critical region was assembled using a yeast artificial chromosome (YAC)-based isolation and binning strategy. Whole YAC probes were used for screening a high-density arrayed chromosome 17-specific cosmid library. Selected cosmids were spotted on dot blots and assigned to bins defined by YACs. This binning of cosmids facilitated the subsequent fingerprint analysis. The 1.5-Mb region was covered by 137 cosmids with a minimum overlap set of 52 cosmids assigned to 17 bins and 9 contigs. 20 refs., 2 figs.

  5. Numerical study of criticality of the slab reactors with three regions in one-group transport theory

    International Nuclear Information System (INIS)

    Santos, A. dos.

    1979-01-01

    The criticality of slab reactors consisting of core, blanket, and reflector is studied numerically based on the singular-eigenfunction-expansion method in one-group transport theory. The purpose of this work is three-fold: (1) it is shown that the three-media problem can be converted, using a recently developed method, to a set of regular integral equations for the expansion coefficients, such that numerical solutions can be obtained for the first time based on an exact theory; (2) highly accurate numerical results that can serve as standards of comparison for various approximate methods are reported for representative sets of parameters; and (3) the accuracy of the P sub(N) approximation, one of the more often used methods, is analyzed compared to the exact results [pt

  6. [Establishment of medians for maternal serum markers in Down's syndrome screening during the second trimester of pregnancy in north-central region of Jiangxi Province].

    Science.gov (United States)

    Long, Yao; Liu, Yanqiu; Ma, Pengpeng; You, Xueyun; Yuan, Huizhen

    2017-07-28

    To establish the median databases of serum markers for Down's syndrome screening during the second trimester of pregnancy women in the north-central area of Jiangxi Province.
 Methods: Time-resolved fluorometry was used to detect the serum contents of AFP free β-hCG and uE3 in 57 548 pregnant women during 15-20 gestational weeks. Risk evaluation was conducted by LifeCycle 4.0. SAS 9.2 software was used to establish a model of the median fitted equation. The newly constructed median system was used to reassess the risk of Down's syndrome development in pregnant women.
 Results: The medianand built in medianof north-central region in Jiangxi Province are significantly different (Z=2.201, P=0.028). The relationship between the median of the triple index and the gestational age was analyzed by the weight regression model. The relationship between the MoM value and the weight was used to calculate the reciprocal model. The median of the new system was more efficiency than the built in median. In the median of the new system than the reference, the detection rate improved from 62.75% to 72.55%, false positive rate reduced by 5.84% to 4.94%.
 Conclusion: The newly constructed median system is suitable for Down's syndrome screening in the north-central region of Jiangxi Province.

  7. Lifestyle modifications supported by regional health nurses lowered insulin resistance, oxidative stress and central blood pressure in subjects with metabolic syndrome.

    Science.gov (United States)

    Ohno, Yoichi; Miyazaki, Takashi; Sato, Makiko; Araki, Ryuichiro; Takahashi, Sachiko; Takenaka, Tsuneo; Suzuki, Hiromichi; Shibazaki, Satomi

    2015-01-01

    This study was attempted to investigate whether lifestyle modifications supported by regional health nurses should improve cardio-metabolic factors--including adipocytokines, oxidative stress, and arterial stiffness--in subjects with metabolic syndrome. Thirty-six subjects with metabolic syndrome were enrolled, 28 of whom completed the 6-month lifestyle modifications (male:female=19:9). Blood and urine test results were examined in relation to metabolic factors before and after 6-month nutritional and physical activity modifications. In addition, oral glucose tolerance tests were performed and arterial stiffness was measured by brachial-ankle pulse wave velocity and radial augmentation index before and after them. Six-month lifestyle modifications significantly reduced body weight, homeostasis model assessment index, and low-density lipoprotein cholesterol (LDL-C). They significantly attenuated oxidative stress measured by the urinary 8-hydroxy-2-deoxyguanosine/creatinine ratio. They also lowered brachial and central systolic blood pressure. They tended to decrease waist circumferences and the levels of C-reactive protein. However they did not significantly change the levels of adipocytokines, including tumour necrosis factor, soluble tumour necrosis factor receptors, and interleukin 6, or arterial stiffness measured by brachial-ankle pulse wave velocity and radial augmentation index. Six-month lifestyle modifications supported by regional health nurses lowered body weight, insulin resistance, LDL-C, oxidative stress, and peripheral and central blood pressure in subjects with metabolic syndrome. Copyright © 2015 Asia Oceania Association for the Study of Obesity. Published by Elsevier Ltd. All rights reserved.

  8. Pericentrin expression in Down's syndrome.

    Science.gov (United States)

    Salemi, Michele; Barone, Concetta; Romano, Carmelo; Salluzzo, Roberto; Caraci, Filippo; Cantarella, Rita Anna; Salluzzo, Maria Grazia; Drago, Filippo; Romano, Corrado; Bosco, Paolo

    2013-11-01

    Down's syndrome (DS) is the most frequent genetic cause of intellectual disability and is a chromosomal abnormality of chromosome 21 trisomy. The pericentrin gene (PCNT) has sequenced in 21q22.3 inside of the minimal critical region for Down's syndrome. Alterations of PCNT gene are associated with dwarfism, cardiomyopathy and other pathologies. In this study, we have evaluated the possible differential expression of PCNT mRNA, by qRT-PCR, in peripheral blood leukocytes of DS subjects compared with the normal population. In the present case-control study, PCNT gene expression was increased by 72.72% in 16 out 22 DS samples compared with normal subjects. Our data suggest that changes in the expression levels of PCNT in DS subjects may be involved into the molecular mechanism of Down's syndrome.

  9. The occurrence of moisture deficits for representatives of main crop sorts in their critical development stages in driest regions of the Czech Republic in years 1961–2000

    Directory of Open Access Journals (Sweden)

    Pavel Spitz

    2008-01-01

    Full Text Available The article presents acquired results of moisture deficits for representatives of main crop sorts in their very critical development stages on soil moisture in our driest regions (Žatecko, Litoměřicko, Middle Bohemia, East Bohemia, Southern Moravia, South-East Moravia, Middle Moravia in the years 1961–2000. The calculations were realized by the specially developed program BIVPROG 1 (the balance moisture program for PC for perennial wheat (as representative of cereals, perennial rape (technical crops, potatoes (root-crops and alfalfa (fodder crops, in its first crop year. The results of the calculations are probabilities of over fullfilment of maximum number days successive with moisture below the lower limit of soil moisture ΘZ found out in very critical development stages on moisture for every chosen crop. The probabilities of over fullfilment were determined from quadragenarian line (the years 1961–2000 of calculations made for every technical line of climatological data and pertinent phenological station with phenological data of chosen crop and they were worked into graphs. With regards to the extent of graphical outcome, the results are worked in tables VI. to IX. The fortnightly criterion was derived for comprehensive evaluation of acquired results, the values of comprehensive evaluation are presented in table X. This table reflects that the fortnightly criterion in the years 1961–2000 was exceeded in more then 20 years for all chosen crops, also in the case of perennial wheat and rape which are considered as secondary from the aspect of their irrigation requirements. From the obtained data also follows, that the lack of soil moisture usually starts to show signs before the very critical development stages of the crop, and then often continues. The results were acquired for medium soil, for mild soil the results would be even more unfavourable. The obtained results from our driest regions evoke the concern for irrigation

  10. Prevalence of metabolic syndrome in type 2 diabetes mellitus using NCEP-ATPIII, IDF and WHO definition and its agreement in Gwalior Chambal region of Central India.

    Science.gov (United States)

    Yadav, Dhananjay; Mahajan, Sunil; Subramanian, Senthil Kumar; Bisen, Prakash Singh; Chung, Choon Hee; Prasad, G B K S

    2013-09-17

    The aim of study was to determine the prevalence of metabolic syndrome (MetS) in people with type 2 diabetes mellitus (T2DM). National Cholesterol Education Program (NCEP) ATPIII Criteria, International Diabetes Federation and the World Health Organization (WHO) definitions were used in quantifying the metabolic syndrome and also the concordance between these three criteria's used for identifying metabolic syndrome. This cross-sectional study involved 700 type 2 diabetic subjects from the urban areas of Gwalior Chambal region (Central India). Subjects in the age group of 28- 87 yrs were included in the study. Type I diabetics, pregnant ladies and those with chronic viral and bacterial infections and serious metabolic disorders were excluded from the study. Fasting blood glucose, Blood lipids (T-cholesterol, triglyceride, HDL-cholesterol) were assessed and anthropometry blood pressure were measured from all the subjects. The Prevalence of metabolic syndrome was found to be 45.8%, 57.7% and 28% following NCEP-ATPIII Criteria, IDF and WHO definitions, respectively. Using all the three definitions the prevalence was higher in women in all age groups. ATP III and IDF criteria showed good agreement (k 0.68) compared to ATP III with WHO (k 0.54) and IDF with WHO (k 0.34) criteria. Highest prevalence was observed following IDF definition. A good agreement was observed between ATPIII and IDF criteria. Maximum prevalence of Metabolic syndrome was recorded when IDF criteria was followed. NCEP-ATPIII criteria for the diagnosis of MetS and this criterion reflected equal importance to the every variable and showed a good agreement between the different criteria used.

  11. Prevalence of metabolic syndrome in Murcia Region, a southern European Mediterranean area with low cardiovascular risk and high obesity

    Directory of Open Access Journals (Sweden)

    Huerta José M

    2011-07-01

    Full Text Available Abstract Background Metabolic syndrome (MS is associated with subsequent appearance of diabetes and cardiovascular disease. As compared to other Spanish regions, Murcia (southern Spain registers increased obesity as well as cardiovascular morbidity and mortality. The aim of this study was to assess the prevalence of MS and its components, awareness of obesity as a health risk and associated lifestyles. Methods A population-based, cross-sectional study was conducted in 2003, covering a sample of 1555 individuals 20 years and over. MS was defined according to the Revised National Cholesterol Education Program Adult Treatment Panel III (R-ATPIII, International Diabetes Federation (IDF and Joint Interim Statement (JIS criteria. Both low (94/80 and high (102/88 waist circumference (WC thresholds were considered. Results Prevalence of MS was 27.2% (95%CI: 25.2-29.2, 32.2% (95%CI: 30.1-34.3 and 33.2% (95%CI: 31.2-35.3 according to the R-ATPIII, IDF and JIS94/80 respectively. It increased with age until reaching 52.6% (R-ATPIII or 60.3% (JIS94/80 among persons aged 70 years and over, and was higher in persons with little or no formal education (51.7% R-ATPIII, 57.3% JIS94/80. The most common risk factors were hypertension (46.6% and central obesity (40.7% and 66.1% according to high and low WC cut-off points respectively. Although most persons were aware that obesity increased health risks, regular exercise was very unusual (13.0% centrally obese, 27.2% non-centrally obese. Adherence to dietary recommendations was similar among centrally obese and non-centrally obese subjects. Conclusions Prevalence of MS is high in our population, is comparable to that found in northern Europe and varies with the definition used. Adherence to preventive recommendations and to adequate weight promotion is very low. In the absence of a specific treatment for MS, integrated intervention based on a sustained increase in physical activity and changes in diet should be

  12. Complex regional pain syndrome: medical and legal ramifications of clinical variability and experience and perspective of a practicing clinician

    Directory of Open Access Journals (Sweden)

    Lazaro RP

    2016-12-01

    Full Text Available RP Lazaro Department of Neurology, Albany Medical College, Albany, NY, USA Objective: The aim of this study was to demonstrate the ramifications of clinical variability of complex regional pain syndrome (CRPS and how they can affect the various aspects of this condition, favorably or unfavorably, for both patients and participating medical and legal professionals.Methods: Twelve patients diagnosed with CRPS at different times in the past 25 years were followed up, and their signs and symptoms were reviewed for variability. None had preexisting or ongoing medical disorders and prior injury to the peripheral nerves or musculoskeletal tissues. None had been involved in litigation. Physical traumas that triggered CRPS were job-related, vehicular accidents, and personal injuries. The presence of vasomotor symptoms (eg, swelling, skin discoloration, and temperature changes and allodynia in the affected extremity was the basis for clinical diagnosis in all the patients. The need for imaging studies was precluded in some patients owing to the presence of vasomotor symptoms, which either fluctuated or were steady. Seven of the patients had type 1 CRPS, and five patients had type 2 CRPS. Results: Most patients encountered delay in diagnosis and treatment and legal obstacles owing to the lack of “typical” objective signs of CRPS. The patients’ symptoms fluctuated at different times of the day. Eight patients experienced spread of vasomotor symptoms and varying degree of allodynia in the opposite extremity. One patient, who developed signs and symptoms of rheumatoid arthritis, 2 months after the injury, continued to have CRPS symptoms in the injured hand. Treatment modalities administered in all the patients were essentially ineffective. All the patients, except one, were unable to return to their original line of work, and their symptoms persisted regardless of the outcome of their legal claims.Conclusion: It is likely that patients who continue to

  13. Pain exposure physical therapy (PEPT) compared to conventional treatment in complex regional pain syndrome type 1: a randomised controlled trial

    Science.gov (United States)

    Barnhoorn, Karlijn J; van de Meent, Henk; van Dongen, Robert T M; Klomp, Frank P; Groenewoud, Hans; Samwel, Han; Nijhuis-van der Sanden, Maria W G; Frölke, Jan Paul M; Staal, J Bart

    2015-01-01

    Objective To compare the effectiveness of pain exposure physical therapy (PEPT) with conventional treatment in patients with complex regional pain syndrome type 1 (CRPS-1) in a randomised controlled trial with a blinded assessor. Setting The study was conducted at a level 1 trauma centre in the Netherlands. Participants 56 adult patients with CRPS-1 participated. Three patients were lost to follow-up. Interventions Patients received either PEPT in a maximum of five treatment sessions, or conventional treatment following the Dutch multidisciplinary guideline. Measurements Outcomes were assessed at baseline and at 3, 6 and 9 months after randomisation. The primary outcome measure was the Impairment level Sum Score—Restricted Version (ISS-RV), consisting of visual analogue scale for pain (VAS-pain), McGill Pain Questionnaire, active range of motion (AROM) and skin temperature. Secondary outcome measures included Pain Disability Index (PDI); muscle strength; Short Form 36 (SF-36); disability of arm, shoulder and hand; Lower Limb Tasks Questionnaire (LLTQ); 10 m walk test; timed up-and-go test (TUG) and EuroQol-5D. Results The intention-to-treat analysis showed a clinically relevant decrease in ISS-RV (6.7 points for PEPT and 6.2 points for conventional treatment), but the between-group difference was not significant (0.96, 95% CI −1.56 to 3.48). Participants allocated to PEPT experienced a greater improvement in AROM (between-group difference 0.51, 95% CI 0.07 to 0.94; p=0.02). The per protocol analysis showed larger and significant between-group effects on ISS-RV, VAS-pain, AROM, PDI, SF-36, LLTQ and TUG. Conclusions We cannot conclude that PEPT is superior to conventional treatment for patients with CRPS-1. Further high-quality research on the effects of PEPT is warranted given the potential effects as indicated by the per protocol analysis. Trial registration numbers NCT00817128 and NTR 2090. PMID:26628523

  14. Placebo responses in long-standing complex regional pain syndrome: a systematic review and meta-analysis.

    Science.gov (United States)

    Mbizvo, Gashirai K; Nolan, Sarah J; Nurmikko, Turo J; Goebel, Andreas

    2015-02-01

    The typical placebo response (ie, the nonspecific effects in the placebo group including benign natural course, regression to the mean, expectation/conditioning effects, and others) in randomized trials in complex regional pain syndrome (CRPS) is unknown. We recently observed a surprising near-absence of placebo response in a randomized controlled trial we conducted on patients with long-standing (≥6 months) CRPS. To investigate the idea that there may be an absence of placebo response in long-standing CRPS further, we conducted a systematic review and meta-analysis of placebo responses in randomized controlled trials conducted in patients with CRPS of ≥6 months. We systematically identified suitable randomized controlled trials published between 1966 and September 2013. We calculated the mean difference and standard error of the mean difference for placebo responses and synthesized individual effect sizes at 4 specified time periods of interest (15-30 minutes, 1 week, 3-4 weeks, and 6 weeks or more) via meta-analysis using the method of inverse-variance. Heterogeneity was assessed according to the I(2) statistic. For primary analysis, we pooled trial-specific effect sizes over the 4 time points. We analyzed data from 340 participants from 18 trials out of a possible 361 participants from 20 trials (94% of participants analyzed). Significant heterogeneity was present between trials; therefore, we interpreted trends from visual inspection of individual trials and pooled estimates. Placebo response was significant at the earliest time period (15-30 minutes). There was no significant evidence of placebo response at any of the other time periods. These results inform the design of future trials, and they caution against the "therapeutic" use of placebo in long-standing CRPS. In this meta-analysis of placebo responses in randomized controlled trials in long-standing CRPS, published during 1966 to 2013, we found no evidence for placebo analgesia, except at

  15. Contralateral regional recurrence after elective unilateral neck irradiation in oropharyngeal carcinoma: A literature-based critical review.

    Science.gov (United States)

    Al-Mamgani, Abrahim; van Werkhoven, Erik; Navran, Arash; Karakullukcu, Baris; Hamming-Vrieze, Olga; Machiels, Melanie; van der Velden, Lilly-Ann; Vogel, Wouter V; Klop, W Martin

    2017-09-01

    The head and neck region has rich regional lymphatic network, with a theoretical risk on contralateral metastasis from oropharyngeal cancer (OPC). There is a long-standing convention to irradiate the great majority of these tumors electively to both sides of the neck to reduce the risk of contralateral regional failure (cRF), but this can induce significant toxicity. We aimed to identify patient groups where elective contralateral irradiation may safely be omitted. PubMed and EMBASE were searched for original full-text articles in English with a combination of search terms related to the end points: cRF in OPC primarily treated by radiotherapy only to the ipsilateral neck and identifying predictive factors for increased incidence of cRF. The data from the identified studies were pooled, the incidence of cRF was calculated and the correlation with different predictive factors was investigated. Eleven full-text articles met the inclusion criteria. In these studies, 1116 patients were treated to the ipsilateral neck alone. The mean incidence of cRF was 2.42% (range 0-5.9%, 95% CI 1.6-3.5%). The incidence of cRF correlated only with T-stage (p=0.008), and involvement of midline (p=0.001). However, the significant correlation with T-stage can be explained by the very low incidence of cRF among T1 (0.77%), and disappeared when the incidence of cRF was compared between T2, T3,and T4 (p=0.344). The incidence of cRF in patients with OPC is very low, with involvement of midline providing the most significant prognosticator. These results call for trials on unilateral elective irradiation in selected groups. Copyright © 2017 Elsevier Ltd. All rights reserved.

  16. [Peroral and transdermal application of non-steroidal anti-inflammatory drugs (NSAIDs) for the treatment of regional musculoskeletal pain syndromes].

    Science.gov (United States)

    Hodinka, László; Bálint, Géza; Budai, Erika; Géher, Pál; Papp, Renáta; Somogyi, Péter; Szántó, Sándor; Vereckei, Edit

    2017-12-01

    In this review the available evidences regarding the most frequently applied medication (peroral and transdermal non-steroidal anti-inflammatory agents) for the most frequent musculoskeletal complaints (regional pain syndromes) have been collected for the appropriate medical professionals who are most frequently faced with these conditions (general practitioners, rheumatologists, orthopedics, occupational and sports medicine experts). The special population at risk (with repeated and high energy overuse because of occupational or sport activities) and the pathology of their syndromes are identified. Mode of action, pharmacological properties of the non-steroidal anti-inflammatory drugs and the unwanted effects of their application especially in infants and elderly are highlighted. Recommendations of the general and specific pain management guidelines have been selected and listed in the review. Orv Hetil. 2017; 158(Suppl. 3): 3-30.

  17. Toward the gene(s) for Wiedemann-Beckwith syndrome and associated tumors in two different regions of 11p15

    Energy Technology Data Exchange (ETDEWEB)

    Henry, J.; Chehenase, V.; Boulevin, C. [INSERM, Paris (France)] [and others

    1994-09-01

    Wiedemann-Beckwith syndrome (WBS) is a malformation syndrome associated with predisposition to different types of tumors (WT, ADCC). Cytogenetic and familial studies mapped the WBS locus to 11p15.5. Genomic imprinting has been implicated in the expression of the syndrome. Using 11p15 specific markers we have determined the parental origin of both chromosomes 11 in sporadic WBS cases. Probands in 5 out of 26 informative families (25%) displayed uniparental disomy (UPD) corresponding to a paternal isodisomy for region 11p15.5. Mosaic phenotypes reflect the timing of their origin and the fate of cells involved as well as the cell-specific pattern of imprinting. Somatic mosaicism for UPD may thus explain the incomplete forms of WBS, the association of hemihypertrophy in sporadic WBS and even some cases of isolated hemihypertrophy. Moreover, the risk (60%) of developing a tumor seems higher for patients with paternal 11p UPD than for WBS patients in general (7.5%). Two different genomic libraries specific for region 11p15.5 were constructed and screened to isolate and characterize the gene(s) responsible for WBS and/or tumor progression. The characterization and and the localization of these cDNAs are in progress. 5 CA repeats genetically mapped in 11p15 were used to isolate YACs (CEPH). These CA repeats are now physically mapped using a panel of hybrids specific for the 11p15 region, and the contigs of YACs mapping in the regions of interest will be used to isolate coding sequences.

  18. MLPA analysis for a panel of syndromes with mental retardation reveals imbalances in 5.8% of patients with mental retardation and dysmorphic features, including duplications of the Sotos syndrome and Williams-Beuren syndrome regions

    DEFF Research Database (Denmark)

    Kirchhoff, Maria; Bisgaard, Anne-Marie; Bryndorf, Thue

    2007-01-01

    -Beuren, Prader-Willi, Angelman, Miller-Dieker, Smith-Magenis, and 22q11-deletion syndromes). Patients were initially referred for HR-CGH analysis and MRS-MLPA was performed retrospectively. MRS-MLPA analysis revealed imbalances in 15/258 patients (5.8%). Ten deletions were identified, including deletions of 1p36......MLPA analysis for a panel of syndromes with mental retardation (MRS-MLPA) was used for investigation of 258 mentally retarded and dysmorphic patients with normal conventional karyotypes (P064 probe set, MRC-Holland, for detection of (micro)deletions associated with 1p36-deletion, Sotos, Williams......, 5q35 (Sotos syndrome), 7q11 (Williams-Beuren syndrome), 17p11 (Smith-Magenis syndrome), 15q11 (Angelman syndrome) and 22q11. Duplications were detected in 5q35, 7q11, 17p13, 17p11 and 22q11. We reviewed another 170 patients referred specifically for MRS-MLPA analysis. Eighty of these patients were...

  19. Differences in dental and bone maturation in regions with or without hemihypertrophy in two patients with Russell-Silver syndrome.

    Science.gov (United States)

    Orbak, Zerrin; Orbak, Recep; Kara, Cankat; Kavrut, Fahri

    2005-07-01

    Hemihypertrophy (hemihyperplasia) is defined as asymmetric body overgrowth of one or more body parts. Hemihypertrophy can be isolated or be part of well-defined syndromes, such as Russell-Silver syndrome (RSS). RSS is characterized by severe intrauterine growth retardation, postnatal short stature, asymmetry of the face, body, and limbs, short and incurved fifth fingers, broad forehead, pointed small triangular shaped face, girdle nose, normal psychomotor development, variations in the pattern of sexual development, and dental and oral abnormalities. The aim of this study was to determine whether or not there was any difference in the maturity of bone in left and right hand-wrist radiographs and dental development in the right and left jaws of two patients with RSS. In addition, the clinical features of the syndrome are discussed.

  20. A Retrospective Review of the Use of Regional Citrate Anticoagulation in Continuous Venovenous Hemofiltration for Critically Ill Patients

    Directory of Open Access Journals (Sweden)

    Anne Kit-Hung Leung

    2013-01-01

    Full Text Available Background. The emergence of a commercially prepared citrate solution has revolutionized the use of RCA in the intensive care unit (ICU. The aim of this study was to evaluate the safety profile of a commercially prepared citrate solution. Method. Predilution continuous venovenous hemofiltration (CVVH was performed using Prismocitrate 10/2 at 2500 mL/h and a blood flow rate of 150 mL/min. Calcium chloride solution was infused to maintain ionized calcium within 1.0–1.2 mmol/L. An 8.4% sodium bicarbonate solution was infused separately. Treatment was stopped when the predefined clinical target was reached or the filter clotted. Result. 58 sessions of citrate RCA were analyzed. The median circuit lifetime was 26.0 h (interquartile range IQR 21.2–44.3. The percentage of circuits lasting more than 12 h, 24 h, and 48 h was 94.6%, 58.9%, and 16.1%, respectively. There was no incidence of hypernatremia and median pH was 2.5, only four patients had evidence of citrate accumulation. Conclusion. The commercially prepared citrate solution could be used safely in critically ill patients who required CVVH with no major adverse events.

  1. Bisphosphonates inhibit pain, bone loss, and inflammation in a rat tibia fracture model of complex regional pain syndrome

    Science.gov (United States)

    Wang, Liping; Guo, Tian-Zhi; Wei, Tzuping; Li, Wen-wu; Shi, Xiaoyou; Clark, J David; Kingery, Wade S

    2016-01-01

    BACKGROUND Bisphosphonates are used to prevent the bone loss and fractures associated with osteoporosis, bone metastases, multiple myeloma, and osteogenis deformans. Distal limb fractures cause regional bone loss with cutaneous inflammation and pain in the injured limb that can develop into complex regional pain syndrome (CRPS). Clinical trials have reported that anti-resorptive bisphosphonates can prevent fracture-induced bone loss, inhibit serum inflammatory cytokine levels, and alleviate CRPS pain. Previously we observed that the inhibition of inflammatory cytokines or adaptive immune responses attenuated the development of pain behavior in a rat fracture model of CRPS and we hypothesized that bisphosphonates could prevent pain behavior, trabecular bone loss, post-fracture cutaneous cytokine up-regulation, and adaptive immune responses in this CRPS model. METHODS Rats underwent tibia fracture and cast immobilization for 4 weeks and were chronically administered either subcutaneously perfused alendronate or oral zoledronate. Behavioral measurements included hindpaw von Frey allodynia, unweighting, warmth, and edema. Bone microarchitecture was measured by uCT and bone cellular activity was evaluated by static and dynamic histomorphometry. Spinal cord Fos immunostaining was performed and skin cytokine (TNF, IL-1, IL-6) and nerve growth factor (NGF) levels were determined by EIA. Skin and sciatic nerve immunoglobulin levels were determined by EIA. RESULTS Tibia fracture rats developed hindpaw allodynia, unweighting, warmth, and edema, increased spinal Fos expression, trabecular bone loss in the lumbar vertebra and bilateral distal femurs as measured by uCT, increased trabecular bone resorption and osteoclast surface with decreased bone formation rates, increased cutaneous inflammatory cytokine and NGF expression and elevated immunocomplex deposition in skin and nerve. Alendronate (60 μg/kg/day s.c.) or zoledronate (3 mg/kg/day p.o.) treatment for 28 days, started

  2. Bisphosphonates Inhibit Pain, Bone Loss, and Inflammation in a Rat Tibia Fracture Model of Complex Regional Pain Syndrome.

    Science.gov (United States)

    Wang, Liping; Guo, Tian-Zhi; Hou, Saiyun; Wei, Tzuping; Li, Wen-Wu; Shi, Xiaoyou; Clark, J David; Kingery, Wade S

    2016-10-01

    Bisphosphonates are used to prevent the bone loss and fractures associated with osteoporosis, bone metastases, multiple myeloma, and osteogenesis deformans. Distal limb fractures cause regional bone loss with cutaneous inflammation and pain in the injured limb that can develop into complex regional pain syndrome (CRPS). Clinical trials have reported that antiresorptive bisphosphonates can prevent fracture-induced bone loss, inhibit serum inflammatory cytokine levels, and alleviate CRPS pain. Previously, we observed that the inhibition of inflammatory cytokines or adaptive immune responses attenuated the development of pain behavior in a rat fracture model of CRPS, and we hypothesized that bisphosphonates could prevent pain behavior, trabecular bone loss, postfracture cutaneous cytokine upregulation, and adaptive immune responses in this CRPS model. Rats underwent tibia fracture and cast immobilization for 4 weeks and were chronically administered either subcutaneously perfused alendronate or oral zoledronate. Behavioral measurements included hindpaw von Frey allodynia, unweighting, warmth, and edema. Bone microarchitecture was measured by microcomputed tomography, and bone cellular activity was evaluated by static and dynamic histomorphometry. Spinal cord Fos immunostaining was performed, and skin cytokine (tumor necrosis factor, interleukin [IL]-1, IL-6) and nerve growth factor (NGF) levels were determined by enzyme immunoassay. Skin and sciatic nerve immunoglobulin levels were determined by enzyme immunoassay. Rats with tibia fractures developed hindpaw allodynia, unweighting, warmth, and edema, increased spinal Fos expression and trabecular bone loss in the lumbar vertebra and bilateral distal femurs as measured by microcomputed tomography, increased trabecular bone resorption and osteoclast surface with decreased bone formation rates, increased cutaneous inflammatory cytokine and NGF expression, and elevated immunocomplex deposition in skin and nerve

  3. Integrated GIS and multivariate statistical analysis for regional scale assessment of heavy metal soil contamination: A critical review.

    Science.gov (United States)

    Hou, Deyi; O'Connor, David; Nathanail, Paul; Tian, Li; Ma, Yan

    2017-12-01

    Heavy metal soil contamination is associated with potential toxicity to humans or ecotoxicity. Scholars have increasingly used a combination of geographical information science (GIS) with geostatistical and multivariate statistical analysis techniques to examine the spatial distribution of heavy metals in soils at a regional scale. A review of such studies showed that most soil sampling programs were based on grid patterns and composite sampling methodologies. Many programs intended to characterize various soil types and land use types. The most often used sampling depth intervals were 0-0.10 m, or 0-0.20 m, below surface; and the sampling densities used ranged from 0.0004 to 6.1 samples per km 2 , with a median of 0.4 samples per km 2 . The most widely used spatial interpolators were inverse distance weighted interpolation and ordinary kriging; and the most often used multivariate statistical analysis techniques were principal component analysis and cluster analysis. The review also identified several determining and correlating factors in heavy metal distribution in soils, including soil type, soil pH, soil organic matter, land use type, Fe, Al, and heavy metal concentrations. The major natural and anthropogenic sources of heavy metals were found to derive from lithogenic origin, roadway and transportation, atmospheric deposition, wastewater and runoff from industrial and mining facilities, fertilizer application, livestock manure, and sewage sludge. This review argues that the full potential of integrated GIS and multivariate statistical analysis for assessing heavy metal distribution in soils on a regional scale has not yet been fully realized. It is proposed that future research be conducted to map multivariate results in GIS to pinpoint specific anthropogenic sources, to analyze temporal trends in addition to spatial patterns, to optimize modeling parameters, and to expand the use of different multivariate analysis tools beyond principal component analysis

  4. Lean techniques to improve the flow of critically ill patients in a health region with its epicenter in the intensive care unit of a reference hospital.

    Science.gov (United States)

    Sirvent, J M; Gil, M; Alvarez, T; Martin, S; Vila, N; Colomer, M; March, E; Loma-Osorio, P; Metje, T

    2016-01-01

    To analyze whether the application of Lean techniques to improve the flow of critically ill patients in a health region with its epicenter in the intensive care unit (ICU) of a reference hospital. Observational study with pre and post intervention analysis. ICU of a reference hospital. We design projects and a value stream map of flow and compared pre and post intervention. We recorded demographic data, patient transfers by EMS for lack of beds and delay times in the discharge from ICU to ward. Multidisciplinary meetings and perform daily visual panel, with high priority ICU discharge. We promote temporary relocation of critically ill patients in other special areas of the hospital. We performed a professional satisfaction questionnaire with pre and post implementation of process. We make a statistical analysis of pre and post-intervention comparisons. We planned for 2013 and progressively implemented in 2014. Analysis of patients entering the critical process flow 1) evaluate patients who must transfer for lack of beds, focusing on a diagnosis: pre 10/22 vs. 3/21 post (P=.045); 2) analysis of time delay in the discharge from the ICU to ward: 360.8±163.9minutes in the first period vs. 276.7±149.5 in the second (P=.036); and 3) personal professional satisfaction questionnaire, with 6.6±1.5 points pre vs. 7.5±1.1 in post (P=.001). Analysis of indicators such as the ICU acquired infections, length of ICU stay, the rate of re-admissions and mortality, with no significant differences between the two periods. The application of Lean techniques in the critically ill process had a positive impact on improving patient flow within the health region, noting a decrease of transfers outside the region due to lack of beds, reduced delayed discharge from ICU to conventional ward and increased satisfaction of ICU professionals. Copyright © 2015 Elsevier España, S.L.U. y SEMICYUC. All rights reserved.

  5. Identification of Critical Region Responsible for Split Hand/Foot Malformation Type 3 (SHFM3 Phenotype through Systematic Review of Literature and Mapping of Breakpoints Using Microarray Data

    Directory of Open Access Journals (Sweden)

    Catherine F. Li

    2015-12-01

    Full Text Available Split hand/foot malformation (SHFM is a limb malformation with underdeveloped or absent central digital rays, clefts of hands and feet, and variable syndactyly of the remaining digits. There are six types of SHFM. Here, we report a boy with SHFM type 3 having normal 4th and 5th digits, absent 2nd and 3rd digits, and a 4th finger flexion deformity, as well as absent 2nd, 3rd and 4th toes bilaterally. His father, two paternal uncles, and two paternal first cousins have similar phenotype. Chromosome analysis showed a normal male karyotype. A 514 kb gain at 10q24.31–q24.32 (chr10:102,962,134–103,476,346, hg19 was identified using 6.0 Single nucleotide polymorphism (SNP microarray, resulting in the duplication of nine genes, including BTRC and FBXW4. A detailed systematic review of literature and mapping of breakpoints using microarray data from all reported cases in PubMed and DECIPHER were conducted, and exon 1 of BTRC gene was identified as the critical region responsible for the SHFM3 phenotype. The potential mechanism and future studies of this critical region causing the SHFM3 phenotype are discussed.

  6. Use of demonstrably effective therapies in the treatment of acute coronary syndromes: comparison between different Brazilian regions. Analysis of the Brazilian Registry on Acute Coronary Syndromes (BRACE).

    Science.gov (United States)

    Nicolau, José Carlos; Franken, Marcelo; Lotufo, Paulo Andrade; Carvalho, Antonio Carlos; Marin Neto, José Antonio; Lima, Felipe Gallego; Dutra, Oscar; Knobel, Elias; de Oliveira, Cesar Cardoso; Timerman, Sérgio; Stefanini, Edson

    2012-04-01

    Little is known in our country about regional differences in the treatment of acute coronary disease. To analyze the behavior regarding the use of demonstrably effective regional therapies in acute coronary disease. A total of 71 hospitals were randomly selected, respecting the proportionality of the country in relation to geographic location, among other criteria. In the overall population was regionally analyzed the use of aspirin, clopidogrel, ACE inhibitors / AT1 blocker, beta-blockers and statins, separately and grouped by individual score ranging from 0 (no drug used) to 100 (all drugs used). In myocardial infarction with ST elevation (STEMI) regional differences were analyzed regarding the use of therapeutic recanalization (fibrinolytics and primary angioplasty). In the overall population, within the first 24 hours of hospitalization, the mean score in the North-Northeast (70.5 ± 22.1) was lower (p Southeast (77.7 ± 29.5), Midwest (82 ± 22.1) and South (82.4 ± 21) regions. At hospital discharge, the score of the North-Northeast region (61.4 ± 32.9) was lower (p Southeast (69.2 ± 31.6), Midwest (65.3 ± 33.6) and South (73.7 ± 28.1) regions; additionally, the score of the Midwest was lower (p region. In STEMI, the use of recanalization therapies was highest in the Southeast (75.4%, p = 0.001 compared to the rest of the country), and lowest in the North-Northeast (52.5%, p regional differences.

  7. Differential regional cerebral glucose metabolism in clinical syndromes of frontotemporal lobar degeneration: a study with FDG PET

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    Park, J. M.; Cho, S. S.; Na, D. L.; Lee, K. H.; Choi, Y.; Choe, Y. S.; Kim, B. T.; Kim, S. E. [College of Medicine, Sungkyunkwan Univ., Seoul (Korea, Republic of)

    2001-07-01

    Frontotemporal lobar degeneration( FTLD) is the third most common dementia, following Alzheimer's disease and Lewy body disease. Four prototypic neurobehavioral syndromes can be produced by FTLD: frontotemporal dementia (FTD), frontotemporal dementia with motor neuron disease (MND), semantic dementia (SD), and progressive aphasia (PA). We investigated patterns of metabolic impairment in patient with FTLD presented with four different clinical syndromes. We analysed glucose metabolic patterns on FDG PET images obtained from 34 patients with a clinical diagnosis of FTLD (19 FTD, 6 MND, 6 SD, and 3 PA, according to a consensus criteria for clinical syndromes associated with FTLD) and 7 age-matched healthy controls using SPM99. Patients with FTD had metabolic deficit in the left frontal cortex and bilateral anterior temporal cortex. Hypometabolism in the bilateral premotor are was shown in patients with MND. Patients with SD had metabolic deficit in the left posterior temporal cortex including Wernicke's area, while hypometabolism in the bilateral inferior frontal gyrus including Broca's area and left angular gyrus was seen in patients with PA. These metabolic patterns were well correlated with clinical features of FTLD syndromes. These data provide a biochemical basis of clinical classification of FTLD. FDG PET may help evaluate and classify patients with FTLD.

  8. Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomalies

    NARCIS (Netherlands)

    Kim, H.G.; Kim, H.T.; Leach, N.T.; Lan, F.; Ullmann, R.; Silahtaroglu, A.; Kurth, I.; Nowka, A.; Seong, I.S.; Shen, Y.; Talkowski, M.E.; Ruderfer, D.; Lee, J.H.; Glotzbach, C.; Ha, K.; Kjaergaard, S.; Levin, A.V.; Romeike, B.F.; Kleefstra, T.; Bartsch, O.; Elsea, S.H.; Jabs, E.W.; MacDonald, M.E.; Harris, D.J.; Quade, B.J.; Ropers, H.H.; Shaffer, L.G.; Kutsche, K.; Layman, L.C.; Tommerup, N.; Kalscheuer, V.M.; Shi, Y.; Morton, C.C.; Kim, C.H.; Gusella, J.F.

    2012-01-01

    Potocki-Shaffer syndrome (PSS) is a contiguous gene disorder due to the interstitial deletion of band p11.2 of chromosome 11 and is characterized by multiple exostoses, parietal foramina, intellectual disability (ID), and craniofacial anomalies (CFAs). Despite the identification of individual genes

  9. Deletions at chromosome regions 7q11.23 and 7q36 in a patient with Williams syndrome

    NARCIS (Netherlands)

    Wouters, C. H.; Meijers-Heijboer, H. J.; Eussen, B. J.; van der Heide, A. A.; van Luijk, R. B.; van Drunen, E.; Beverloo, B. B.; Visscher, F.; van Hemel, J. O.

    2001-01-01

    We report on a patient with Williams syndrome and a complex de novo chromosome rearrangement, including microdeletions at 7q11.23 and 7q36 and additional chromosomal material at 7q36. The nature of this additional material was elucidated by spectral karyotyping and first assigned to chromosome 22.

  10. Critical Factors Inhibiting Performance of Small- and Medium-Scale Contractors in Sub-Saharan Region: A Case for Malawi

    Directory of Open Access Journals (Sweden)

    Paul John Kulemeka

    2015-01-01

    Full Text Available The construction industry is dominated by small- and medium-scale contractors (SMCs who face an emerging trend of unique challenges in the implementation of projects. The study was aimed at examining inhibiting factors that influence performance of SMCs in terms of “quality of work,” “tender estimation,” “tender preparation,” and “timely completion of construction projects” in Malawi. A survey questionnaire was administered to 370 players in the construction industry which included public sector clients, contractors, consultants, and construction resource trainers in order to elicit data from 118 variables that were identified through a careful literature review. The inhibiting factors were generally dominated by economic issues, which was an emerging trend to what has been previously reported in the sub-Saharan region. The first highest ranked inhibiting factors were high lending interest regimes offered by financial institutions; stringent conditions to access capital; fluctuation of currency; stringent requirements for obtaining bonds; and high taxes. The research lays the foundation for further understanding of inhibitors on performance of SMCs in an evolving world which is being impacted by global factors and punctuated by sudden changes.

  11. Research on critical groundwater level under the threshold value of land subsidence in the typical region of Beijing

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    Y. Jiang

    2015-11-01

    Full Text Available Groundwater in Beijing has been excessively exploited in a long time, causing the groundwater level continued to declining and land subsidence areas expanding, which restrained the economic and social sustainable development. Long years of study show good time-space corresponding relationship between groundwater level and land subsidence. To providing scientific basis for the following land subsidence prevention and treatment, quantitative research between groundwater level and settlement is necessary. Multi-linear regression models are set up by long series factual monitoring data about layered water table and settlement in the Tianzhu monitoring station. The results show that: layered settlement is closely related to water table, water level variation and amplitude, especially the water table. Finally, according to the threshold value in the land subsidence prevention and control plan of China (45, 30, 25 mm, the minimum allowable layered water level in this region while settlement achieving the threshold value is calculated between −18.448 and −10.082 m. The results provide a reasonable and operable control target of groundwater level for rational adjustment of groundwater exploited horizon in the future.

  12. POLYCYSTIC OVARY SYNDROME IN ADOLESCENCE

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    Diana Baptista

    2017-02-01

    Conclusion: Identification of adolescents at risk for Polycystic Ovary Syndrome is critical, not only for an appropriate therapeutic approach, but also to prevent co-morbidities associated with the syndrome, including obesity, insulin resistance, dyslipidemia and infertility.

  13. The Effects of High Level Magnesium Dialysis/Substitution Fluid on Magnesium Homeostasis under Regional Citrate Anticoagulation in Critically Ill.

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    Mychajlo Zakharchenko

    Full Text Available The requirements for magnesium (Mg supplementation increase under regional citrate anticoagulation (RCA because citrate acts by chelation of bivalent cations within the blood circuit. The level of magnesium in commercially available fluids for continuous renal replacement therapy (CRRT may not be sufficient to prevent hypomagnesemia.Patients (n = 45 on CRRT (2,000 ml/h, blood flow (Qb 100 ml/min with RCA modality (4% trisodium citrate using calcium free fluid with 0.75 mmol/l of Mg with additional magnesium substitution were observed after switch to the calcium-free fluid with magnesium concentration of 1.50 mmol/l (n = 42 and no extra magnesium replenishment. All patients had renal indications for CRRT, were treated with the same devices, filters and the same postfilter ionized calcium endpoint (<0.4 mmol/l of prefilter citrate dosage. Under the high level Mg fluid the Qb, dosages of citrate and CRRT were consequently escalated in 9h steps to test various settings.Median balance of Mg was -0.91 (-1.18 to -0.53 mmol/h with Mg 0.75 mmol/l and 0.2 (0.06-0.35 mmol/h when fluid with Mg 1.50 mmol/l was used. It was close to zero (0.02 (-0.12-0.18 mmol/h with higher blood flow and dosage of citrate, increased again to 0.15 (-0.11-0.25 mmol/h with 3,000 ml/h of high magnesium containing fluid (p<0.001. The arterial levels of Mg were mildly increased after the change for high level magnesium containing fluid (p<0.01.Compared to ordinary dialysis fluid the mildly hypermagnesemic fluid provided even balances and adequate levels within ordinary configurations of CRRT with RCA and without a need for extra magnesium replenishment.ClinicalTrials.gov Identifier: NCT01361581.

  14. Selenium, copper, zinc, iron levels and mortality in patients with sepsis and systemic inflammatory response syndrome in Western Black Sea Region, Turkey.

    Science.gov (United States)

    Ayoglu, Hilal; Sezer, Ustun; Akin, Mehmet; Okyay, Dilek; Ayoglu, Ferruh; Can, Murat; Kucukosman, Gamze; Piskin, Ozcan; Aydin, Bengu; Cimencan, Murat; Gur, Abdullah; Turan, Isil

    2016-04-01

    To evaluate the changing levels of selenium, copper, zinc and iron in patients with sepsis and systemic inflammatory response syndrome and their influence on mortality. The prospective study was conducted at a tertiary care university hospital in Zonguldak city in the western Black Sea region of Turkey from January 2012 to December 2013, and comprised patients with sepsis and systemic inflammatory response syndrome. Blood samples were taken on 1st, 3rd, 5th and 7th days to measure serum selenium, copper, zinc and iron levels. Patients' demographic data, presence of additional diseases and mortality were recorded. Of the 57 patients, 28(49.1%) were female and 29(50.9%) were male, with an overall mean age of 60.3±19.4 years, mean height of 166.1±11.4cm, mean weight of 76.5±17.5kg. Copper and zinc levels were in the normal range, while selenium and iron levels were lower than the limit values at all measuring periods. There was no significant difference between first and other days in accordance with element levels (p>0.05). Baseline copper levels in patients with malignancy were lower than patients without malignancy (pselenium levels of those who died were lower than the other patients (pSelenium and iron levels were decreased in patients with sepsis-systemic inflammatory response syndrome and copper levels were lower in patients with malignancy, hypertension and chronic obstructive pulmonary disease (pzinc levels of the patients. Reduced basal selenium levels of patients with sepsis and systemic inflammatory response syndrome were associated with mortality.

  15. Restrictive versus liberal transfusion strategy for red blood cell transfusion in critically ill patients and in patients with acute coronary syndrome: a systematic review, meta-analysis and trial sequential analysis.

    Science.gov (United States)

    Ripollés Melchor, Javier; Casans Francés, Rubén; Espinosa, Ángel; Martínez Hurtado, Eugenio; Navarro Pérez, Rosalía; Abad Gurumeta, Alfredo; Basora, Misericordia; Calvo Vecino, José M

    2016-05-01

    The risks and benefits of transfusing critically ill patients continue to evoke controversy. Specifically, the critically ill patients with active ischemic cardiac disease continue to represent a "gray area" in the literature. Meta-analysis of the effects of lower versus higher hemoglobin thresholds on mortality in critically ill patients was carried out using PRISMA methodology. A systematic research was performed in PubMed, Embase, and the Cochrane Library (last update, December 2014). Anemic critically ill adult patients admitted to intensive care units and/or anemic patients with acute coronary syndrome in which a restrictive vs. liberal transfusion therapy was compared. mortality. Included studies were subjected to quantifiable analysis, predefined subgroup analysis, trial sequential analysis and predefined sensitivity analysis. Thirty RCT's were initially identified; 6 fulfilled the inclusion criteria, including 2156. There were no differences in mortality between the restrictive and liberal groups (RR: 0.86, 95% CI 0.70-1.05 P=0.14), neither in patients with chronic cardiovascular disease subgroup (RR: 1.13, 95% IC 0.88-1.46 P=0.34). However, there is a trend towards decreased mortality in the subgroup critically ill (RR: 0.86, 95% CI 0.73-1.01 P=0.06); while in the subgroup of patients with acute myocardial infarct seems like it might be a non-significant trend towards increased mortality (RR: 3.85, 95% CI 0.82-18.0 P=0.09). Restrictive strategy is at least as effective to liberal strategy in critically ill patients. Nevertheless, there is insufficient evidence to recommend a restrictive strategy for patients with acute coronary syndrome.

  16. A 725 kb deletion at 22q13.1 chromosomal region including SOX10 gene in a boy with a neurologic variant of Waardenburg syndrome type 2.

    Science.gov (United States)

    Siomou, Elisavet; Manolakos, Emmanouil; Petersen, Michael; Thomaidis, Loretta; Gyftodimou, Yolanda; Orru, Sandro; Papoulidis, Ioannis

    2012-11-01

    Waardenburg syndrome (WS) is a rare (1/40,000) autosomal dominant disorder resulting from melanocyte defects, with varying combinations of sensorineural hearing loss and abnormal pigmentation of the hair, skin, and inner ear. WS is classified into four clinical subtypes (WS1-S4). Six genes have been identified to be associated with the different subtypes of WS, among which SOX10, which is localized within the region 22q13.1. Lately it has been suggested that whole SOX10 gene deletions can be encountered when testing for WS. In this study we report a case of a 13-year-old boy with a unique de novo 725 kb deletion within the 22q13.1 chromosomal region, including the SOX10 gene and presenting clinical features of a neurologic variant of WS2. Copyright © 2012 Elsevier Masson SAS. All rights reserved.

  17. Alpha-1 Adrenoceptor Hyperresponsiveness in Three Neuropathic Pain States: Complex Regional Pain Syndrome 1, Diabetic Peripheral Neuropathic Pain and Central Pain States Following Spinal Cord Injury

    Directory of Open Access Journals (Sweden)

    Robert W Teasell

    2004-01-01

    Full Text Available The pathophysiology of the pain associated with complex regional pain syndrome, spinal cord injury and diabetic peripheral neuropathy is not known. The pain of complex regional pain syndrome has often been attributed to abnormal sympathetic nervous system activity based on the presence of vasomotor instability and a frequently reported positive response, albeit a temporary response, to sympathetic blockade. In contrast, the pain below the level of spinal cord injury and diabetic peripheral neuropathy are generally seen as deafferentation phenomena. Each of these pain states has been associated with abnormal sympathetic nervous system function and increased peripheral alpha-1 adrenoceptor activity. This increased responsiveness may be a consequence of alpha-1 adrenoceptor postsynaptic hypersensitivity, or alpha-2 adrenoceptor presynaptic dysfunction with diminished noradrenaline reuptake, increased concentrations of noradrenaline in the synaptic cleft and increased stimulation of otherwise normal alpha-1 adrenoceptors. Plausible mechanisms based on animal research by which alpha-1 adrenoceptor hyperresponsiveness can lead to chronic neuropathic-like pain have been reported. This raises the intriguing possibility that sympathetic nervous system dysfunction may be an important factor in the generation of pain in many neuropathic pain states. Although results to date have been mixed, there may be a greater role for new drugs which target peripheral alpha-2 adrenoceptors (agonists or alpha-1 adrenoceptors (antagonists.

  18. Regionalized pathology correlates with augmentation of mtDNA copy numbers in a patient with myoclonic epilepsy with ragged-red fibers (MERRF-syndrome.

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    Anja Brinckmann

    Full Text Available Human patients with myoclonic epilepsy with ragged-red fibers (MERRF suffer from regionalized pathology caused by a mutation in the mitochondrial DNA (m.8344A→G. In MERRF-syndrome brain and skeletal muscles are predominantly affected, despite mtDNA being present in any tissue. In the past such tissue-specificity could not be explained by varying mtDNA mutation loads. In search for a region-specific pathology in human individuals we determined the mtDNA/nDNA ratios along with the mutation loads in 43 different post mortem tissue samples of a 16-year-old female MERRF patient and in four previously healthy victims of motor vehicle accidents. In brain and muscle we further determined the quantity of mitochondrial proteins (COX subunits II and IV, transcription factors (NRF1 and TFAM, and VDAC1 (Porin as a marker for the mitochondrial mass. In the patient the mutation loads varied merely between 89-100%. However, mtDNA copy numbers were increased 3-7 fold in predominantly affected brain areas (e.g. hippocampus, cortex and putamen and in skeletal muscle. Similar increases were absent in unaffected tissues (e.g. heart, lung, kidney, liver, and gastrointestinal organs. Such mtDNA copy number increase was not paralleled by an augmentation of mitochondrial mass in some investigated tissues, predominantly in the most affected tissue regions of the brain. We thus conclude that "futile" stimulation of mtDNA replication per se or a secondary failure to increase the mitochondrial mass may contribute to the regionalized pathology seen in MERRF-syndrome.

  19. Three-Year Follow-Up of a Prenatally Ascertained Apparently Non-Mosaic sSMC(10): Delineation of a Non-Critical Region.

    Science.gov (United States)

    Barranco, Laura; Costa, Marta; Lloveras, Elisabet; Ordóñez, Elena; Maiz, Nerea; Hernando, Cristina; Villa, Olaya; Cirigliano, Vincenzo; Plaja, Alberto

    2015-01-01

    Small supernumerary marker chromosomes (sSMC) originating from chromosome 10 are rare and usually found in mosaic form. We present a de novo apparently non-mosaic sSMC(10) prenatally diagnosed in amniotic fluid and postnatally confirmed in peripheral blood. Characterization by array-CGH showed a pericentromeric duplication of 7.1 Mb of chromosome 10. The fetus did not show ultrasound abnormalities, and a normal female phenotype was observed during a 3-year postnatal follow-up. The absence of phenotypic abnormalities in the present case provides evidence of a non-critical pericentromeric region in 10p11.21q11.1 (hg19 35,355,570-42,448,569) associated with a duplication. © 2016 S. Karger AG, Basel.

  20. Phenomena induced by powerful HF pumping towards magnetic zenith with a frequency near the F-region critical frequency and the third electron gyro harmonic frequency

    Directory of Open Access Journals (Sweden)

    N. F. Blagoveshchenskaya

    2009-01-01

    Full Text Available Multi-instrument observational data from an experiment on 13 October 2006 at the EISCAT/HEATING facility at Tromsø, Norway are analysed. The experiment was carried out in the evening hours when the electron density in the F-region dropped, and the HF pump frequency fH was near and then above the critical frequency of the F2 layer. The distinctive feature of this experiment is that the pump frequency was just below the third electron gyro harmonic frequency, while both the HF pump beam and UHF radar beam were directed towards the magnetic zenith (MZ. The HF pump-induced phenomena were diagnosed with several instruments: the bi-static HF radio scatter on the London-Tromsø-St. Petersburg path, the CUTLASS radar in Hankasalmi (Finland, the European Incoherent Scatter (EISCAT UHF radar at Tromsø and the Tromsø ionosonde (dynasonde. The results show thermal electron excitation of the HF-induced striations seen simultaneously from HF bi-static scatter and CUTLASS radar observations, accompanied by increases of electron temperature when the heater frequency was near and then above the critical frequency of the F2 layer by up to 0.4 MHz. An increase of the electron density up to 25% accompanied by strong HF-induced electron heating was observed, only when the heater frequency was near the critical frequency and just below the third electron gyro harmonic frequency. It is concluded that the combined effect of upper hybrid resonance and gyro resonance at the same altitude gives rise to strong electron heating, the excitation of striations, HF ray trapping and extension of HF waves to altitudes where they can excite Langmuir turbulence and fluxes of electrons accelerated to energies that produce ionization.

  1. Phenomena induced by powerful HF pumping towards magnetic zenith with a frequency near the F-region critical frequency and the third electron gyro harmonic frequency

    Directory of Open Access Journals (Sweden)

    N. F. Blagoveshchenskaya

    2009-01-01

    Full Text Available Multi-instrument observational data from an experiment on 13 October 2006 at the EISCAT/HEATING facility at Tromsø, Norway are analysed. The experiment was carried out in the evening hours when the electron density in the F-region dropped, and the HF pump frequency fH was near and then above the critical frequency of the F2 layer. The distinctive feature of this experiment is that the pump frequency was just below the third electron gyro harmonic frequency, while both the HF pump beam and UHF radar beam were directed towards the magnetic zenith (MZ. The HF pump-induced phenomena were diagnosed with several instruments: the bi-static HF radio scatter on the London-Tromsø-St. Petersburg path, the CUTLASS radar in Hankasalmi (Finland, the European Incoherent Scatter (EISCAT UHF radar at Tromsø and the Tromsø ionosonde (dynasonde. The results show thermal electron excitation of the HF-induced striations seen simultaneously from HF bi-static scatter and CUTLASS radar observations, accompanied by increases of electron temperature when the heater frequency was near and then above the critical frequency of the F2 layer by up to 0.4 MHz. An increase of the electron density up to 25% accompanied by strong HF-induced electron heating was observed, only when the heater frequency was near the critical frequency and just below the third electron gyro harmonic frequency. It is concluded that the combined effect of upper hybrid resonance and gyro resonance at the same altitude gives rise to strong electron heating, the excitation of striations, HF ray trapping and extension of HF waves to altitudes where they can excite Langmuir turbulence and fluxes of electrons accelerated to energies that produce ionization.

  2. Critical significance of the region between Helix 1 and 2 for efficient dominant-negative inhibition by conversion-incompetent prion protein.

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    Yuzuru Taguchi

    Full Text Available Prion diseases are fatal infectious neurodegenerative disorders in man and animals associated with the accumulation of the pathogenic isoform PrP(Sc of the host-encoded prion protein (PrP(c. A profound conformational change of PrP(c underlies formation of PrP(Sc and prion propagation involves conversion of PrP(c substrate by direct interaction with PrP(Sc template. Identifying the interfaces and modalities of inter-molecular interactions of PrPs will highly advance our understanding of prion propagation in particular and of prion-like mechanisms in general. To identify the region critical for inter-molecular interactions of PrP, we exploited here dominant-negative inhibition (DNI effects of conversion-incompetent, internally-deleted PrP (ΔPrP on co-expressed conversion-competent PrP. We created a series of ΔPrPs with different lengths of deletions in the region between first and second α-helix (H1∼H2 which was recently postulated to be of importance in prion species barrier and PrP fibril formation. As previously reported, ΔPrPs uniformly exhibited aberrant properties including detergent insolubility, limited protease digestion resistance, high-mannose type N-linked glycans, and intracellular localization. Although formerly controversial, we demonstrate here that ΔPrPs have a GPI anchor attached. Surprisingly, despite very similar biochemical and cell-biological properties, DNI efficiencies of ΔPrPs varied significantly, dependant on location and inversely correlated with the size of deletion. This data demonstrates that H1∼H2 and the region C-terminal to it are critically important for efficient DNI. It also suggests that this region is involved in PrP-PrP interaction and conversion of PrP(C into PrP(Sc. To reconcile the paradox of how an intracellular PrP can exert DNI, we demonstrate that ΔPrPs are subject to both proteasomal and lysosomal/autophagic degradation pathways. Using autophagy pathways ΔPrPs obtain access to the locale

  3. Physiotherapy for pain and disability in adults with complex regional pain syndrome (CRPS) types I and II.

    Science.gov (United States)

    Smart, Keith M; Wand, Benedict M; O'Connell, Neil E

    2016-02-24

    Complex regional pain syndrome (CRPS) is a painful and disabling condition that usually manifests in response to trauma or surgery. When it occurs, it is associated with significant pain and disability. It is thought to arise and persist as a consequence of a maladaptive pro-inflammatory response and disturbances in sympathetically-mediated vasomotor control, together with maladaptive peripheral and central neuronal plasticity. CRPS can be classified into two types: type I (CRPS I) in which a specific nerve lesion has not been identified, and type II (CRPS II) where there is an identifiable nerve lesion. Guidelines recommend the inclusion of a variety of physiotherapy interventions as part of the multimodal treatment of people with CRPS, although their effectiveness is not known. To determine the effectiveness of physiotherapy interventions for treating the pain and disability associated with CRPS types I and II. We searched the following databases from inception up to 12 February 2015: CENTRAL (the Cochrane Library), MEDLINE, EMBASE, CINAHL, PsycINFO, LILACS, PEDro, Web of Science, DARE and Health Technology Assessments, without language restrictions, for randomised controlled trials (RCTs) of physiotherapy interventions for treating pain and disability in people CRPS. We also searched additional online sources for unpublished trials and trials in progress. We included RCTs of physiotherapy interventions (including manual therapy, therapeutic exercise, electrotherapy, physiotherapist-administered education and cortically directed sensory-motor rehabilitation strategies) employed in either a stand-alone fashion or in combination, compared with placebo, no treatment, another intervention or usual care, or of varying physiotherapy interventions compared with each other in adults with CRPS I and II. Our primary outcomes of interest were patient-centred outcomes of pain intensity and functional disability. Two review authors independently evaluated those studies

  4. 'Pseudofailure' of spinal cord stimulation for neuropathic pain following a new severe noxious stimulus: learning points from a case series of failed spinal cord stimulation