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Sample records for duplication syndrome differentiated

  1. MECP2 Duplication Syndrome

    DEFF Research Database (Denmark)

    Signorini, Cinzia; De Felice, Claudio; Leoncini, Silvia

    2016-01-01

    Rett syndrome (RTT) and MECP2 duplication syndrome (MDS) are neurodevelopmental disorders caused by alterations in the methyl-CpG binding protein 2 (MECP2) gene expression. A relationship between MECP2 loss-of-function mutations and oxidative stress has been previously documented in RTT patients...... and murine models. To date, no data on oxidative stress have been reported for the MECP2 gain-of-function mutations in patients with MDS. In the present work, the pro-oxidant status and oxidative fatty acid damage in MDS was investigated (subjects n = 6) and compared to RTT (subjects n = 24) and healthy...... condition (subjects n = 12). Patients with MECP2 gain-of-function mutations showed increased oxidative stress marker levels (plasma non-protein bound iron, intraerythrocyte non-protein bound iron, F2-isoprostanes, and F4-neuroprostanes), as compared to healthy controls (P ≤ 0.05). Such increases were...

  2. Genetics Home Reference: 7q11.23 duplication syndrome

    Science.gov (United States)

    ... Health Conditions 7q11.23 duplication syndrome 7q11.23 duplication syndrome Enable Javascript to view the expand/collapse ... PDF Open All Close All Description 7q11.23 duplication syndrome is a condition that can cause a ...

  3. Duplication 9q34 syndrome.

    OpenAIRE

    Allderdice, P. W.; Eales, B; Onyett, H; Sprague, W; Henderson, K; Lefeuvre, P A; PAL G

    1983-01-01

    Phenotypic, karyotypic, and developmental homology between affected children of carriers of an inverted insertion (9) (q22.1q34.3q34.1) led to recognition of a new chromosome syndrome: dup 9q34. Individuals with dup 9q34 have slight psychomotor retardation, understand simple directions, and acquire a limited vocabulary. In childhood, many are hyperactive. Clinical features include low birth weight, normal birth length, and initial poor feeding and thriving. Musculo-skeletal systems are affect...

  4. Duplication 9q34 syndrome.

    Science.gov (United States)

    Allderdice, P W; Eales, B; Onyett, H; Sprague, W; Henderson, K; Lefeuvre, P A; Pal, G

    1983-09-01

    Phenotypic, karyotypic, and developmental homology between affected children of carriers of an inverted insertion (9) (q22.1q34.3q34.1) led to recognition of a new chromosome syndrome: dup 9q34. Individuals with dup 9q34 have slight psychomotor retardation, understand simple directions, and acquire a limited vocabulary. In childhood, many are hyperactive. Clinical features include low birth weight, normal birth length, and initial poor feeding and thriving. Musculo-skeletal systems are affected: there are joint contractures, long thin limbs, and striking arachnodactyly. There is abnormal implantation of the thumb, increased space between the first and second fingers, and excess digital creases. Marfan syndrome was a provisional diagnosis for several cases prior to cytogenetic analysis. Cardiovascular and ocular systems are minimally affected, erythema and heart murmurs occur, and ptosis and strabismus are frequent, but lens dislocation is not observed. Features at birth include: dolichocephaly, facial asymmetry, narrow horizontal palpebral fissures, microphthalmia, prominent nasal bridge, small mouth, thin upper lip with down-turned corners, and slight retrognathia. In older children, retrognathia is diminished and the nose becomes long and narrow. The new culture and chromosome banding techniques enable sorting of cases with the distal dup 9q phenotype into two groups. The cases with a longer dup 9q are more likely to develop with life-threatening congenital anomalies. The cases with the shorter dup 9q34 have a less severe long-term prognosis and will benefit, together with their parents, from special education. Female carriers of the inv ins(9) (q22.1q34.3q34.1) have about a 31% risk in each pregnancy to conceive a fetus affected by the dup 9q34 syndrome. A comparable figure is not yet available for male carriers.

  5. MR Imaging Findings in Xp21.2 Duplication Syndrome

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    Whitehead, Matthew T; Helman, Guy; Gropman, Andrea L

    2016-01-01

    Xp21.2 duplication syndrome is a rare genetic disorder of undetermined prevalence and clinical relevance. As the use of chromosomal microarray has become first line for the work-up of childhood developmental delay, more gene deletions and duplications have been recognized. To the best of our knowledge, the imaging findings of Xp21.2 duplication syndrome have not been reported. We report a case of a 33 month-old male referred for developmental delay that was found to have an Xp21.2 duplication containing IL1RAPL1 and multiple midline brain malformations.

  6. Pseudo-differentiation syndrome

    Directory of Open Access Journals (Sweden)

    Dina Khalaf

    2011-12-01

    Full Text Available A patient with relapsed acute myeloid leukemia (AML (M2 FAB classification developed a differentiating syndrome upon receiving Decitabine therapy given with palliative intent. The patient presented with high grade fever, constitutional symptoms and severe chest symptoms with no underlying lung condition. Chest x-ray (CXR showed diffuse pulmonary infiltrates. Septic work up followed by intravenous broad spectrum antimicrobials did not improve his condition. Pan cultures’ results were repeatedly negative. Treatment with high dose Dexamethasone (DXM resulted in marked clinical and radiological improvement. Our patient initially presented with relapsed AML (M2 Fab classification with t (8; 21; negative FMS-like tyrosine kinase -internal tandem duplication (FLT3-ITD which are all good prognostic factors, yet the patient had an atypical clinical course with early frequent relapses, differentiation syndrome associated with Decitabine therapy and late in his disease, he developed a granulocytic sarcoma.

  7. RECTAL DUPLICATION CYST IN PREVIOUS ANORECTAL MALFORMATION AND DOWN SYNDROME

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    A. Burgio

    2012-12-01

    Full Text Available Gastrointestinal (GI tract duplications are rare congenital malformations. Most of them occur in the ileum and only 1-5%, of all duplication, were in the rectum. Different clinical features including chronic constipation, rectal prolapsed or polips. We report on a 4-years-old girl with Down syndrome and anorectal malformation (ARM who was found to have a rectal duplication cyst.

  8. Grebe syndrome with bilateral fibular hemimelia and thumb duplication

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    Rao, Narasimha; Joseph, Benjamin [Department of Orthopaedics, Kasturba Medical College, Karnataka State (India)

    2002-03-01

    Grebe syndrome is a rare recessively inherited form of short-limbed dwarfism. Among the skeletal anomalies reported in the past, complete fibular hemimelia and thumb duplication have not been documented. We report a case of Grebe syndrome with these associated anomalies and review the various skeletal anomalies reported in the literature related to this syndrome. Awareness of the skeletal anomalies that can occur in this syndrome should enable an accurate diagnosis. (orig.)

  9. Williams Syndrome and 15q Duplication: Coincidence versus Association.

    Science.gov (United States)

    Khokhar, Aditi; Agarwal, Swashti; Perez-Colon, Sheila

    2017-01-01

    Williams syndrome is a multisystem disorder caused by contiguous gene deletion in 7q11.23, commonly associated with distinctive facial features, supravalvular aortic stenosis, short stature, idiopathic hypercalcemia, developmental delay, joint laxity, and a friendly personality. The clinical features of 15q11q13 duplication syndrome include autism, mental retardation, ataxia, seizures, developmental delay, and behavioral problems. We report a rare case of a girl with genetically confirmed Williams syndrome and coexisting 15q duplication syndrome. The patient underwent treatment for central precocious puberty and later presented with primary amenorrhea. The karyotype revealed 47,XX,+mar. FISH analysis for the marker chromosome showed partial trisomy/tetrasomy for proximal chromosome 15q (15p13q13). FISH using an ELN-specific probe demonstrated a deletion in the Williams syndrome critical region in 7q11.23. To our knowledge, a coexistence of Williams syndrome and 15q duplication syndrome has not been reported in the literature. Our patient had early pubertal development, which has been described in some patients with Williams syndrome. However, years later after discontinuing gonadotropin-releasing hormone analogue treatment, she developed primary amenorrhea.

  10. Novel clinical finding in MECP2 duplication syndrome

    OpenAIRE

    Budisteanu, Magdalena; Papuc, Sorina Mihaela; Tutulan-Cunita, Andreea; Budisteanu, Bogdan; Arghir, Aurora

    2011-01-01

    Novel clinical finding in MECP2 duplication syndrome phone: +40-213349068 (Budisteanu, Magdalena) (Budisteanu, Magdalena) ?Victor Babes? National Institute of Pathology - 99-101 Splaiul Independentei, Sect. 5 - 050096 - Bucharest - ROMANIA (Budisteanu, Magdalena) ?Prof. Dr. Alexandru Obregia? Clinical Hospital of Psychiatry - 10-12 Berceni Av., Sector 4 - 041914 - Bucharest - ROMANIA (Budisteanu, Magdalena) ?Victor Babes? National Institute of Patholog...

  11. Pseudo-differentiation syndrome

    Directory of Open Access Journals (Sweden)

    Fathi Jehani

    2011-01-01

    Full Text Available

    A patient with relapsed acute myeloid leukemia (AML (M2 FAB classification developed a differentiating syndrome upon receiving Decitabine therapy given with palliative intent. The patient presented with high grade fever, constitutional symptoms and severe chest symptoms with no underlying lung condition. Chest x-ray (CXR showed diffuse pulmonary infiltrates. Septic work up followed by intravenous broad spectrum antimicrobials did not improve his condition. Pan cultures’ results were repeatedly negative. Treatment with high dose Dexamethasone (DXM resulted in marked clinical and radiological improvement.

    Our patient initially presented with relapsed AML (M2 Fab classification with t (8; 21; negative FMS-like tyrosine kinase -internal tandem duplication (FLT3-ITD which are all good prognostic factors, yet the patient had an atypical clinical course with early frequent relapses, differentiation syndrome associated with Decitabine therapy and late in his disease, he developed a granulocytic sarcoma.

  12. Yeast genome duplication was followed by asynchronous differentiation of duplicated genes

    DEFF Research Database (Denmark)

    Langkjær, Rikke Breinhold; Cliften, P.F.; Johnston, M.

    2003-01-01

    Gene redundancy has been observed in yeast, plant and human genomes, and is thought to be a consequence of whole-genome duplications(1-3). Baker's yeast, Saccharomyces cerevisiae, contains several hundred duplicated genes(1). Duplication(s) could have occurred before or after a given speciation. ...

  13. Brief Report: Regression Timing and Associated Features in "MECP2" Duplication Syndrome

    Science.gov (United States)

    Peters, S. U.; Hundley, R. J.; Wilson, A. K.; Carvalho, C. M. B.; Lupski, J. R.; Ramocki, M. B.

    2013-01-01

    The aim of this study was to determine the frequency, timing, and associated features of developmental regression in "MECP2" duplication syndrome. We also examined whether duplication size was associated with regression. Comprehensive psychological evaluations were used to assess 17 boys with "MECP2" duplication syndrome.…

  14. Clinical characterization and identification of duplication breakpoints in a Japanese family with Xq28 duplication syndrome including MECP2.

    Science.gov (United States)

    Fukushi, Daisuke; Yamada, Kenichiro; Nomura, Noriko; Naiki, Misako; Kimura, Reiko; Yamada, Yasukazu; Kumagai, Toshiyuki; Yamaguchi, Kumiko; Miyake, Yoshishige; Wakamatsu, Nobuaki

    2014-04-01

    Xq28 duplication syndrome including MECP2 is a neurodevelopmental disorder characterized by axial hypotonia at infancy, severe intellectual disability, developmental delay, mild characteristic facial appearance, epilepsy, regression, and recurrent infections in males. We identified a Japanese family of Xq28 duplications, in which the patients presented with cerebellar ataxia, severe constipation, and small feet, in addition to the common clinical features. The 488-kb duplication spanned from L1CAM to EMD and contained 17 genes, two pseudo genes, and three microRNA-coding genes. FISH and nucleotide sequence analyses demonstrated that the duplication was tandem and in a forward orientation, and the duplication breakpoints were located in AluSc at the EMD side, with a 32-bp deletion, and LTR50 at the L1CAM side, with "tc" and "gc" microhomologies at the duplication breakpoints, respectively. The duplicated segment was completely segregated from the grandmother to the patients. These results suggest that the duplication was generated by fork-stalling and template-switching at the AluSc and LTR50 sites. This is the first report to determine the size and nucleotide sequences of the duplicated segments at Xq28 of three generations of a family and provides the genotype-phenotype correlation of the patients harboring the specific duplicated segment.

  15. Interstitial duplication of proximal 22q: Phenotypic overlap with cat eye syndrome

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    Knoll, J.H.M.; Asamoah, A.; Wagstaff, J. [Children`s Hospital, Boston, MA (United States)] [and others

    1995-01-16

    We describe a child with downslanting palpebral fissures, preauricular malfunctions, congenital heart defect (total anomalous pulmonary venous return), unilateral absence of a kidney, and developmental delay with an apparent interstitial duplication of proximal 22q. Fluorescent in situ hybridization (FISH) analysis showed duplication of the IGLC locus, and C-banding of the duplicated region was negative. The duplication appears to involve 22q11.2-q12. Although the child has neither colobomas nor microphthalmia, he shows phenotypic overlap with with the cat eye syndrome, which is caused by a supernumerary bisatellited chromosome arising from inverted duplication of the short arm and proximal long arm of chromosome 22. Further molecular studies of this patient should help to define the regions responsible for the manifestations of cat eye syndrome. 17 refs., 3 figs., 1 tab.

  16. Caudal Duplication Syndrome: the Vital Role of a Multidisciplinary Approach and Staged Correction

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    Samuk, Inbal; Levitt, Marc; Dlugy, Elena; Kravarusic, Dragan; Ben-Meir, David; Rajz, Gustavo; Konen, Osnat; Freud, Enrique

    2015-01-01

    Caudal duplication syndrome is a rare entity that describes the association between congenital anomalies involving caudal structures and may have a wide spectrum of clinical manifestations. A full-term male presented with combination of anomalies including anorectal malformation, duplication of the colon and lower urinary tract, split of the lower spine, and lipomyelomeningocele with tethering of the cord. We report this exceptional case of caudal duplication syndrome with special emphasis on surgical strategy and approach combining all disciplines involved. The purpose of this report is to present the pathology, assessment, and management strategy of this complex case. PMID:28018799

  17. Caudal Duplication Syndrome: the Vital Role of a Multidisciplinary Approach and Staged Correction.

    Science.gov (United States)

    Samuk, Inbal; Levitt, Marc; Dlugy, Elena; Kravarusic, Dragan; Ben-Meir, David; Rajz, Gustavo; Konen, Osnat; Freud, Enrique

    2016-12-01

    Caudal duplication syndrome is a rare entity that describes the association between congenital anomalies involving caudal structures and may have a wide spectrum of clinical manifestations. A full-term male presented with combination of anomalies including anorectal malformation, duplication of the colon and lower urinary tract, split of the lower spine, and lipomyelomeningocele with tethering of the cord. We report this exceptional case of caudal duplication syndrome with special emphasis on surgical strategy and approach combining all disciplines involved. The purpose of this report is to present the pathology, assessment, and management strategy of this complex case.

  18. 7q11.23 Duplication Syndrome: Physical Characteristics and Natural History

    OpenAIRE

    2015-01-01

    In order to describe the physical characteristics, medical complications, and natural history of classic 7q11.23 duplication syndrome [hereafter Dup7 (MIM 609757)], reciprocal duplication of the region deleted in Williams syndrome [hereafter WS (MIM 194050)], we systematically evaluated 53 individuals aged 1.25–21.25 years and 11 affected adult relatives identified in cascade testing. In this series, 27% of probands with Dup7 had an affected parent. Seven of the 26 de novo duplications that w...

  19. Partial duplications of the ATRX gene cause the ATR-X syndrome.

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    Thienpont, Bernard; de Ravel, Thomy; Van Esch, Hilde; Van Schoubroeck, Dominique; Moerman, Philippe; Vermeesch, Joris Robert; Fryns, Jean-Pierre; Froyen, Guy; Lacoste, Caroline; Badens, Catherine; Devriendt, Koen

    2007-10-01

    ATR-X syndrome is a rare syndromic X-linked mental retardation disorder. We report that some of the patients suspected of ATR-X carry large intragenic duplications in the ATRX gene, leading to an absence of ATRX mRNA and of the protein. These findings underscore the need for including quantitative analyses to mutation analysis of the ATRX gene.

  20. Brief report: regression timing and associated features in MECP2 duplication syndrome.

    Science.gov (United States)

    Peters, S U; Hundley, R J; Wilson, A K; Carvalho, C M B; Lupski, J R; Ramocki, M B

    2013-10-01

    The aim of this study was to determine the frequency, timing, and associated features of developmental regression in MECP2 duplication syndrome. We also examined whether duplication size was associated with regression. Comprehensive psychological evaluations were used to assess 17 boys with MECP2 duplication syndrome. Information about regression was gathered via parent report. Eight of 17 boys exhibited regression in language skills, while seven of 17 exhibited regression in other skill areas. Regression in "other skill" areas coincided with seizure onset and with a prior autism diagnosis in six of seven participants. Regression was not associated with duplication size. Questions remain as to why some boys regress, and future work is necessary to understand the underlying mechanism(s) that causes regression.

  1. Gene Duplication, Population Genomics, and Species-Level Differentiation within a Tropical Mountain Shrub

    Science.gov (United States)

    Mastretta-Yanes, Alicia; Zamudio, Sergio; Jorgensen, Tove H.; Arrigo, Nils; Alvarez, Nadir; Piñero, Daniel; Emerson, Brent C.

    2014-01-01

    Gene duplication leads to paralogy, which complicates the de novo assembly of genotyping-by-sequencing (GBS) data. The issue of paralogous genes is exacerbated in plants, because they are particularly prone to gene duplication events. Paralogs are normally filtered from GBS data before undertaking population genomics or phylogenetic analyses. However, gene duplication plays an important role in the functional diversification of genes and it can also lead to the formation of postzygotic barriers. Using populations and closely related species of a tropical mountain shrub, we examine 1) the genomic differentiation produced by putative orthologs, and 2) the distribution of recent gene duplication among lineages and geography. We find high differentiation among populations from isolated mountain peaks and species-level differentiation within what is morphologically described as a single species. The inferred distribution of paralogs among populations is congruent with taxonomy and shows that GBS could be used to examine recent gene duplication as a source of genomic differentiation of nonmodel species. PMID:25223767

  2. SHOX duplications found in some cases with type I Mayer-Rokitansky-Kuster-Hauser syndrome.

    Science.gov (United States)

    Gervasini, Cristina; Grati, Francesca Romana; Lalatta, Faustina; Tabano, Silvia; Gentilin, Barbara; Colapietro, Patrizia; De Toffol, Simona; Frontino, Giada; Motta, Francesca; Maitz, Silvia; Bernardini, Laura; Dallapiccola, Bruno; Fedele, Luigi; Larizza, Lidia; Miozzo, Monica

    2010-10-01

    The Mayer-Rokitansky-Küster-Hauser syndrome is defined as congenital aplasia of müllerian ducts derived structures in females with a normal female chromosomal and gonadal sex. Most cases with Mayer-Rokitansky-Küster-Hauser syndrome are sporadic, although familial cases have been reported. The genetic basis of Mayer-Rokitansky-Küster-Hauser syndrome is largely unknown and seems heterogeneous, and a small number of cases were found to have mutations in the WNT4 gene. The aim of this study was to identify possible recurrent submicroscopic imbalances in a cohort of familial and sporadic cases with Mayer-Rokitansky-Küster-Hauser syndrome. Multiplex ligation-dependent probe amplification was used to screen the subtelomeric sequences of all chromosomes in 30 patients with Mayer-Rokitansky-Küster-Hauser syndrome (sporadic, n = 27 and familial, n = 3). Segregation analysis and pyrosequencing were applied to validate the MLPA results in the informative family. Partial duplication of the Xpter pseudoautosomal region 1 containing the short stature homeobox (SHOX) gene was detected in five patients with Mayer-Rokitansky-Küster-Hauser syndrome (familial, n = 3 and sporadic, n = 2) and not in 53 healthy controls. The duplications were not overlapping, and SHOX was never entirely duplicated. Haplotyping in the informative family revealed that SHOX gene duplication was inherited from the unaffected father and was absent in two healthy sisters. Partial duplication of SHOX gene is found in some cases with both familial and sporadic Mayer-Rokitansky-Küster-Hauser type I syndrome.

  3. PARTIAL 3Q DUPLICATION SYNDROME AND ASSIGNMENT OF D3S5 TO 3Q25-3Q28

    NARCIS (Netherlands)

    VANESSEN, AJ; KOK, K; van den Berg, Anke; DEJONG, B; STELLINK, F; BOS, AF; SCHEFFER, H; BUYS, CHCM

    1991-01-01

    We report a girl with a de novo duplication of the distal part of the long arm of chromosome 3 and review the literature. Our patient had the facial characteristics and many other anomalies of the partial 3q duplication syndrome. As a hitherto undescribed symptom in partial 3q trisomy syndrome, she

  4. Four unrelated patients with Lubs X-linked mental retardation syndrome and different Xq28 duplications.

    Science.gov (United States)

    Bartsch, Oliver; Gebauer, Konstanze; Lechno, Stanislav; van Esch, Hilde; Froyen, Guy; Bonin, Michael; Seidel, Jörg; Thamm-Mücke, Barbara; Horn, Denise; Klopocki, Eva; Hertzberg, Christoph; Zechner, Ulrich; Haaf, Thomas

    2010-02-01

    The Lubs X-linked mental retardation syndrome (MRXSL) is caused by small interstitial duplications at distal Xq28 including the MECP2 gene. Here we report on four novel male patients with MRXSL and different Xq28 duplications delineated by microarray-based chromosome analysis. All mothers were healthy carriers of the duplications. Consistent with an earlier report [Bauters et al. (2008); Genome Res 18: 847-858], the distal breakpoints of all four Xq28 duplications were located in regions containing low-copy repeats (LCRs; J, K, and L groups), which may facilitate chromosome breakage and reunion events. The proximal breakpoint regions did not contain known LCRs. Interestingly, we identified apparent recurrent breakage sites in the proximal and distal breakpoint regions. Two of the four patients displayed more complex rearrangements. Patient 2 was endowed with a quadruplicated segment and a small triplication within the duplication, whereas patient 3 displayed two triplicated segments within the duplication, supporting that the Fork Stalling and Template Switching (FoSTeS) model may explain a subset of the structural rearrangements in Xq28. Clinically, muscular hypertonia and contractures of large joints may present a major problem in children with MRXSL. Because injection of botulinum toxin (BT-A; Botox) proved to be extremely helpful for patient 1, we recommend consideration of Botox treatment in other patients with MRXSL and severe joint contractures.

  5. Duplication of mental nerve in a patient with cleft lip-palate and rubella syndrome.

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    Goodday, R H; Precious, D S

    1988-02-01

    A case of duplication of the mental nerve in a patient with cleft lip, cleft palate, and rubella syndrome is presented. The most vulnerable period of fetal infection by rubella virus corresponds with the critical period of development of the maxilla, mandible, and corresponding orofacial structures. The significance of duplication of the mental nerve is discussed in relation to the influence that this anatomic structure has on the growth and development of the mandible. The concept of activisms to explain such anomalies is reviewed.

  6. Autism spectrum disorder, Klinefelter syndrome, and chromosome 3p21.31 duplication: a case report.

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    Stuart, Scott W; King, Casey H; Pai, G Shashidar

    2007-12-18

    Autism spectrum disorders are heterogeneous in nature with idiopathic and genetic origins. We present a 7-year-old boy with a long history of multiple behavioral concerns, poor school performance, repetitive/compulsive tendencies, poor social skills, and language delays. A multidisciplinary evaluation concluded that the patient met full criteria for autism. A genetic evaluation demonstrated Klinefelter syndrome 47, XXY karyotype with concurrent duplication of 3p21.31 by microarray analysis. Maternal genetic analysis demonstrated the same 3p21.31 duplication. The potential implication with regard to autism spectrum disorders has not been previously discussed in the literature.

  7. Transcriptome profiling of white adipose tissue in a mouse model for 15q duplication syndrome

    Directory of Open Access Journals (Sweden)

    Xiaoxi Liu

    2015-09-01

    Full Text Available Obesity is not only associated with unhealthy lifestyles, but also linked to genetic predisposition. Previously, we generated an autism mouse model (patDp/+ that carries a 6.3 Mb paternal duplication homologous to the human 15q11–q13 locus. Chromosomal abnormalities in this region are known to cause autism spectrum disorder, Prader–Willi syndrome, and Angelman syndrome in humans. We found that, in addition to autistic-like behaviors, patDp/+ mice display late-onset obesity and hypersensitivity to a high-fat diet. These phenotypes are likely to be the results of genetic perturbations since the energy expenditures and food intakes of patDp/+ mice do not significantly differ from those of wild-type mice. Intriguingly, we found that an enlargement of adipose cells precedes the onset of obesity in patDp/+ mice. To understand the underlying molecular networks responsible for this pre-obese phenotype, we performed transcriptome profiling of white adipose tissue from patDp/+ and wild-type mice using microarray. We identified 230 genes as differentially expressed genes. Sfrp5 — a gene whose expression is positively correlated with adipocyte size, was found to be up-regulated, and Fndc5, a potent inducer of brown adipogenesis was identified to be the top down-regulated gene. Subsequent pathway analysis highlighted a set of 35 molecules involved in energy production, lipid metabolism, and small molecule biochemistry as the top candidate biological network responsible for the pre-obese phenotype of patDp/+. The microarray data were deposited in NCBI Gene Expression Omnibus database with accession number GSE58191. Ultimately, our dataset provides novel insights into the molecular mechanism of obesity and demonstrated that patDp/+ is a valuable mouse model for obesity research.

  8. A Quantitative Electrophysiological Biomarker of Duplication 15q11.2-q13.1 Syndrome

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    Frohlich, Joel; Senturk, Damla; Saravanapandian, Vidya; Golshani, Peyman; Reiter, Lawrence T.; Sankar, Raman; Thibert, Ronald L.; DiStefano, Charlotte; Huberty, Scott; Cook, Edwin H.; Jeste, Shafali S.

    2016-01-01

    Background Duplications of 15q11.2-q13.1 (Dup15q syndrome) are highly penetrant for autism spectrum disorder (ASD). A distinct electrophysiological (EEG) pattern characterized by excessive activity in the beta band has been noted in clinical reports. We asked whether EEG power in the beta band, as well as in other frequency bands, distinguished children with Dup15q syndrome from those with non-syndromic ASD and then examined the clinical correlates of this electrophysiological biomarker in Dup15q syndrome. Methods In the first study, we recorded spontaneous EEG from children with Dup15q syndrome (n = 11), age-and-IQ-matched children with ASD (n = 10) and age-matched typically developing (TD) children (n = 9) and computed relative power in 6 frequency bands for 9 regions of interest (ROIs). Group comparisons were made using a repeated measures analysis of variance. In the second study, we recorded spontaneous EEG from a larger cohort of individuals with Dup15q syndrome (n = 27) across two sites and examined age, epilepsy, and duplication type as predictors of beta power using simple linear regressions. Results In the first study, spontaneous beta1 (12–20 Hz) and beta2 (20–30 Hz) power were significantly higher in Dup15q syndrome compared with both comparison groups, while delta (1–4 Hz) was significantly lower than both comparison groups. Effect sizes in all three frequency bands were large (|d| > 1). In the second study, we found that beta2 power was significantly related to epilepsy diagnosis in Dup15q syndrome. Conclusions Here, we have identified an electrophysiological biomarker of Dup15q syndrome that may facilitate clinical stratification, treatment monitoring, and measurement of target engagement for future clinical trials. Future work will investigate the genetic and neural underpinnings of this electrophysiological signature as well as the functional consequences of excessive beta oscillations in Dup15q syndrome. PMID:27977700

  9. MECP2 Duplication Syndrome: Evidence of Enhanced Oxidative Stress. A Comparison with Rett Syndrome.

    Science.gov (United States)

    Signorini, Cinzia; De Felice, Claudio; Leoncini, Silvia; Møller, Rikke S; Zollo, Gloria; Buoni, Sabrina; Cortelazzo, Alessio; Guerranti, Roberto; Durand, Thierry; Ciccoli, Lucia; D'Esposito, Maurizio; Ravn, Kirstine; Hayek, Joussef

    2016-01-01

    Rett syndrome (RTT) and MECP2 duplication syndrome (MDS) are neurodevelopmental disorders caused by alterations in the methyl-CpG binding protein 2 (MECP2) gene expression. A relationship between MECP2 loss-of-function mutations and oxidative stress has been previously documented in RTT patients and murine models. To date, no data on oxidative stress have been reported for the MECP2 gain-of-function mutations in patients with MDS. In the present work, the pro-oxidant status and oxidative fatty acid damage in MDS was investigated (subjects n = 6) and compared to RTT (subjects n = 24) and healthy condition (subjects n = 12). Patients with MECP2 gain-of-function mutations showed increased oxidative stress marker levels (plasma non-protein bound iron, intraerythrocyte non-protein bound iron, F2-isoprostanes, and F4-neuroprostanes), as compared to healthy controls (P ≤ 0.05). Such increases were similar to those observed in RTT patients except for higher plasma F2-isoprostanes levels (P < 0.0196). Moreover, plasma levels of F2-isoprostanes were significantly correlated (P = 0.0098) with the size of the amplified region. The present work shows unique data in patients affected by MDS. For the first time MECP2 gain-of-function mutations are indicated to be linked to an oxidative damage and related clinical symptoms overlapping with those of MECP2 loss-of-function mutations. A finely tuned balance of MECP2 expression appears to be critical to oxidative stress homeostasis, thus shedding light on the relevance of the redox balance in the central nervous system integrity.

  10. MECP2 Duplication Syndrome: Evidence of Enhanced Oxidative Stress. A Comparison with Rett Syndrome.

    Directory of Open Access Journals (Sweden)

    Cinzia Signorini

    Full Text Available Rett syndrome (RTT and MECP2 duplication syndrome (MDS are neurodevelopmental disorders caused by alterations in the methyl-CpG binding protein 2 (MECP2 gene expression. A relationship between MECP2 loss-of-function mutations and oxidative stress has been previously documented in RTT patients and murine models. To date, no data on oxidative stress have been reported for the MECP2 gain-of-function mutations in patients with MDS. In the present work, the pro-oxidant status and oxidative fatty acid damage in MDS was investigated (subjects n = 6 and compared to RTT (subjects n = 24 and healthy condition (subjects n = 12. Patients with MECP2 gain-of-function mutations showed increased oxidative stress marker levels (plasma non-protein bound iron, intraerythrocyte non-protein bound iron, F2-isoprostanes, and F4-neuroprostanes, as compared to healthy controls (P ≤ 0.05. Such increases were similar to those observed in RTT patients except for higher plasma F2-isoprostanes levels (P < 0.0196. Moreover, plasma levels of F2-isoprostanes were significantly correlated (P = 0.0098 with the size of the amplified region. The present work shows unique data in patients affected by MDS. For the first time MECP2 gain-of-function mutations are indicated to be linked to an oxidative damage and related clinical symptoms overlapping with those of MECP2 loss-of-function mutations. A finely tuned balance of MECP2 expression appears to be critical to oxidative stress homeostasis, thus shedding light on the relevance of the redox balance in the central nervous system integrity.

  11. A single enhancer regulating the differential expression of duplicated red-sensitive opsin genes in zebrafish.

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    Taro Tsujimura

    2010-12-01

    Full Text Available A fundamental step in the evolution of the visual system is the gene duplication of visual opsins and differentiation between the duplicates in absorption spectra and expression pattern in the retina. However, our understanding of the mechanism of expression differentiation is far behind that of spectral tuning of opsins. Zebrafish (Danio rerio have two red-sensitive cone opsin genes, LWS-1 and LWS-2. These genes are arrayed in a tail-to-head manner, in this order, and are both expressed in the long member of double cones (LDCs in the retina. Expression of the longer-wave sensitive LWS-1 occurs later in development and is thus confined to the peripheral, especially ventral-nasal region of the adult retina, whereas expression of LWS-2 occurs earlier and is confined to the central region of the adult retina, shifted slightly to the dorsal-temporal region. In this study, we employed a transgenic reporter assay using fluorescent proteins and P1-artificial chromosome (PAC clones encompassing the two genes and identified a 0.6-kb "LWS-activating region" (LAR upstream of LWS-1, which regulates expression of both genes. Under the 2.6-kb flanking upstream region containing the LAR, the expression pattern of LWS-1 was recapitulated by the fluorescent reporter. On the other hand, when LAR was directly conjugated to the LWS-2 upstream region, the reporter was expressed in the LDCs but also across the entire outer nuclear layer. Deletion of LAR from the PAC clones drastically lowered the reporter expression of the two genes. These results suggest that LAR regulates both LWS-1 and LWS-2 by enhancing their expression and that interaction of LAR with the promoters is competitive between the two genes in a developmentally restricted manner. Sharing a regulatory region between duplicated genes could be a general way to facilitate the expression differentiation in duplicated visual opsins.

  12. Caudal duplication syndrome: imaging evaluation of a rare entity in an adult patient

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    Tianshen Hu, BS

    2016-03-01

    Full Text Available Several theories have been put forth to explain the complex yet symmetrical malformations and the myriad of clinical presentations of caudal duplication syndrome. Hereby, reported case is a 28-year-old female, gravida 2 para 2, with congenital caudal malformation who has undergone partial reconstructive surgeries in infancy to connect her 2 colons. She presented with recurrent left lower abdominal pain associated with nausea, vomiting, and subsequent feculent anal discharge. Imaging reveals duplication of the urinary bladder, urethra, and colon with with cloacal malformations and fistulae from the left-sided cloaca, uterus didelphys with separate cervices and vaginal canals, right-sided aortic arch and descending thoracic aorta, and dysraphic midline sacrococcygeal defect. Hydronephrosis of the left kidney with left hydroureter and inflammation of one of the colons were suspected to be the cause of the patient’s acute complaints. She improved symptomatically over the course of her hospitalization stay with conservative treatments. The management for this syndrome is individualized and may include surgical intervention to fuse or excise the duplicated organs.

  13. Duplication and loss of chromosome 21 in two children with Down syndrome and acute leukemia

    Energy Technology Data Exchange (ETDEWEB)

    Rogan, P.K.; Close, P.; Gannutz, L. [Pennsylvania State Univ., Hershey, PA (United States)] [and others

    1995-11-06

    Acute leukemia in Down syndrome (DS) is often associated with additional changes in the number of structure of chromosome 21. We present two DS patients whose leukemic karyotypes were associated with changes in chromosome 21 ploidy. Patient 1 developed acute lymphocytic leukemia (type L1); disomy for chromosome 21 was evident in all blast cells examined. Loss of the paternal chromosome in the leukemic clone produced maternal uniparental disomy with isodisomy over a 25-cM interval. The second patient had acute monoblastic leukemia (type M5) with tetrasomy 21 in all leukemic cells. DNA polymorphism analysis showed duplicate paternal chromosomes in the constitutional genotype. The maternal chromosome was subsequently duplicated in the leukemic clone. The distinct inheritance patterns of chromosome 21 in the blast cells of these patients would appear to indicate that leukemogenesis occurred by different genetic mechanisms in each individual. 57 refs., 2 figs., 3 tabs.

  14. 7q11.23 Duplication syndrome: Physical characteristics and natural history.

    Science.gov (United States)

    Morris, Colleen A; Mervis, Carolyn B; Paciorkowski, Alex P; Abdul-Rahman, Omar; Dugan, Sarah L; Rope, Alan F; Bader, Patricia; Hendon, Laura G; Velleman, Shelley L; Klein-Tasman, Bonita P; Osborne, Lucy R

    2015-12-01

    In order to describe the physical characteristics, medical complications, and natural history of classic 7q11.23 duplication syndrome [hereafter Dup7 (MIM 609757)], reciprocal duplication of the region deleted in Williams syndrome [hereafter WS (MIM 194050)], we systematically evaluated 53 individuals aged 1.25-21.25 years and 11 affected adult relatives identified in cascade testing. In this series, 27% of probands with Dup7 had an affected parent. Seven of the 26 de novo duplications that were examined for inversions were inverted; in all seven cases one of the parents had the common inversion polymorphism of the WS region. We documented the craniofacial features of Dup7: brachycephaly, broad forehead, straight eyebrows, broad nasal tip, low insertion of the columella, short philtrum, thin upper lip, minor ear anomalies, and facial asymmetry. Approximately 30% of newborns and 50% of older children and adults had macrocephaly. Abnormalities were noted on neurological examination in 88.7% of children, while 81.6% of MRI studies showed structural abnormalities such as decreased cerebral white matter volume, cerebellar vermis hypoplasia, and ventriculomegaly. Signs of cerebellar dysfunction were found in 62.3%, hypotonia in 58.5%, Developmental Coordination Disorder in 74.2%, and Speech Sound Disorder in 82.6%. Behavior problems included anxiety disorders, ADHD, and oppositional disorders. Medical problems included seizures, 19%; growth hormone deficiency, 9.4%; patent ductus arteriosus, 15%; aortic dilation, 46.2%; chronic constipation, 66%; and structural renal anomalies, 18%. We compare these results to the WS phenotype and offer initial recommendations for medical evaluation and surveillance of individuals who have Dup7.

  15. Identification of coding exon 3 duplication in the BMPR1A gene in a patient with juvenile polyposis syndrome.

    Science.gov (United States)

    Yamaguchi, Junya; Nagayama, Satoshi; Chino, Akiko; Sakata, Ai; Yamamoto, Noriko; Sato, Yuri; Ashihara, Yuumi; Kita, Mizuho; Nomura, Sachio; Ishikawa, Yuichi; Igarashi, Masahiro; Ueno, Masashi; Arai, Masami

    2014-10-01

    Juvenile polyposis syndrome is an autosomal dominant inherited disorder characterized by multiple juvenile polyps arising in the gastrointestinal tract and an increased risk of gastrointestinal cancers, specifically colon cancer. BMPR1A and SMAD4 germline mutations have been found in patients with juvenile polyposis syndrome. We identified a BMPR1A mutation, which involves a duplication of coding exon 3 (c.230+452_333+441dup1995), on multiple ligation dependent probe amplification in a patient with juvenile polyposis syndrome. The mutation causes a frameshift, producing a truncated protein (p.D112NfsX2). Therefore, the mutation is believed to be pathogenic. We also identified a duplication breakpoint in which Alu sequences are located. These results suggest that the duplication event resulted from recombination between Alu sequences. To our knowledge, partial duplication in the BMPR1A gene has not been reported previously. This is the first case report to document coding exon 3 duplication in the BMPR1A gene in a patient with juvenile polyposis syndrome.

  16. Differential transcriptional modulation of duplicated fatty acid-binding protein genes by dietary fatty acids in zebrafish (Danio rerio: evidence for subfunctionalization or neofunctionalization of duplicated genes

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    Denovan-Wright Eileen M

    2009-09-01

    , induction of the steady-state level of fabp mRNAs by dietary FAs correlated with induced levels of hnRNA for a given fabp gene. As such, up-regulation of the steady-state level of fabp mRNAs by FAs occurred at the level of initiation of transcription. None of the sister duplicates of these fabp genes exhibited an increase in their steady-state transcript levels in a specific tissue following feeding zebrafish any of the four experimental diets. Conclusion Differential induction of only one of the sister pair of duplicated fabp genes by FAs provides evidence to support the DDC model for retention of duplicated genes in the zebrafish genome by either subfunctionalization or neofunctionalization.

  17. Prader-Willi-like syndrome in a patient with an Xq23q25 duplication.

    Science.gov (United States)

    Monaghan, K G; Van Dyke, D L; Feldman, G L

    1998-11-16

    We report on a 24-year old woman with an Xq duplication and findings suggestive of Prader-Willi syndrome (PWS). Her birth weight was at the 3rd centile and her birth length was less than the 3rd centile. She was hypotonic and had a weak cry as an infant. There were no feeding difficulties, although her mother reports that as an infant, she was "small for her age." Excessive weight gain began between 3 and 4 years. The patient's development was delayed and she received special education. She has a history of hiding food. She has a sleep disturbance disorder and inappropriate social behavior. At the age of 24 years her height was below the 5th centile and weight >95th centile. She has physical findings typical of PWS, skin picking, and speech articulation defects. Cytogenetic analysis showed a 46,X,dup(X)(q23q25) karyotype. Fluorescent in situ hybridization (FISH) studies using a chromosome X painting probe demonstrated that the rearrangement was intrachromosomal. The X-chromosome fold scoring technique was used to determine the X inactivation pattern and indicated that some cells expressed the abnormal X chromosome. Results of FISH studies using the SNRPN probe localized to 15q11q13 and DNA studies using the PW71B and SNRPN probes were normal. The duplicated X chromosome, random X inactivation pattern, and the negative molecular studies for PWS indicate that the abnormal X chromosome is the basis of this patient's phenotype. This patient emphasizes the importance of obtaining a karyotype even when a syndrome diagnosable by molecular methods is strongly suspected.

  18. A 380-kb Duplication in 7p22.3 Encompassing the LFNG Gene in a Boy with Asperger Syndrome

    NARCIS (Netherlands)

    Vulto-van Silfhout, A.T.; Brouwer, A.F. de; Leeuw, N. de; Obihara, C.C.; Brunner, H.G.; Vries, B.B. de

    2012-01-01

    De novo genomic aberrations are considered an important cause of autism spectrum disorders. We describe a de novo 380-kb gain in band p22.3 of chromosome 7 in a patient with Asperger syndrome. This duplicated region contains 9 genes including the LNFG gene that is an important regulator of NOTCH

  19. A 380-kb Duplication in 7p22.3 Encompassing the LFNG Gene in a Boy with Asperger Syndrome

    NARCIS (Netherlands)

    Vulto-van Silfhout, A.T.; Brouwer, A.F. de; Leeuw, N. de; Obihara, C.C.; Brunner, H.G.; Vries, B.B. de

    2012-01-01

    De novo genomic aberrations are considered an important cause of autism spectrum disorders. We describe a de novo 380-kb gain in band p22.3 of chromosome 7 in a patient with Asperger syndrome. This duplicated region contains 9 genes including the LNFG gene that is an important regulator of NOTCH sig

  20. A 380-kb Duplication in 7p22.3 Encompassing the LFNG Gene in a Boy with Asperger Syndrome

    NARCIS (Netherlands)

    Vulto-van Silfhout, A.T.; Brouwer, A.F. de; Leeuw, N. de; Obihara, C.C.; Brunner, H.G.; Vries, B.B. de

    2012-01-01

    De novo genomic aberrations are considered an important cause of autism spectrum disorders. We describe a de novo 380-kb gain in band p22.3 of chromosome 7 in a patient with Asperger syndrome. This duplicated region contains 9 genes including the LNFG gene that is an important regulator of NOTCH sig

  1. Two patients with duplication of 17p11.2: The reciprocal of the Smith-Magenis syndrome deletion?

    Energy Technology Data Exchange (ETDEWEB)

    Brown, A. [Greenwood Genetic Center, SC (United States)]|[Clemson Univ., SC (United States); Phelan, M.C.; Rogers, R.C. [Greenwood Genetic Center, SC (United States)] [and others

    1996-05-17

    J.M. and H.G. are two unrelated male patients with developmental delay. Cytogenetic analysis detected a duplication of 17p11.2 in both patients. The extent of the duplicated region was determined using single copy DNA probes: cen-D17S58-D17S29-D17S258-D17S71-D17S445-D17S122-tel. Four of the six markers, D17S29, D17S258, D17S71, and D17S445, were duplicated by dosage analysis. Fluorescent in situ hybridization (FISH) analysis of H.G., using cosmids for locus D17S29, confirmed the duplication in 17p11.2. Because the deletion that causes the Smith-Magenis syndrome involves the same region of 17p11.2 as the duplication in these patients, the mechanism may be similar to that proposed for the reciprocal deletion/ duplication event observed in Hereditary Neuropathy with Liability to Pressure Palsies (HNPP) and Charcot-Marie-Tooth Type 1A disease (CMT1A). 30 refs., 3 figs., 1 tab.

  2. Retention of duplicated long-wavelength opsins in mosquito lineages by positive selection and differential expression.

    Science.gov (United States)

    Giraldo-Calderón, Gloria I; Zanis, Michael J; Hill, Catherine A

    2017-03-21

    Opsins are light sensitive receptors associated with visual processes. Insects typically possess opsins that are stimulated by ultraviolet, short and long wavelength (LW) radiation. Six putative LW-sensitive opsins predicted in the yellow fever mosquito, Aedes aegypti and malaria mosquito, Anopheles gambiae, and eight in the southern house mosquito, Culex quinquefasciatus, suggest gene expansion in the Family Culicidae (mosquitoes) relative to other insects. Here we report the first detailed molecular and evolutionary analyses of LW opsins in three mosquito vectors, with a goal to understanding the molecular basis of opsin-mediated visual processes that could be exploited for mosquito control. Time of divergence estimates suggest that the mosquito LW opsins originated from 18 or 19 duplication events between 166.9/197.5 to 1.07/0.94 million years ago (MY) and that these likely occurred following the predicted divergence of the lineages Anophelinae and Culicinae 145-226 MY. Fitmodel analyses identified nine amino acid residues in the LW opsins that may be under positive selection. Of these, eight amino acids occur in the N and C termini and are shared among all three species, and one residue in TMIII was unique to culicine species. Alignment of 5' non-coding regions revealed potential Conserved Non-coding Sequences (CNS) and transcription factor binding sites (TFBS) in seven pairs of LW opsin paralogs. Our analyses suggest opsin gene duplication and residues possibly associated with spectral tuning of LW-sensitive photoreceptors. We explore two mechanisms - positive selection and differential expression mediated by regulatory units in CNS - that may have contributed to the retention of LW opsin genes in Culicinae and Anophelinae. We discuss the evolution of mosquito LW opsins in the context of major Earth events and possible adaptation of mosquitoes to LW-dominated photo environments, and implications for mosquito control strategies based on disrupting vision

  3. Accumulated quiescent neural stem cells in adult hippocampus of the mouse model for the MECP2 duplication syndrome

    Science.gov (United States)

    Chen, Zhifang; Li, Xiao; Zhou, Jingjing; Yuan, Bo; Yu, Bin; Tong, Dali; Cheng, Cheng; Shao, Yinqi; Xia, Shengnan; Zhang, Ran; Lyu, Jingwen; Yu, Xiuya; Dong, Chen; Zhou, Wen-Hao; Qiu, Zilong

    2017-01-01

    Duplications of Methyl CpG binding protein 2 (MECP2) -containing segments lead to the MECP2 duplication syndrome, in which severe autistic symptoms were identified. Whether adult neurogenesis may play a role in pathogenesis of autism and the role of MECP2 on state determination of adult neural stem cells (NSCs) remain largely unclear. Using a MECP2 transgenic (TG) mouse model for the MECP2 duplication syndrome, we found that adult hippocampal quiescent NSCs were significantly accumulated in TG mice comparing to wild type (WT) mice, the neural progenitor cells (NPCs) were reduced and the neuroblasts were increased in adult hippocampi of MECP2 TG mice. Interestingly, we found that parvalbumin (PV) positive interneurons were significantly decreased in MECP2 TG mice, which were critical for determining fates of adult hippocampal NSCs between the quiescence and activation. In summary, we found that MeCP2 plays a critical role in regulating fate determination of adult NSCs. These evidences further suggest that abnormal development of NSCs may play a role in the pathogenesis of the MECP2 duplication syndrome. PMID:28139724

  4. Reciprocal deletion and duplication of 17p11.2-11.2: Korean patients with Smith-Magenis syndrome and Potocki-Lupski syndrome.

    Science.gov (United States)

    Lee, Cha Gon; Park, Sang-Jin; Yun, Jun-No; Yim, Shin-Young; Sohn, Young Bae

    2012-12-01

    Deletion and duplication of the -3.7-Mb region in 17p11.2 result in two reciprocal syndrome, Smith-Magenis syndrome and Potocki-Lupski syndrome. Smith-Magenis syndrome is a well-known developmental disorder. Potocki-Lupski syndrome has recently been recognized as a microduplication syndrome that is a reciprocal disease of Smith-Magenis syndrome. In this paper, we report on the clinical and cytogenetic features of two Korean patients with Smith-Magenis syndrome and Potocki-Lupski syndrome. Patient 1 (Smith-Magenis syndrome) was a 2.9-yr-old boy who showed mild dysmorphic features, aggressive behavioral problems, and developmental delay. Patient 2 (Potocki-Lupski syndrome), a 17-yr-old boy, had only intellectual disabilities and language developmental delay. We used array comparative genomic hybridization (array CGH) and found a 2.6 Mb-sized deletion and a reciprocal 2.1 Mb-sized duplication involving the 17p11.2. These regions overlapped in a 2.1 Mb size containing 11 common genes, including RAI1 and SREBF.

  5. Adaptations to endosymbiosis in a cnidarian-dinoflagellate association: differential gene expression and specific gene duplications.

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    Philippe Ganot

    2011-07-01

    Full Text Available Trophic endosymbiosis between anthozoans and photosynthetic dinoflagellates forms the key foundation of reef ecosystems. Dysfunction and collapse of symbiosis lead to bleaching (symbiont expulsion, which is responsible for the severe worldwide decline of coral reefs. Molecular signals are central to the stability of this partnership and are therefore closely related to coral health. To decipher inter-partner signaling, we developed genomic resources (cDNA library and microarrays from the symbiotic sea anemone Anemonia viridis. Here we describe differential expression between symbiotic (also called zooxanthellate anemones or aposymbiotic (also called bleached A. viridis specimens, using microarray hybridizations and qPCR experiments. We mapped, for the first time, transcript abundance separately in the epidermal cell layer and the gastrodermal cells that host photosynthetic symbionts. Transcriptomic profiles showed large inter-individual variability, indicating that aposymbiosis could be induced by different pathways. We defined a restricted subset of 39 common genes that are characteristic of the symbiotic or aposymbiotic states. We demonstrated that transcription of many genes belonging to this set is specifically enhanced in the symbiotic cells (gastroderm. A model is proposed where the aposymbiotic and therefore heterotrophic state triggers vesicular trafficking, whereas the symbiotic and therefore autotrophic state favors metabolic exchanges between host and symbiont. Several genetic pathways were investigated in more detail: i a key vitamin K-dependant process involved in the dinoflagellate-cnidarian recognition; ii two cnidarian tissue-specific carbonic anhydrases involved in the carbon transfer from the environment to the intracellular symbionts; iii host collagen synthesis, mostly supported by the symbiotic tissue. Further, we identified specific gene duplications and showed that the cnidarian-specific isoform was also up-regulated both

  6. A deletion and a duplication in distal 22q11.2 deletion syndrome region. Clinical implications and review

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    Fernández Luis

    2009-06-01

    Full Text Available Abstract Background Individuals affected with DiGeorge and Velocardiofacial syndromes present with both phenotypic diversity and variable expressivity. The most frequent clinical features include conotruncal congenital heart defects, velopharyngeal insufficiency, hypocalcemia and a characteristic craniofacial dysmorphism. The etiology in most patients is a 3 Mb recurrent deletion in region 22q11.2. However, cases of infrequent deletions and duplications with different sizes and locations have also been reported, generally with a milder, slightly different phenotype for duplications but with no clear genotype-phenotype correlation to date. Methods We present a 7 month-old male patient with surgically corrected ASD and multiple VSDs, and dysmorphic facial features not clearly suggestive of 22q11.2 deletion syndrome, and a newborn male infant with cleft lip and palate and upslanting palpebral fissures. Karyotype, FISH, MLPA, microsatellite markers segregation studies and SNP genotyping by array-CGH were performed in both patients and parents. Results Karyotype and FISH with probe N25 were normal for both patients. MLPA analysis detected a partial de novo 1.1 Mb deletion in one patient and a novel partial familial 0.4 Mb duplication in the other. Both of these alterations were located at a distal position within the commonly deleted region in 22q11.2. These rearrangements were confirmed and accurately characterized by microsatellite marker segregation studies and SNP array genotyping. Conclusion The phenotypic diversity found for deletions and duplications supports a lack of genotype-phenotype correlation in the vicinity of the LCRC-LCRD interval of the 22q11.2 chromosomal region, whereas the high presence of duplications in normal individuals supports their role as polymorphisms. We suggest that any hypothetical correlation between the clinical phenotype and the size and location of these alterations may be masked by other genetic and/or epigenetic

  7. Duplication and loss of chromosome 21 in two children with Down Syndrome and acute leukemia

    Energy Technology Data Exchange (ETDEWEB)

    Rogan, P.K.; Close, P.; Seip, J.R. [Pennsylvania State Univ. College of Medicine, Hershey, PA (United States)] [and others

    1994-09-01

    Acute leukemia in patients with Trisomy 21 (Down Syndrome; DS) may often result in additional karyotypic changes in the number or structure of chromosome 21. We present two DS patients whose immunoblast karyotypes were associated with changes in chromosome 21 ploidy. Patient L.E. developed acute lymphocytic leukemia concomitant with the loss of a single copy of chromosome 21. Trisomy 21 in this individual was due to maternal meiosis I nondisjunction. A recombination event resulted in reduction of maternal alleles to homozygosity distal to D21S167. Loss of the paternal chromosomes in the leukemia clone produced uniparental maternal disomy with isodisomy over a 25cM interval. This could, in theory, permit the unopposed expression of one or more homozygous recessive maternal tumor-associated genes, thus providing an explanation for leukemogenesis in this patient. Patient E.H. was diagnosed with acute monoblastic leukemia and consistently displayed tetrasomy 21 in the blast cell population. The DS karyotype probably arose from a mitotic error in which the paternal chromosome was duplicated. DNA polymorphism analysis indicated that the additional chromosome in the leukemia clone was of maternal origin. The presence of equal numbers of maternal and paternal chromosomes in the tetraploid blast clone would not appear to be consistent with the expression of a mutant tumor suppressor gene in this patient. Although tetrasomy 21 could be a non-specific karyotypic abnormality unrelated to leukemogenesis, it is possible that monoblastic leukemia may be a consequence of increased expression of one or more genes on this chromosome.

  8. Duplication 12p and Pallister-Killian syndrome: a case report and review of the literature toward defining a Pallister-Killian syndrome minimal critical region.

    Science.gov (United States)

    Izumi, Kosuke; Conlin, Laura K; Berrodin, Donna; Fincher, Christopher; Wilkens, Alisha; Haldeman-Englert, Chad; Saitta, Sulagna C; Zackai, Elaine H; Spinner, Nancy B; Krantz, Ian D

    2012-12-01

    Pallister-Killian syndrome (PKS) is a multisystem sporadic genetic condition characterized by facial anomalies, variable developmental delay and intellectual impairment, hypotonia, hearing loss, seizures, pigmentary skin differences, temporal alopecia, diaphragmatic hernia, congenital heart defects, and other systemic abnormalities. PKS is typically caused by the presence of a supernumerary isochromosome composed of the short arms of chromosome 12 resulting in tetrasomy 12p, which is often present in a tissue limited mosaic state. The PKS phenotype has also often been observed in individuals with complete or partial duplications of 12p (trisomy 12p rather than tetrasomy 12p) as the result of an interstitial duplication or unbalanced translocation. We have identified a proposita with PKS who has two small de novo interstitial duplications of 12p which, along with a review of previously reported cases, has allowed us to define a minimum critical region for PKS.

  9. Duplication of the pituitary gland in a newborn with median cleft face syndrome and nasal teratoma

    Energy Technology Data Exchange (ETDEWEB)

    Hamon-Kerautret, M.; Ares, G.S.; Demondion, X.; Pruvo, J.P. [Service de Neuroradiologie, Hopital Roger Salengro, CHRU Lille (France); Rouland, V. [Service de Neonatologie, Hopital Roger Salengro, CHRU Lille (France); Francke, J.P. [Departement d`Anatomie, Faculte de Medicine, Universite de Lille (France)

    1998-05-01

    A newborn suffered immediate neonatal respiratory distress because of an obstructive, soft-tissue nasal mass. Clinical examination revealed a cleft palate with a protruding polypoid mass. CT and MRI showed a heterogeneous nasopharyngeal mass and associated intracranial abnormalities - duplication of the hypophysis and hypoplasia of the corpus callosum. Duplication of the hypophysis is a very rare malformation, only 13 cases having been previously described. The suggested pathogenesis is duplication of the prechordal plate and anterior end of the notochord during early embryological development. (orig.) With 2 figs., 3 refs.

  10. Duodenal Duplication Cyst: A Rare Differential Diagnosis in a Neonate with Bilious Vomiting

    Science.gov (United States)

    Župančić, Božidar; Gliha, Andro; Fuenzalida, Jose Varas; Višnjić, Stjepan

    2015-01-01

    Bilious vomiting is a relevant sign in neonates that requires immediate evaluation and diagnosis. A duplication of the intestinal tract is a possible cause of obstruction if located distally to the major duodenal papilla of Vater and most of them involve the jejunum, stomach, or colon. Duodenal duplications are very rare and can have an endoscopic or surgical treatment after diagnosis. We present a case of a 16-day-old term newborn that consulted because of bilious vomiting and after evaluation with imaging and upper endoscopy, a duodenal duplication cyst was found at the level of the third portion causing compression of the intestinal lumen that required surgical resolution with duodenocystostomy. PMID:26788454

  11. Partial duplication of 18q including a distal critical region for Edwards Syndrome in a patient with normal phenotype and oligoasthenospermia: case report.

    Science.gov (United States)

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

    2011-01-01

    Several authors have attempted to construct a phenotype map for duplications of different portions of chromosome 18 to identify a possible critical region (CR) for Edwards Syndrome. Partial duplications of 18q have been reported in the literature involving the distal CR in patients with some clinical features of Edwards Syndrome. Here, we describe a phenotypically normal male with a large duplication on chromosome 18 that involves the proposed distal CR. The lack of clinical features is remarkable, except for pathological semen analysis, which suggests that terminal 17.4 Mb of 18q do not contain the Edwards Syndrome CR. Alternatively, unknown modifier factors or undetected somatic mosaicism might cause incomplete penetrance of this duplication.

  12. An Xq22.3 duplication detected by comparative genomic hybridization microarray (Array-CGH) defines a new locus (FGS5) for FG syndrome.

    Science.gov (United States)

    Jehee, Fernanda Sarquis; Rosenberg, Carla; Krepischi-Santos, Ana Cristina; Kok, Fernando; Knijnenburg, Jeroen; Froyen, Guy; Vianna-Morgante, Angela M; Opitz, John M; Passos-Bueno, Maria Rita

    2005-12-15

    FG syndrome is an X-linked multiple congenital anomalies (MCA) syndrome. It has been mapped to four distinct loci FGS1-4, through linkage analysis (Xq13, Xp22.3, and Xp11.4-p11.3) and based on the breakpoints of an X chromosome inversion (Xq11:Xq28), but so far no gene has been identified. We describe a boy with FG syndrome who has an inherited duplication at band Xq22.3 detected by comparative genomic hybridization microarray (Array-CGH). These duplication maps outside all four loci described so far for FG syndrome, representing therefore a new locus, which we propose to be called FGS5. MID2, a gene closely related to MID1, which is known to be mutated in Opitz G/BBB syndrome, maps within the duplicated segment of our patient. Since FG and Opitz G/BBB syndromes share many manifestations we considered MID2 a candidate gene for FG syndrome. We also discuss the involvement of other potential genes within the duplicated segment and its relationship with clinical symptoms of our patient, as well as the laboratory abnormalities found in his mother, a carrier of the duplication.

  13. Posterior Nutcracker Syndrome with Left Renal Vein Duplication: A Rare Cause of Haematuria in a 12-Year-Old Boy

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    J. Preza Fernandes

    2012-01-01

    Full Text Available The nutcracker syndrome (NCS is a rare cause of haematuria. It embraces an extended nonpathognomonic spectrum of symptoms that imply a difficult diagnosis. Ultimately it may be associated with substantial morbidity and even life-threatening events. We report a rare cause if a 12-year-old boy who presented with a history of frequent intermittent episodes of painless constant haematuria. The cystoscopy showed a bloody urine ejaculate from the left ureter meatus. The Doppler ultrasonography showed turbulent pattern of venous blood flow of the posterior renal vein branch behind the aorta. The abdominopelvic computer tomography (apCT revealed left renal vein (LRV duplication with a dilated retroaortic branch, entrapped between the aorta and the vertebral column, promoting the renal nutcracker syndrome. The patient was initially hospitalized and managed with oral iron supplements and continuous saline bladder irrigation, not requiring additional treatment. The child is currently asymptomatic, with haemoglobin value returning to normal and therefore proposed to conservative management with close followup. The authors present a case report of episodic haematuria caused by a rare entity—posterior nutcracker syndrome with renal vein duplication.

  14. Transducin duplicates in the zebrafish retina and pineal complex: differential specialisation after the teleost tetraploidisation.

    Directory of Open Access Journals (Sweden)

    David Lagman

    Full Text Available Gene duplications provide raw materials that can be selected for functional adaptations by evolutionary mechanisms. We describe here the results of 350 million years of evolution of three functionally related gene families: the alpha, beta and gamma subunits of transducins, the G protein involved in vision. Early vertebrate tetraploidisations resulted in separate transducin heterotrimers: gnat1/gnb1/gngt1 for rods, and gnat2/gnb3/gngt2 for cones. The teleost-specific tetraploidisation generated additional duplicates for gnb1, gnb3 and gngt2. We report here that the duplicates have undergone several types of subfunctionalisation or neofunctionalisation in the zebrafish. We have found that gnb1a and gnb1b are co-expressed at different levels in rods; gnb3a and gnb3b have undergone compartmentalisation restricting gnb3b to the dorsal and medial retina, however, gnb3a expression was detected only at very low levels in both larvae and adult retina; gngt2b expression is restricted to the dorsal and medial retina, whereas gngt2a is expressed ventrally. This dorsoventral distinction could be an adaptation to protect the lower part of the retina from intense light damage. The ontogenetic analysis shows earlier onset of expression in the pineal complex than in the retina, in accordance with its earlier maturation. Additionally, gnb1a but not gnb1b is expressed in the pineal complex, and gnb3b and gngt2b are transiently expressed in the pineal during ontogeny, thus showing partial temporal subfunctionalisation. These retina-pineal distinctions presumably reflect their distinct functional roles in vision and circadian rhythmicity. In summary, this study describes several functional differences between transducin gene duplicates resulting from the teleost-specific tetraploidisation.

  15. Transducin duplicates in the zebrafish retina and pineal complex: differential specialisation after the teleost tetraploidisation.

    Science.gov (United States)

    Lagman, David; Callado-Pérez, Amalia; Franzén, Ilkin E; Larhammar, Dan; Abalo, Xesús M

    2015-01-01

    Gene duplications provide raw materials that can be selected for functional adaptations by evolutionary mechanisms. We describe here the results of 350 million years of evolution of three functionally related gene families: the alpha, beta and gamma subunits of transducins, the G protein involved in vision. Early vertebrate tetraploidisations resulted in separate transducin heterotrimers: gnat1/gnb1/gngt1 for rods, and gnat2/gnb3/gngt2 for cones. The teleost-specific tetraploidisation generated additional duplicates for gnb1, gnb3 and gngt2. We report here that the duplicates have undergone several types of subfunctionalisation or neofunctionalisation in the zebrafish. We have found that gnb1a and gnb1b are co-expressed at different levels in rods; gnb3a and gnb3b have undergone compartmentalisation restricting gnb3b to the dorsal and medial retina, however, gnb3a expression was detected only at very low levels in both larvae and adult retina; gngt2b expression is restricted to the dorsal and medial retina, whereas gngt2a is expressed ventrally. This dorsoventral distinction could be an adaptation to protect the lower part of the retina from intense light damage. The ontogenetic analysis shows earlier onset of expression in the pineal complex than in the retina, in accordance with its earlier maturation. Additionally, gnb1a but not gnb1b is expressed in the pineal complex, and gnb3b and gngt2b are transiently expressed in the pineal during ontogeny, thus showing partial temporal subfunctionalisation. These retina-pineal distinctions presumably reflect their distinct functional roles in vision and circadian rhythmicity. In summary, this study describes several functional differences between transducin gene duplicates resulting from the teleost-specific tetraploidisation.

  16. Increased RPA1 gene dosage affects genomic stability potentially contributing to 17p13.3 duplication syndrome.

    Directory of Open Access Journals (Sweden)

    Emily Outwin

    2011-08-01

    Full Text Available A novel microduplication syndrome involving various-sized contiguous duplications in 17p13.3 has recently been described, suggesting that increased copy number of genes in 17p13.3, particularly PAFAH1B1, is associated with clinical features including facial dysmorphism, developmental delay, and autism spectrum disorder. We have previously shown that patient-derived cell lines from individuals with haploinsufficiency of RPA1, a gene within 17p13.3, exhibit an impaired ATR-dependent DNA damage response (DDR. Here, we show that cell lines from patients with duplications specifically incorporating RPA1 exhibit a different although characteristic spectrum of DDR defects including abnormal S phase distribution, attenuated DNA double strand break (DSB-induced RAD51 chromatin retention, elevated genomic instability, and increased sensitivity to DNA damaging agents. Using controlled conditional over-expression of RPA1 in a human model cell system, we also see attenuated DSB-induced RAD51 chromatin retention. Furthermore, we find that transient over-expression of RPA1 can impact on homologous recombination (HR pathways following DSB formation, favouring engagement in aberrant forms of recombination and repair. Our data identifies unanticipated defects in the DDR associated with duplications in 17p13.3 in humans involving modest RPA1 over-expression.

  17. A case of duplication of 13q32-->qter and deletion of 18p11.32-->pter with mild phenotype: Patau syndrome and duplications of 13q revisited.

    Science.gov (United States)

    Helali, N; Iafolla, A K; Kahler, S G; Qumsiyeh, M B

    1996-07-01

    A mild clinical phenotype is described in a patient with duplication of 13q32-->qter and a small deletion of 18p11.32-->pter. The 8 year old white male presented with psychomotor retardation, tethered cord, soft, fleshy ears, and normal facial features except for thin lips. The karyotype was found to be 46, XY, der(18)t(13;18) (q32;p11.32) pat confirmed by fluorescence in situ hybridisation (FISH). A review of earlier studies showed that features of trisomy 13 are found in cases of duplication of bands 13q14 to qter. None of the cardinal features of trisomy 13 was seen in this patient. The absence of polydactyly, hernias, urogenital abnormalities, and haemangiomas contrast this condition with both trisomy 13 and duplication of 13q14-22-->qter. Possible explanations for lack of Patau syndrome in this patient could include restriction of the critical region for Patau syndrome to duplication 13q14-->13q32 with variable expression, gene interactions, or interchromosomal effects.

  18. Diagnosing Smith-Magenis syndrome and duplication 17p11.2 syndrome by RAI1 gene copy number variation using quantitative real-time PCR.

    Science.gov (United States)

    Truong, Hoa T; Solaymani-Kohal, Sara; Baker, Kevin R; Girirajan, Santhosh; Williams, Stephen R; Vlangos, Christopher N; Smith, Ann C M; Bunyan, David J; Roffey, Paul E; Blanchard, Christopher L; Elsea, Sarah H

    2008-03-01

    Smith-Magenis syndrome (SMS) and duplication 17p11.2 (dup17p11.2) syndrome are multiple congenital anomalies/mental retardation disorders resulting from either a deletion or duplication of the 17p11.2 region, respectively. The retinoic acid induced 1 (RAI1) gene is the causative gene for SMS and is included in the 17p11.2 region of dup17p11.2 syndrome. Currently SMS and dup17p11.2 syndrome are diagnosed using a combination of clinically recognized phenotypes and molecular cytogenetic analyses such as fluorescent in situ hybridization (FISH). However, these methods have proven to be highly expensive, time consuming, and dependent upon the low resolving capabilities of the assay. To address the need for improved diagnostic methods for SMS and dup17p11.2 syndrome, we designed a quantitative real-time PCR (Q-PCR) assay that measures RAI1 copy number using the comparative C(t) method, DeltaDeltaC(t). We tested our assay with samples blinded to their previous SMS or dup17p11.2 syndrome status. In all cases, we were able to determine RAI1 copy number status and render a correct diagnosis accordingly. We validated these results by both FISH and multiplex ligation-dependent probe amplification (MLPA). We conclude that Q-PCR is an accurate, reproducible, low-cost, and reliable assay that can be employed for routine use in SMS and dup17p11.2 diagnosis.

  19. The interstitial duplication 15q11.2-q13 syndrome includes autism, mild facial anomalies and a characteristic EEG signature.

    Science.gov (United States)

    Urraca, Nora; Cleary, Julie; Brewer, Victoria; Pivnick, Eniko K; McVicar, Kathryn; Thibert, Ronald L; Schanen, N Carolyn; Esmer, Carmen; Lamport, Dustin; Reiter, Lawrence T

    2013-08-01

    Chromosomal copy number variants (CNV) are the most common genetic lesion found in autism. Many autism-associated CNVs are duplications of chromosome 15q. Although most cases of interstitial (int) dup(15) that present clinically are de novo and maternally derived or inherited, both pathogenic and unaffected paternal duplications of 15q have been identified. We performed a phenotype/genotype analysis of individuals with interstitial 15q duplications to broaden our understanding of the 15q syndrome and investigate the contribution of 15q duplication to increased autism risk. All subjects were recruited solely on the basis of interstitial duplication 15q11.2-q13 status. Comparative array genome hybridization was used to determine the duplication size and boundaries while the methylation status of the maternally methylated small nuclear ribonucleoprotein polypeptide N gene was used to determine the parent of origin of the duplication. We determined the duplication size and parental origin for 14 int dup(15) subjects: 10 maternal and 4 paternal cases. The majority of int dup(15) cases recruited were maternal in origin, most likely due to our finding that maternal duplication was coincident with autism spectrum disorder. The size of the duplication did not correlate with the severity of the phenotype as established by Autism Diagnostic Observation Scale calibrated severity score. We identified phenotypes not comprehensively described before in this cohort including mild facial dysmorphism, sleep problems and an unusual electroencephalogram variant. Our results are consistent with the hypothesis that the maternally expressed ubiquitin protein ligase E3A gene is primarily responsible for the autism phenotype in int dup(15) since all maternal cases tested presented on the autism spectrum.

  20. The Haglund syndrome: initial and differential diagnosis.

    Science.gov (United States)

    Pavlov, H; Heneghan, M A; Hersh, A; Goldman, A B; Vigorita, V

    1982-07-01

    Haglund syndrome is a common cause of posterior heel pain, characterized clinically by a painful soft-tissue swelling at the level of the achilles tendon insertion. On the lateral heel radiograph the syndrome is characterized by a prominent calcaneal bursal projection, retrocalcaneal bursitis, thickening of the Achilles tendon, and a convexity of the superficial soft tissues at the level of the Achilles tendon insertion, a "pump-bump." An objective method for evaluating prominence of the bursal projection is measurement using the parallel pitch lines. This measurement helps to identify patients with Haglund syndrome and patients predisposed to develop this condition, and also to differentiate local causes of posterior heel pain from systemic causes. The parallel pitch line measurement was determined in 10 symptomatic feet and 78 control feet and the results were analyzed statistically.

  1. West syndrome associated with mosaic duplication of FOXG1 in a patient with maternal uniparental disomy of chromosome 14.

    Science.gov (United States)

    Tohyama, Jun; Yamamoto, Toshiyuki; Hosoki, Kana; Nagasaki, Keisuke; Akasaka, Noriyuki; Ohashi, Tsukasa; Kobayashi, Yu; Saitoh, Shinji

    2011-10-01

    FOXG1 on chromosome 14 has recently been suggested as a dosage-sensitive gene. Duplication of this gene could cause severe epilepsy and developmental delay, including infantile spasms. Here, we report on a female patient diagnosed with maternal uniparental disomy of chromosome 14 and West syndrome who carried a small supernumerary marker chromosome. A chromosomal analysis revealed mosaicism of 47,XX, + mar[8]/46,XX[18]. Spectral karyotyping multicolor fluorescence in situ hybridization analysis confirmed that the marker chromosome was derived from chromosome 14. A DNA methylation test at MEG3 in 14q32.2 and microsatellite analysis using polymorphic markers on chromosome 14 confirmed that the patient had maternal uniparental disomy 14 as well as a mosaic small marker chromosome of paternal origin containing the proximal long arm of chromosome 14. Microarray-based comparative genomic hybridization analysis conclusively defined the region of the gain of genomic copy numbers at 14q11.2-q12, encompassing FOXG1. The results of the analyses of our patient provide further evidence that not only duplication but also a small increase in the dosage of FOXG1 could cause infantile spasms.

  2. [17p13.3 duplication as a cause of psychomotor developmental delay in an infant - a further case of a new syndrome].

    Science.gov (United States)

    Przybylska-Kruszewska, Amanda; Kutkowska-Kaźmierczak, Anna; Krzywdzińska, Amanda; Smyk, Marta; Nowakowska, Beata; Gryglicka, Halina; Obersztyn, Ewa; Hozyasz, Kamil K

    2016-04-01

    17p13.3 duplication is a rare and heterogeneous genetic syndrome. Microdeletions of this region are responsible for the symptoms of Miller-Dieker syndrome. We present a case of 17p13.3 duplication consisting of about 730kb in a patient with psychomotor developmental delay, concerning eye-hand coordination, posture, locomotion and speech. Among other symptoms, we found excessive physical development in relation to age, hypotonia, dysmorphic facial features (high and prominent forehead, low-set ears, hypertelorism, short nose, small upturned nose, narrow lips and pointed chin) and discrete changes in the CNS - enhanced frontal horns of the lateral ventricles and quite narrow corpus callosum. These symptoms overlap with phenotype of previously described patients with 17p13.3 duplication. The aberration has been identified by array comparative genomic hybridization (aCGH) and confirmed by fluorescence in situ hybridization (FISH). This publication presents a detailed, comparative characteristic of clinical fetures expression in discussed patient with 17p13.3 duplication and patients previously described in medical literature. Further cases with different variants of 17p13.3 duplication may contribute to characterise the specific genotypephenotype correlation.

  3. Current differential diagnosis of hypereosinophilic syndrome

    Directory of Open Access Journals (Sweden)

    Dinić-Uzurov Vera

    2007-01-01

    syndrome is a subcategory of idiopathic eosinophilia. If the differential diagnosis of hypereosinophilia fails to resolve the etiology succesfully, the diagnosis of idiopathic HES remains.

  4. Three functionally diverged major White Spot Syndrome Virus structural proteins evolved by gene duplication

    NARCIS (Netherlands)

    Hulten, van M.C.W.; Goldbach, R.W.; Vlak, J.M.

    2000-01-01

    White spot syndrome virus (WSSV) is an invertebrate virus causing considerable mortality in penaeid shrimp. The oval-to-bacilliform shaped virions, isolated from infected Penaeus monodon, contain four major proteins: VP28, VP26, VP24 and VP19 (28, 26, 24 and 19 kDa, respectively). VP26 and VP24 are

  5. Reciprocal Effects on Neurocognitive and Metabolic Phenotypes in Mouse Models of 16p11.2 Deletion and Duplication Syndromes.

    Science.gov (United States)

    Arbogast, Thomas; Ouagazzal, Abdel-Mouttalib; Chevalier, Claire; Kopanitsa, Maksym; Afinowi, Nurudeen; Migliavacca, Eugenia; Cowling, Belinda S; Birling, Marie-Christine; Champy, Marie-France; Reymond, Alexandre; Herault, Yann

    2016-02-01

    The 16p11.2 600 kb BP4-BP5 deletion and duplication syndromes have been associated with developmental delay; autism spectrum disorders; and reciprocal effects on the body mass index, head circumference and brain volumes. Here, we explored these relationships using novel engineered mouse models carrying a deletion (Del/+) or a duplication (Dup/+) of the Sult1a1-Spn region homologous to the human 16p11.2 BP4-BP5 locus. On a C57BL/6N inbred genetic background, Del/+ mice exhibited reduced weight and impaired adipogenesis, hyperactivity, repetitive behaviors, and recognition memory deficits. In contrast, Dup/+ mice showed largely opposite phenotypes. On a F1 C57BL/6N × C3B hybrid genetic background, we also observed alterations in social interaction in the Del/+ and the Dup/+ animals, with other robust phenotypes affecting recognition memory and weight. To explore the dosage effect of the 16p11.2 genes on metabolism, Del/+ and Dup/+ models were challenged with high fat and high sugar diet, which revealed opposite energy imbalance. Transcriptomic analysis revealed that the majority of the genes located in the Sult1a1-Spn region were sensitive to dosage with a major effect on several pathways associated with neurocognitive and metabolic phenotypes. Whereas the behavioral consequence of the 16p11 region genetic dosage was similar in mice and humans with activity and memory alterations, the metabolic defects were opposite: adult Del/+ mice are lean in comparison to the human obese phenotype and the Dup/+ mice are overweight in comparison to the human underweight phenotype. Together, these data indicate that the dosage imbalance at the 16p11.2 locus perturbs the expression of modifiers outside the CNV that can modulate the penetrance, expressivity and direction of effects in both humans and mice.

  6. Reciprocal Effects on Neurocognitive and Metabolic Phenotypes in Mouse Models of 16p11.2 Deletion and Duplication Syndromes

    Science.gov (United States)

    Arbogast, Thomas; Ouagazzal, Abdel-Mouttalib; Chevalier, Claire; Kopanitsa, Maksym; Afinowi, Nurudeen; Migliavacca, Eugenia; Cowling, Belinda S.; Birling, Marie-Christine; Champy, Marie-France; Reymond, Alexandre; Herault, Yann

    2016-01-01

    The 16p11.2 600 kb BP4-BP5 deletion and duplication syndromes have been associated with developmental delay; autism spectrum disorders; and reciprocal effects on the body mass index, head circumference and brain volumes. Here, we explored these relationships using novel engineered mouse models carrying a deletion (Del/+) or a duplication (Dup/+) of the Sult1a1-Spn region homologous to the human 16p11.2 BP4-BP5 locus. On a C57BL/6N inbred genetic background, Del/+ mice exhibited reduced weight and impaired adipogenesis, hyperactivity, repetitive behaviors, and recognition memory deficits. In contrast, Dup/+ mice showed largely opposite phenotypes. On a F1 C57BL/6N × C3B hybrid genetic background, we also observed alterations in social interaction in the Del/+ and the Dup/+ animals, with other robust phenotypes affecting recognition memory and weight. To explore the dosage effect of the 16p11.2 genes on metabolism, Del/+ and Dup/+ models were challenged with high fat and high sugar diet, which revealed opposite energy imbalance. Transcriptomic analysis revealed that the majority of the genes located in the Sult1a1-Spn region were sensitive to dosage with a major effect on several pathways associated with neurocognitive and metabolic phenotypes. Whereas the behavioral consequence of the 16p11 region genetic dosage was similar in mice and humans with activity and memory alterations, the metabolic defects were opposite: adult Del/+ mice are lean in comparison to the human obese phenotype and the Dup/+ mice are overweight in comparison to the human underweight phenotype. Together, these data indicate that the dosage imbalance at the 16p11.2 locus perturbs the expression of modifiers outside the CNV that can modulate the penetrance, expressivity and direction of effects in both humans and mice. PMID:26872257

  7. Reciprocal Effects on Neurocognitive and Metabolic Phenotypes in Mouse Models of 16p11.2 Deletion and Duplication Syndromes.

    Directory of Open Access Journals (Sweden)

    Thomas Arbogast

    2016-02-01

    Full Text Available The 16p11.2 600 kb BP4-BP5 deletion and duplication syndromes have been associated with developmental delay; autism spectrum disorders; and reciprocal effects on the body mass index, head circumference and brain volumes. Here, we explored these relationships using novel engineered mouse models carrying a deletion (Del/+ or a duplication (Dup/+ of the Sult1a1-Spn region homologous to the human 16p11.2 BP4-BP5 locus. On a C57BL/6N inbred genetic background, Del/+ mice exhibited reduced weight and impaired adipogenesis, hyperactivity, repetitive behaviors, and recognition memory deficits. In contrast, Dup/+ mice showed largely opposite phenotypes. On a F1 C57BL/6N × C3B hybrid genetic background, we also observed alterations in social interaction in the Del/+ and the Dup/+ animals, with other robust phenotypes affecting recognition memory and weight. To explore the dosage effect of the 16p11.2 genes on metabolism, Del/+ and Dup/+ models were challenged with high fat and high sugar diet, which revealed opposite energy imbalance. Transcriptomic analysis revealed that the majority of the genes located in the Sult1a1-Spn region were sensitive to dosage with a major effect on several pathways associated with neurocognitive and metabolic phenotypes. Whereas the behavioral consequence of the 16p11 region genetic dosage was similar in mice and humans with activity and memory alterations, the metabolic defects were opposite: adult Del/+ mice are lean in comparison to the human obese phenotype and the Dup/+ mice are overweight in comparison to the human underweight phenotype. Together, these data indicate that the dosage imbalance at the 16p11.2 locus perturbs the expression of modifiers outside the CNV that can modulate the penetrance, expressivity and direction of effects in both humans and mice.

  8. 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......, 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...

  9. BAC-FISH refutes report of an 8p22–8p23.1 inversion or duplication in 8 patients with Kabuki syndrome

    Directory of Open Access Journals (Sweden)

    Hobart Holly H

    2006-05-01

    Full Text Available Abstract Background Kabuki syndrome is a multiple congenital anomaly/mental retardation syndrome. The syndrome is characterized by varying degrees of mental retardation, postnatal growth retardation, distinct facial characteristics resembling the Kabuki actor's make-up, cleft or high-arched palate, brachydactyly, scoliosis, and persistence of finger pads. The multiple organ involvement suggests that this is a contiguous gene syndrome but no chromosomal anomalies have been isolated as an etiology. Recent studies have focused on possible duplications in the 8p22–8p23.1 region but no consensus has been reached. Methods We used bacterial artificial chromosome-fluorescent in-situ hybridization (BAC-FISH and G-band analysis to study eight patients with Kabuki syndrome. Results Metaphase analysis revealed no deletions or duplications with any of the BAC probes. Interphase studies of the Kabuki patients yielded no evidence of inversions when using three-color FISH across the region. These results agree with other research groups' findings but disagree with the findings of Milunsky and Huang. Conclusion It seems likely that Kabuki syndrome is not a contiguous gene syndrome of the 8p region studied.

  10. Partial 1q Duplications and Associated Phenotype

    Science.gov (United States)

    Morris, Marcos L.M.; Baroneza, José E.; Teixeira, Patricia; Medina, Cristina T.N.; Cordoba, Mara S.; Versiani, Beatriz R.; Roese, Liege L.; Freitas, Erika L.; Fonseca, Ana C.S.; dos Santos, Maria C.G.; Pic-Taylor, Aline; Rosenberg, Carla; Oliveira, Silviene F.; Ferrari, Iris; Mazzeu, Juliana F.

    2016-01-01

    Duplications of the long arm of chromosome 1 are rare. Distal duplications are the most common and have been reported as either pure trisomy or unbalanced translocations. The paucity of cases with pure distal 1q duplications has made it difficult to delineate a partial distal trisomy 1q syndrome. Here, we report 2 patients with overlapping 1q duplications detected by G-banding. Array CGH and FISH were performed to characterize the duplicated segments, exclude the involvement of other chromosomes and determine the orientation of the duplication. Patient 1 presents with a mild phenotype and carries a 22.5-Mb 1q41q43 duplication. Patient 2 presents with a pure 1q42.13qter inverted duplication of 21.5 Mb, one of the smallest distal 1q duplications ever described and one of the few cases characterized by array CGH, thus contributing to a better characterization of distal 1q duplication syndrome. PMID:27022331

  11. Molecular cloning and expression analysis of duplicated polyphenol oxidase genes reveal their functional differentiations in sorghum.

    Science.gov (United States)

    Yan, Song; Li, Sujuan; Zhai, Guowei; Lu, Ping; Deng, Hui; Zhu, Shan; Huang, Renliang; Shao, Jianfeng; Tao, Yuezhi; Zou, Guihua

    2017-10-01

    Polyphenol oxidase (PPO) is believed to play a role in plant growth, reproduction, and resistance to pathogens and pests. PPO causes browning of grains in cereals. In this study, genetic mapping of sorghum grain for phenol color reaction (PHR) was performed using a recombinant inbred line population. Only one locus was detected between SSR markers SM06072 and Xtxp176 on chromosome 6. Two linked orthologous genes (Sb06PPO1 and Sb06PPO2) within the mapped region were discovered and cloned. Transformation experiments using Nipponbare (a PHR negative rice cultivar) showed that Sb06PPO1 from LTR108 and two Sb06PPO2 alleles from both varieties could complement Nipponbare, whereas Sb06PPO1 from 654 could not. Subsequent quantitative real-time PCR (qPCR) experiments showed that Sb06PPO1 and Sb06PPO2 functioned diversely, Sb06PPO1 was mainly expressed in young panicles before flowering. Sb06PPO2 was strongly expressed in flowering panicles, especially in hulls and branches at filling stage. Moreover, the expression of Sb06PPO1 was found to be significantly up-regulated by exogenous ABA and salt, whereas Sb06PPO2 was not changed significantly, further demonstrating functional differentiation between the two genes. Copyright © 2017 Elsevier B.V. All rights reserved.

  12. Opposing phenotypes in mice with Smith-Magenis deletion and Potocki-Lupski duplication syndromes suggest gene dosage effects on fluid consumption behavior.

    Science.gov (United States)

    Heck, Detlef H; Gu, Wenli; Cao, Ying; Qi, Shuhua; Lacaria, Melanie; Lupski, James R

    2012-11-01

    A quantitative long-term fluid consumption and fluid-licking assay was performed in two mouse models with either an ∼2 Mb genomic deletion, Df(11)17, or the reciprocal duplication copy number variation (CNV), Dp(11)17, analogous to the human genomic rearrangements causing either Smith-Magenis syndrome [SMS; OMIM #182290] or Potocki-Lupski syndrome [PTLS; OMIM #610883], respectively. Both mouse strains display distinct quantitative alterations in fluid consumption compared to their wild-type littermates; several of these changes are diametrically opposing between the two chromosome engineered mouse models. Mice with duplication versus deletion showed longer versus shorter intervals between visits to the waterspout, generated more versus less licks per visit and had higher versus lower variability in the number of licks per lick-burst as compared to their respective wild-type littermates. These findings suggest that copy number variation can affect long-term fluid consumption behavior in mice. Other behavioral differences were unique for either the duplication or deletion mutants; the deletion CNV resulted in increased variability of the licking rhythm, and the duplication CNV resulted in a significant slowing of the licking rhythm. Our findings document a readily quantitated complex behavioral response that can be directly and reciprocally influenced by a gene dosage effect.

  13. Duplication at Xq13.3-q21.1 with syndromic intellectual disability, a probable role for the ATRX gene.

    Science.gov (United States)

    Martínez, Francisco; Roselló, Mónica; Mayo, Sonia; Monfort, Sandra; Oltra, Silvestre; Orellana, Carmen

    2014-04-01

    Here we report on two unrelated male patients with syndromic intellectual disability (ID) due to duplication at Xq13.3-q21.1, a region of about 6 Mb and 25 genes. Among these, the most outstanding is ATRX, the causative gene of X-linked alpha-thalassemia/mental retardation. ATRX belongs to the growing list of genes implied in chromatin remodeling causing ID. Many these genes, such as MECP2, are dose-sensitive so that not only deletions and point mutations, but also duplications cause ID. Both patients have severe ID, absent expressive speech, early hypotonia, behavior problems (hyperactivity, repetitive self-stimulatory behavior), postnatal growth deficiency, microcephaly, micrognathia, cryptorchidism, low-set, posteriorly angulated ears, and downslanting palpebral fissures. These findings are also usually present among patients with loss-of-function mutations of the ATRX gene. Completely skewed X inactivation was observed in the only informative carrier mother, a constant finding among female carriers of inactivating point mutations of this gene. Participation of other duplicated genes cannot be excluded; nevertheless we propose that the increased dosage of ATRX is the major pathogenic mechanism of this X-linked disorder, a syndrome reminiscent of MECP2 duplication.

  14. Differential Regulation of Duplicate Light-Dependent Protochlorophyllide Oxidoreductases in the Diatom Phaeodactylum tricornutum.

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    Heather M Hunsperger

    Full Text Available Diatoms (Bacilliariophyceae encode two light-dependent protochlorophyllide oxidoreductases (POR1 and POR2 that catalyze the penultimate step of chlorophyll biosynthesis in the light. Algae live in dynamic environments whose changing light levels induce photoacclimative metabolic shifts, including altered cellular chlorophyll levels. We hypothesized that the two POR proteins may be differentially adaptive under varying light conditions. Using the diatom Phaeodactylum tricornutum as a test system, differences in POR protein abundance and por gene expression were examined when this organism was grown on an alternating light:dark cycles at different irradiances; exposed to continuous light; and challenged by a significant decrease in light availability.For cultures maintained on a 12h light: 12h dark photoperiod at 200μE m-2 s-1 (200L/D, both por genes were up-regulated during the light and down-regulated in the dark, though por1 transcript abundance rose and fell earlier than that of por2. Little concordance occurred between por1 mRNA and POR1 protein abundance. In contrast, por2 mRNA and POR2 protein abundances followed similar diurnal patterns. When 200L/D P. tricornutum cultures were transferred to continuous light (200L/L, the diurnal regulatory pattern of por1 mRNA abundance but not of por2 was disrupted, and POR1 but not POR2 protein abundance dropped steeply. Under 1200μE m-2 s-1 (1200L/D, both por1 mRNA and POR1 protein abundance displayed diurnal oscillations. A compromised diel por2 mRNA response under 1200L/D did not impact the oscillation in POR2 abundance. When cells grown at 1200L/D were then shifted to 50μE m-2 s-1 (50L/D, por1 and por2 mRNA levels decreased swiftly but briefly upon light reduction. Thereafter, POR1 but not POR2 protein levels rose significantly in response to this light stepdown.Given the sensitivity of diatom por1/POR1 to real-time light cues and adherence of por2/POR2 regulation to the diurnal cycle, we suggest

  15. The differential diagnosis of familial lentiginosis syndromes.

    Science.gov (United States)

    Lodish, Maya B; Stratakis, Constantine A

    2011-09-01

    Cutaneous markers of systemic disease are vital for clinicians to recognize. This chapter outlines familial lentiginosis syndromes that include Peutz-Jeghers syndrome, Carney Complex, the PTEN hamartomatous syndromes, and LEOPARD/Noonan syndrome. The inheritance of these syndromes is autosomal dominant; they also share characteristic skin findings that offer a clue to their recognition and treatment. We will discuss the clinical presentation of these disorders, with a focus on the dermatological manifestations, and will provide an update on the molecular mechanisms involved. Recognition of cutaneous markers associated with these rare familial cancer syndromes provides the opportunity to pursue early surveillance for malignancies, as well as genetic counseling.

  16. Distal Xq duplication and functional Xq disomy

    Directory of Open Access Journals (Sweden)

    Schluth-Bolard Caroline

    2009-02-01

    Full Text Available Abstract Distal Xq duplications refer to chromosomal disorders resulting from involvement of the long arm of the X chromosome (Xq. Clinical manifestations widely vary depending on the gender of the patient and on the gene content of the duplicated segment. Prevalence of Xq duplications remains unknown. About 40 cases of Xq28 functional disomy due to cytogenetically visible rearrangements, and about 50 cases of cryptic duplications encompassing the MECP2 gene have been reported. The most frequently reported distal duplications involve the Xq28 segment and yield a recognisable phenotype including distinctive facial features (premature closure of the fontanels or ridged metopic suture, broad face with full cheeks, epicanthal folds, large ears, small and open mouth, ear anomalies, pointed nose, abnormal palate and facial hypotonia, major axial hypotonia, severe developmental delay, severe feeding difficulties, abnormal genitalia and proneness to infections. Xq duplications may be caused either by an intrachromosomal duplication or an unbalanced X/Y or X/autosome translocation. In XY males, structural X disomy always results in functional disomy. In females, failure of X chromosome dosage compensation could result from a variety of mechanisms, including an unfavourable pattern of inactivation, a breakpoint separating an X segment from the X-inactivation centre in cis, or a small ring chromosome. The MECP2 gene in Xq28 is the most important dosage-sensitive gene responsible for the abnormal phenotype in duplications of distal Xq. Diagnosis is based on clinical features and is confirmed by CGH array techniques. Differential diagnoses include Prader-Willi syndrome and Alpha thalassaemia-mental retardation, X linked (ATR-X. The recurrence risk is significant if a structural rearrangement is present in one of the parent, the most frequent situation being that of an intrachromosomal duplication inherited from the mother. Prenatal diagnosis is performed by

  17. The Usage Evolution of Syndrome and the Production of the Term Differentiation of Syndromes in the Ancient Literature

    Institute of Scientific and Technical Information of China (English)

    Wu Feng; Li Fei

    2012-01-01

    Syndrome stood for disease name and symptom in the ancient medical literature prior to the Tang Dynasty.With the development of pathogenesis theory,the meaning pathogenesis of syndrome came into being and the term differentiation of syndromes came into existence in the Song,Jin and Yuan Dynasties,hence differentiation of syndromes gradually became a diagnostics term of differentiating pathogenesis.

  18. A Rare Interstitial Duplication of 8q22.1–8q24.3 Associated with Syndromic Bilateral Cleft Lip/Palate

    Directory of Open Access Journals (Sweden)

    Regina Ferreira Rezek

    2014-01-01

    Full Text Available We present a rare case of 8q interstitial duplication derived from maternal balanced translocations in a patient with bilateral cleft lip and palate in syndromic form associated with other congenital malformations. G-banding cytogenetic analysis revealed a chromosomal abnormality in the form of the karyotype 46,XX der(22t(8;22(q22.1;p11.1mat. Chromosome microarray analysis evidenced a 49 Mb duplicated segment of chromosome 8q with no pathogenic imbalances on chromosome 22. Two siblings also carry the balanced translocation. We have compared this case with other “pure” trisomies of 8q patients reported in the literature and with genome wide association studies recently published. This work highlights the involvement of chromosome 8q in orofacial clefts.

  19. [Rethinking on application of "syndrome differentiation through formula effect assessment"].

    Science.gov (United States)

    Tang, Shi-huan; Yang, Hong-jun; Huang, Lu-qi

    2007-03-01

    By summarizing the state of application of "syndrome differentiation through formula effect assessment", it was pointed out that several problems exist in this kind of study, mainly the irrational setting of experimental control group, over simplified pharmacodynamic indexes, and negligence of study on "correspondence between drug and disease", etc. The authors proposed accordingly the thinking methods and strategy in the study on "syndrome differentiation through formula effect assessment" should be setting control properly, taken "correspondence between disease and syndrome" as the key point, and to define clearly the criteria for evaluating the efficacy of formula as the premise.

  20. Progressive cerebellar degenerative changes in the severe mental retardation syndrome caused by duplication of MECP2 and adjacent loci on Xq28.

    LENUS (Irish Health Repository)

    Reardon, William

    2010-08-01

    Localised duplications, involving the MECP2 locus, at Xq28 have been associated with a syndrome comprising X-linked mental retardation, hypotonia and recurrent infections in males. We now present neuroradiological evidence that progressive cerebellar degenerative changes may also be a consistent feature of this syndrome, emerging in the second decade of life. We report seven affected males, from three different families who, in addition to the previously described clinical findings, have a reduction in the volume of the white matter and mild dilatation of the lateral ventricles. Three of the older patients show a consistent cerebellar degenerative phenotype. Furthermore, we describe the first female affected with the disorder. The female was mildly affected and shows X-inactivation in the ratio of 70:30, demonstrating that X-inactivation cannot be exclusively relied upon to spare the female carriers from symptoms. In conclusion, there is a radiological phenotype associated with Xq28 duplication which clearly demonstrates progressive degenerative cerebellar disease as part of the syndrome.

  1. A novel unstable duplication upstream of HAS2 predisposes to a breed-defining skin phenotype and a periodic fever syndrome in Chinese Shar-Pei dogs.

    Directory of Open Access Journals (Sweden)

    Mia Olsson

    2011-03-01

    Full Text Available Hereditary periodic fever syndromes are characterized by recurrent episodes of fever and inflammation with no known pathogenic or autoimmune cause. In humans, several genes have been implicated in this group of diseases, but the majority of cases remain unexplained. A similar periodic fever syndrome is relatively frequent in the Chinese Shar-Pei breed of dogs. In the western world, Shar-Pei have been strongly selected for a distinctive thick and heavily folded skin. In this study, a mutation affecting both these traits was identified. Using genome-wide SNP analysis of Shar-Pei and other breeds, the strongest signal of a breed-specific selective sweep was located on chromosome 13. The same region also harbored the strongest genome-wide association (GWA signal for susceptibility to the periodic fever syndrome (p(raw = 2.3 × 10⁻⁶, p(genome = 0.01. Dense targeted resequencing revealed two partially overlapping duplications, 14.3 Kb and 16.1 Kb in size, unique to Shar-Pei and upstream of the Hyaluronic Acid Synthase 2 (HAS2 gene. HAS2 encodes the rate-limiting enzyme synthesizing hyaluronan (HA, a major component of the skin. HA is up-regulated and accumulates in the thickened skin of Shar-Pei. A high copy number of the 16.1 Kb duplication was associated with an increased expression of HAS2 as well as the periodic fever syndrome (p < 0.0001. When fragmented, HA can act as a trigger of the innate immune system and stimulate sterile fever and inflammation. The strong selection for the skin phenotype therefore appears to enrich for a pleiotropic mutation predisposing these dogs to a periodic fever syndrome. The identification of HA as a major risk factor for this canine disease raises the potential of this glycosaminoglycan as a risk factor for human periodic fevers and as an important driver of chronic inflammation.

  2. Restriction of the Patau syndrome to duplication of 13q22{yields}q.32 and possible role of interphase nuclear structure

    Energy Technology Data Exchange (ETDEWEB)

    Helali, A.N.; Jafolla, A.K.; Oumsiych, M.B. [Duke Univ. Medical Center, Durham, NC (United States)

    1994-09-01

    A 10-year-old white male presented with mild microcephaly, slight growth and psychomotor retardation, soft fleshy ears, and normal facial features except for thin lips. No other significant anomalies were reported except for tethered cord discovered at age 8 years. The karyotype was found to be 46,XY,der(18)t(13;18)(q32;p11.32)pat. The mild phenotype appears to be primarily due to the duplication of 13q32{yields}qter. None of the cardinal features of trisomy 13 are found in cases of duplication of bands 13q22 to qter. This case shows that Patau syndrome phenotype does not originate by duplication of 13q32{yields}qter and may thus be restricted to 13q22 to 13q32. The variability in phenotypes points to an alternative explanation to the classical one of additive and interactive gene effects. This model involves effects of changes in chromosome position in the interphase nucleus on gene expression.

  3. Gallbladder duplication

    Directory of Open Access Journals (Sweden)

    Yagan Pillay

    2015-01-01

    Conclusion: Duplication of the gallbladder is a rare congenital abnormality, which requires special attention to the biliary ductal and arterial anatomy. Laparoscopic cholecystectomy with intraoperative cholangiography is the appropriate treatment in a symptomatic gallbladder. The removal of an asymptomatic double gallbladder remains controversial.

  4. Differentiating PFAPA syndrome from monogenic periodic fevers.

    Science.gov (United States)

    Gattorno, Marco; Caorsi, Roberta; Meini, Antonella; Cattalini, Marco; Federici, Silvia; Zulian, Francesco; Cortis, Elisabetta; Calcagno, Giuseppina; Tommasini, Alberto; Consolini, Rita; Simonini, Gabriele; Pelagatti, Maria Antonietta; Baldi, Maurizia; Ceccherini, Isabella; Plebani, Alessandro; Frenkel, Joost; Sormani, Maria Pia; Martini, Alberto

    2009-10-01

    To analyze whether there were clinical differences between genetically positive and negative patients fulfilling periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome criteria and to test the accuracy of the Gaslini diagnostic score for identifying patients with PFAPA syndrome with higher probabilities of carrying relevant mutations in genes associated with periodic fevers. Complete clinical and genetic information was available for 393 children with periodic fever; 82 had positive genetic test results, 75 had incomplete genetic test results, and 236 had negative results for MVK, TNFRSF1A, and MEFV mutations. Current diagnostic criteria for PFAPA syndrome were applied. Of 393 children, 210 satisfied PFAPA syndrome criteria; 43 carried diagnostic mutations (mevalonate kinase deficiency: n = 33; tumor necrosis factor receptor-associated periodic syndrome: n = 3; familial Mediterranean fever: n = 7), 37 displayed low-penetrance mutations or incomplete genotypes, and 130 demonstrated negative genetic testing results. Genetically positive patients had higher frequencies of abdominal pain and diarrhea (P < .001), vomiting (P = .006), and cutaneous rash and arthralgia (P = .01). Genetically negative patients had a higher frequency of exudative pharyngitis (P = .010). Genetically undetermined patients showed the same pattern of symptom frequency as genetically negative patients. The Gaslini diagnostic score was able to identify 91% of genetically positive patients correctly, with a global accuracy of 66%. The Gaslini diagnostic score represents a useful tool to identify patients meeting PFAPA syndrome criteria and at low risk of carrying relevant mutations in genes associated with periodic fevers.

  5. Delineation of a new chromosome 20q11.2 duplication syndrome including the ASXL1 gene

    DEFF Research Database (Denmark)

    Avila, Magali; Kirchhoff, Eva Maria; Marle, Nathalie;

    2013-01-01

    We report on three males with de novo overlapping 7.5, 9.8, and 10 Mb duplication of chromosome 20q11.2. Together with another patient previously published in the literature with overlapping 20q11 microduplication, we show that such patients display common clinical features including metopic ridg...

  6. Molecular cytogenetic determination of a deletion/duplication of 1q that results in a trisomy 18 syndrome-like phenotype

    Energy Technology Data Exchange (ETDEWEB)

    Mewar, R.; Harrison, W.; Weaver, D.D.; Palmer, C.; Davee, M.A.; Overhauser, J.

    1994-08-15

    We report on an infant who presented at birth with some characteristics of trisomy 18 syndrome, including low birth weight, facial abnormalities, overlapping fingers, and congenital heart defects. On chromosome analysis, no additional chromosome 18 was observed and both chromosome 18 homologues appeared normal. However, a small piece of chromosomal material of unknown origin was detected at the tip of the long arm of chromosome 1. Fluorescence in situ hybridization (FISH) using whole chromosome 18 painting probes disclosed no additional hybridization at the telomere of 1q, suggesting that the material was derived from another chromosome. Further chromosome painting experiments suggested that the telomeric addition was of chromosome 1 origin. To identify subchromosomal regions involved in the rearrangement, additional FISH analyses were performed using single copy and repetitive DNA probes mapping different portions of chromosome 1. The analyses showed that probes mapping to 1q34-43 were duplicated in the derivative chromosome 1. In addition, a DNA probe mapping to 1q44 was found to be deleted from the derivative chromosome 1. Our composite analysis suggests that a deletion and a duplication of chromosome 1q can result in some of the clinical findings usually associated with trisomy 16 syndrome. These results demonstrate the usefulness of FISH analysis when karyotype analysis is not consistent with the clinical description. 23 refs., 3 figs., 2 tabs.

  7. Autopolyploidy genome duplication preserves other ancient genome duplications in Atlantic salmon (Salmo salar)

    Science.gov (United States)

    Davidson, William S.

    2017-01-01

    Salmonids (e.g. Atlantic salmon, Pacific salmon, and trouts) have a long legacy of genome duplication. In addition to three ancient genome duplications that all teleosts are thought to share, salmonids have had one additional genome duplication. We explored a methodology for untangling these duplications from each other to better understand them in Atlantic salmon. In this methodology, homeologous regions (paralogous/duplicated genomic regions originating from a whole genome duplication) from the most recent genome duplication were assumed to have duplicated genes at greater density and have greater sequence similarity. This assumption was used to differentiate duplicated gene pairs in Atlantic salmon that are either from the most recent genome duplication or from earlier duplications. From a comparison with multiple vertebrate species, it is clear that Atlantic salmon have retained more duplicated genes from ancient genome duplications than other vertebrates--often at higher density in the genome and containing fewer synonymous mutations. It may be that polysomic inheritance is the mechanism responsible for maintaining ancient gene duplicates in salmonids. Polysomic inheritance (when multiple chromosomes pair during meiosis) is thought to be relatively common in salmonids compared to other vertebrate species. These findings illuminate how genome duplications may not only increase the number of duplicated genes, but may also be involved in the maintenance of them from previous genome duplications as well. PMID:28241055

  8. Pallister-Killian syndrome: tetrasomy of 12pter-->12p11.22 in a boy with an analphoid, inverted duplicated marker chromosome.

    Science.gov (United States)

    Huang, X-L; Isabel de Michelena, M; Leon, E; Maher, T A; McClure, R; Milunsky, A

    2007-11-01

    Supernumerary marker chromosomes (SMCs) without detectable alphoid DNA are predicted to have a neocentromere and have been referred to as mitotically stable neocentromere marker chromosomes (NMCs). Here we report the molecular cytogenetic characterization of a new case of Pallister-Killian syndrome (PKS) in a boy with an analphoid, inverted duplicated NMC derived from 12pter-->12p11.22 in his fibroblasts by using high-resolution comparative genetic hybridization (HR-CGH), multiplex fluorescent in situ hybridization (FISH) and bacterial artificial chromosome (BAC)-FISH mapping analyses with various alpha-satellite DNA probes, subtelomere probes and BAC-DNA probes. Precise identification of SMCs and NMCs is of essential importance in genetic counseling. HR-CGH is a more informative and often a faster way of precisely identifying the origin of SMCs. This case is the third report of PKS with an NMC containing an inverted duplication of partial 12p with available clinical data. These observations may help to determine the critical region for PKS and the mechanisms leading to the origin of the NMC derived from 12pter-->12p11.22 - a region that appears to be susceptible to the formation of neocentromeres. The use of subtelomeric probe PCP12p in buccal cells appears superior to the use of the centromere probe D12Z3 for the diagnosis of the PKS.

  9. Molecular analysis of two patients with a duplicated 17p11.2 indicates that this entity may be the reciprocal of the deletion seen in Smith-Magenis syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Brown, A.; Schwartz, C.; Rogers, R.C. [Greenwood Genetic Center, SC (United States)] [and others

    1994-09-01

    J.M. and H.G. are two unrelated patients that presented at an early age with developmental delay and failure to thrive. Clinical features specific to J.M. include unusual facies, global developmental delay, and clinodactyly of the fifth toe. A cytogenetic analysis of H.G. was performed on amniocytes obtained due to a low MSAFP conducted as part of a routine screening. In both J.M. and H.G., a duplication of chromosome 17p11.2 was discovered. The extent of the duplicated region was determined using single copy DNA probes: cen-D17S58-D17S29-D17S258-D17S71-D17S445-tel. All of the markers were found to be duplicated by dosage analysis except for D17S58. FISH analysis of H.G., using the Smith-Magenis diagnostic probe obtained from ONCOR, also detected a duplication in 17p11.2. The chromosome containing the duplication could be the result of unequal crossing over due to a misalignment of the two chromosomes during meiosis I. It has been shown that the markers deleted in Smith-Magenis syndrome (SMS) patients are the same as those markers duplicated in J.M. and H.G. Therefore, the chromosomal duplication in 17p11.2 observed in these two patients could be the reciprocal of the chromosomal deletion seen in Smith-Magenis syndrome patients. Interestingly, a similar reciprocal duplication/deletion event is observed for CMT1A and HNPP (hereditary neuropathy with liability to pressure palsies) just distal to the SMS region.

  10. A large duplication in the gene for lysyl hydroxylase accounts for the type VI variant of Ehlers-Danlos syndrome in two siblings

    Energy Technology Data Exchange (ETDEWEB)

    Hautala, T.; Heikkinen, J.; Kivirikko, K.I.; Myllylae, R. (Univ. of Oulu (Finland))

    1993-02-01

    Ehlers-Danlos syndrome is a deterogeneous disorder characterized by joint hypermobility, skin hyperextensibility, fragility, and other sign of connective tissue involvement. In addition to these, the type VI variant of the disease has some special characteristics such as kyphoscoliosis and ocular abnormalities. The biochemical abnormality in most patients with this autosomal recessively inherited type IV variant is a deficiency in the activity of lysyl hydroxylase (EC 1.14,11.4), the enzyme catalyzing the formation of hydroxylysine in collagens and other proteins with collagen-like amino acid sequences. The type VI variant of Ehlers-Danlos syndrome was first identified in two sisters with a reduced amount of lysyl hydroxylase activity in their skin fibroblasts (S.R. Pinnell, S.M. Krane, J.E. Kenzora, and M.J. Glimcher (1972) N. Engl. J. Med. 286; 1013-1020). Our recent molecular cloning of lysyl hydroxylase has now made it possible to study the mutations leading to the deficiency in lysyl dydroxylase activity in these cells. Our data indicate that the mRNA for lysyl hydroxylase produced in the affected cells is about 4 kb in size, whereas it is 3.2 kb in the control cells. The sequencing of the cDNA for lysyl hydroxylase from the affected cells revealed an apparently homozygous duplication rearrangement of nucleotides 1176 to 1955, corresponding to amino acids 326 to 585 in the normal sequence. From Southern blotting data, the duplicated area in the gene equals about 6-9 kb and corresponds to seven exons. 35 refs., 4 figs.

  11. A duplication CNV that conveys traits reciprocal to metabolic syndrome and protects against diet-induced obesity in mice and men.

    Directory of Open Access Journals (Sweden)

    Melanie Lacaria

    Full Text Available The functional contribution of CNV to human biology and disease pathophysiology has undergone limited exploration. Recent observations in humans indicate a tentative link between CNV and weight regulation. Smith-Magenis syndrome (SMS, manifesting obesity and hypercholesterolemia, results from a deletion CNV at 17p11.2, but is sometimes due to haploinsufficiency of a single gene, RAI1. The reciprocal duplication in 17p11.2 causes Potocki-Lupski syndrome (PTLS. We previously constructed mouse strains with a deletion, Df(1117, or duplication, Dp(1117, of the mouse genomic interval syntenic to the SMS/PTLS region. We demonstrate that Dp(1117 is obesity-opposing; it conveys a highly penetrant, strain-independent phenotype of reduced weight, leaner body composition, lower TC/LDL, and increased insulin sensitivity that is not due to alteration in food intake or activity level. When fed with a high-fat diet, Dp(1117/+ mice display much less weight gain and metabolic change than WT mice, demonstrating that the Dp(1117 CNV protects against metabolic syndrome. Reciprocally, Df(1117/+ mice with the deletion CNV have increased weight, higher fat content, decreased HDL, and reduced insulin sensitivity, manifesting a bona fide metabolic syndrome. These observations in the deficiency animal model are supported by human data from 76 SMS subjects. Further, studies on knockout/transgenic mice showed that the metabolic consequences of Dp(1117 and Df(1117 CNVs are not only due to dosage alterations of Rai1, the predominant dosage-sensitive gene for SMS and likely also PTLS. Our experiments in chromosome-engineered mouse CNV models for human genomic disorders demonstrate that a CNV can be causative for weight/metabolic phenotypes. Furthermore, we explored the biology underlying the contribution of CNV to the physiology of weight control and energy metabolism. The high penetrance, strain independence, and resistance to dietary influences associated with the CNVs in

  12. A duplication CNV that conveys traits reciprocal to metabolic syndrome and protects against diet-induced obesity in mice and men.

    Science.gov (United States)

    Lacaria, Melanie; Saha, Pradip; Potocki, Lorraine; Bi, Weimin; Yan, Jiong; Girirajan, Santhosh; Burns, Brooke; Elsea, Sarah; Walz, Katherina; Chan, Lawrence; Lupski, James R; Gu, Wenli

    2012-01-01

    The functional contribution of CNV to human biology and disease pathophysiology has undergone limited exploration. Recent observations in humans indicate a tentative link between CNV and weight regulation. Smith-Magenis syndrome (SMS), manifesting obesity and hypercholesterolemia, results from a deletion CNV at 17p11.2, but is sometimes due to haploinsufficiency of a single gene, RAI1. The reciprocal duplication in 17p11.2 causes Potocki-Lupski syndrome (PTLS). We previously constructed mouse strains with a deletion, Df(11)17, or duplication, Dp(11)17, of the mouse genomic interval syntenic to the SMS/PTLS region. We demonstrate that Dp(11)17 is obesity-opposing; it conveys a highly penetrant, strain-independent phenotype of reduced weight, leaner body composition, lower TC/LDL, and increased insulin sensitivity that is not due to alteration in food intake or activity level. When fed with a high-fat diet, Dp(11)17/+ mice display much less weight gain and metabolic change than WT mice, demonstrating that the Dp(11)17 CNV protects against metabolic syndrome. Reciprocally, Df(11)17/+ mice with the deletion CNV have increased weight, higher fat content, decreased HDL, and reduced insulin sensitivity, manifesting a bona fide metabolic syndrome. These observations in the deficiency animal model are supported by human data from 76 SMS subjects. Further, studies on knockout/transgenic mice showed that the metabolic consequences of Dp(11)17 and Df(11)17 CNVs are not only due to dosage alterations of Rai1, the predominant dosage-sensitive gene for SMS and likely also PTLS. Our experiments in chromosome-engineered mouse CNV models for human genomic disorders demonstrate that a CNV can be causative for weight/metabolic phenotypes. Furthermore, we explored the biology underlying the contribution of CNV to the physiology of weight control and energy metabolism. The high penetrance, strain independence, and resistance to dietary influences associated with the CNVs in this study

  13. [Differential diagnosis of essential adiposity and Cushings syndrome].

    Science.gov (United States)

    Kubel, M; Schwerdtner, U

    1975-04-01

    On account of the increasing number of patients with essential obesity the delimitation of the Cushing-syndrome is of actual importance. Two observations of hypercortisolism in hyperplasia of the adrenal glands are reported on and the differential-diagnostically important parameters are demonstrated. According to our opinion anamnesis and clinical findings give the possibility of making a diagnosis already on a large scale. Analyses of the hormones and special X-ray examinations only serve for the preoperative ascertainment and localisation of the endocrine defective function. With the help of literary data causes and possibilities of treatment of Cushing's syndrome are entered.

  14. Differentiating Familial Neuropathies from Guillain-Barré Syndrome.

    Science.gov (United States)

    Bordini, Brett J; Monrad, Priya

    2017-02-01

    Differentiating Guillain-Barré syndrome (GBS) from inherited neuropathies and other acquired peripheral neuropathies requires understanding the atypical presentations of GBS and its variant forms, as well as historical and physical features suggestive of inherited neuropathies. GBS is typically characterized by the acute onset of ascending flaccid paralysis, areflexia, and dysesthesia secondary to peripheral nerve fiber demyelination. The disorder usually arises following a benign gastrointestinal or respiratory illness, is monophasic, reaches a nadir with several weeks, and responds to immunomodulatory therapy. Inherited neuropathies with onset before adulthood, whose presentation may mimic Guillain-Barré syndrome, are reviewed. Copyright © 2016 Elsevier Inc. All rights reserved.

  15. Meckel Syndrome: Genetics, Perinatal Findings, and Differential Diagnosis

    Directory of Open Access Journals (Sweden)

    Chih-Ping Chen

    2007-03-01

    Full Text Available Meckel syndrome (MKS is a lethal, autosomal recessive disorder characterized by occipital encephalocele, bilateral renal cystic dysplasia, hepatic ductal proliferation, fibrosis and cysts, and polydactyly. Genetic heterogeneity of MKS has been established by three reported MKS loci, i.e., MKS1 on 17q23, MKS2 on 11q13, and MKS3 on 8q21.13-q22.1. MKS1 encodes a component of flagellar apparatus basal body proteome, which is associated with ciliary function. MKS3 encodes a seven-transmembrane receptor protein, meckelin. The identification of the MKS3 gene as well as the MKS1 gene enables molecular genetic testing for at-risk families, and allows accurate genetic counseling, carrier testing, and prenatal diagnosis. Pregnancies with MKS fetuses may be associated with an elevated maternal serum α-fetoprotein level and an abnormal screening result in the second-trimester maternal serum screening test. The classic MKS triad of occipital encephalocele, postaxial polydactyly, and bilateral enlarged multicystic kidneys can be diagnosed before the 14th gestational weeks by ultrasonography. However, later in pregnancy, severe oligohydramnios may make the diagnosis of polydactyly and encephalocele difficult. Differential diagnosis for MKS includes autosomal recessive polycystic kidney disease, trisomy 13, Smith-Lemli-Opitz syndrome, hydrolethalus syndrome, Senior-Loken syndrome, Joubert syndrome, Bardet-Biedl syndrome, and oral-facial-digital syndrome type 1. This article provides an overview of genetics, perinatal findings, and differential diagnosis of MKS. The ciliopathy underlies the pathogenesis of MKS. Prenatal diagnosis of bilateral enlarged multicystic kidneys should alert MKS and prompt a thorough investigation of central nervous system malformations and polydactyly.

  16. Partial Duplication of Chromosome 8p

    African Journals Online (AJOL)

    rme

    The partial chromosome 8p duplication is a rare syndrome and is ... clinical and cytogenetic data of 5 Arab patients with de novo inversion duplication of 8p. ... characterized by Fluorescent in situ ... thick lower lips, down turned angles of mouth ...

  17. X-linked congenital ptosis and associated intellectual disability, short stature, microcephaly, cleft palate, digital and genital abnormalities define novel Xq25q26 duplication syndrome

    DEFF Research Database (Denmark)

    Møller, R S; Jensen, L R; Maas, S M

    2014-01-01

    Submicroscopic duplications along the long arm of the X-chromosome with known phenotypic consequences are relatively rare events. The clinical features resulting from such duplications are various, though they often include intellectual disability, microcephaly, short stature, hypotonia, hypogona...

  18. Differential diagnostic algorithm for diseases manifested with heart murmurs syndrome.

    Science.gov (United States)

    Naumov, Leonid B

    2009-08-01

    Diagnostic interpretation at auscultation of heart murmurs is accompanied by frequent errors. It creates serious clinical, pedagogical, organizational and social problems. The standard nosological principle of a clinical information description from the diagnosis (a disease name) to the description of symptoms/signs contradicts to real clinical practice from revealing of symptoms through differential diagnostics to a diagnosis establishment. The differential diagnostic algorithm or diagnostic algorithm developed by the author, is based on the opposite syndromic principle of thinking - from the signs to the diagnosis. It completely corresponds to the practical purposes of reliable diagnostics of 35 illnesses, manifested by heart murmurs at a heart auscultation.

  19. Malformation/dysplasia syndrome (neural tube defect, hypospadias neuroblastoma) associated with an extra dicentric marker chromosome 15 ({open_quotes}inversion duplication 15{close_quotes})

    Energy Technology Data Exchange (ETDEWEB)

    Reitnauer, P.J.; Rao, K.W.; Tepperberg, J.H. [Univ. of North Carolina, Chapel Hill, NC (United States)

    1994-09-01

    Extra dicentric 15 marker chromosomes are associated with variable degrees of mental retardation but not major structural birth defects. We have studied a unique patient, a male infant who was prenatally diagnosed with lumbar meningomyelocele and an extra pseudodicentric marker chromosome: 47,XY,+psu dic(15)t(15;15)(?q12,?q12)mat. Hairy ears and a coronal hypospadias were noted at birth. At three months of age, a stage I thoracic neuroblastoma was primarily resected. Tumor cells, skin fibroblasts and peripheral blood lymphocytes contained the dicentric 15. The mother is mosaic for the marker chromosome. Fluorescence in situ hybridization (FISH) studies using a classic 15 satellite probe (D15Z1 [Oncor]) confirmed the presence of 2 number 15 centromeres in the marker. The marker is felt to be the result of a translocation rather than an inverted duplication because the G-band morphology of the short arm/satellite complexes differ from one another, implying that the arms originate from 2 different number 15s. FISH analysis using cosmid probes for the Prader-Willi/Angelman critical region (D15S11 and GABRB3 [Oncor]) revealed 2 copies of this region, indicating that these loci are duplicated in the marker. Although some features of the patient`s phenotype such as developmental delay and hypotonia have been associated with dicentric chromosome 15 markers, this is the first malformation/dysplasia syndrome or neuroblastoma reported to our knowledge. The association of neuroblastoma with chromosome 15 aberrations in this case provides speculation as to the role of chromosome 15 loci in cell division control.

  20. Aromatase excess syndrome: identification of cryptic duplications and deletions leading to gain of function of CYP19A1 and assessment of phenotypic determinants.

    Science.gov (United States)

    Fukami, Maki; Shozu, Makio; Soneda, Shun; Kato, Fumiko; Inagaki, Akemi; Takagi, Hiroshi; Hanaki, Keiichi; Kanzaki, Susumu; Ohyama, Kenji; Sano, Tomoaki; Nishigaki, Toshinori; Yokoya, Susumu; Binder, Gerhard; Horikawa, Reiko; Ogata, Tsutomu

    2011-06-01

    Aromatase excess syndrome (AEXS) is a rare autosomal dominant disorder characterized by gynecomastia. Although cryptic inversions leading to abnormal fusions between CYP19A1 encoding aromatase and its neighboring genes have been identified in a few patients, the molecular basis remains largely unknown. The objective of the study was to examine the genetic causes and phenotypic determinants in AEXS. Eighteen affected males from six families participated in the study. We identified three types of heterozygous genomic rearrangements, i.e. a 79,156-bp tandem duplication involving seven of 11 noncoding CYP19A1 exons 1, a 211,631-bp deletion involving exons 2-43 of DMXL2 and exons 5-10 of GLDN, and a 165,901-bp deletion involving exons 2-43 of DMXL2. The duplicated exon 1 functioned as transcription start sites, and the two types of deletions produced the same chimeric mRNA consisting of DMXL2 exon 1 and CYP19A1 coding exons. The DMXL2 exon 1 harbored a translation start codon, and the DMXL2/CYP19A1 chimeric mRNA was identified in only 2-5% of CYP19A1-positive transcripts. This was in contrast to the inversion-mediated chimeric mRNA that had no coding sequence on the fused exon 1 and accounted for greater than 80% of CYP19A1-positive transcripts. CYP19A1 was expressed in a limited number of tissues, whereas its neighboring genes involved in the chimeric mRNA formation were expressed widely. This study provides novel mechanisms leading to gain of function of CYP19A1. Furthermore, it appears that clinical severity of AEXS is primarily determined by the tissue expression pattern of relevant genes and by the structural property of promoter-associated exons of chimeric mRNA.

  1. Rare form of autosomal dominant familial Cornelia de Lange syndrome due to a novel duplication in SMC3.

    Science.gov (United States)

    Infante, Elena; Alkorta-Aranburu, Gorka; El-Gharbawy, Areeg

    2017-08-01

    Clinical features are variable in patients with Cornelia de Lange syndrome (CdLS). Milder forms exist with structural maintenance of chromosomes 3 (SMC3) mutations. Inherited milder forms of CdLS are uncommon and may be missed if genetic testing is limited to Nipped-B-like protein (NIPBL) and SMC1A. Parental studies should be pursued if there is a history of learning disabilities and/or dysmorphic features.

  2. Inherited Xq13.2-q21.31 duplication in a boy with recurrent seizures and pubertal gynecomastia: Clinical, chromosomal and aCGH characterization

    Directory of Open Access Journals (Sweden)

    Natália D. Linhares

    2016-09-01

    Full Text Available We report on a 16-year-old boy with a maternally inherited ~18.3 Mb Xq13.2-q21.31 duplication delimited by aCGH. As previously described in patients with similar duplications, his clinical features included intellectual disability, developmental delay, speech delay, generalized hypotonia, infantile feeding difficulties, self-injurious behavior, short stature and endocrine problems. As additional findings, he presented recurrent seizures and pubertal gynecomastia. His mother was phenotypically normal and had completely skewed inactivation of the duplicated X chromosome, as most female carriers of such duplications. Five previously reported patients with partial Xq duplications presented duplication breakpoints similar to those of our patient. One of them, a fetus with multiple congenital abnormalities, had the same cytogenetic duplication breakpoint. Three of the reported patients shared many features with our proband but the other had some clinical features of the Prader-Willi syndrome. It was suggested that ATRX overexpression could be involved in the major clinical features of patients with partial Xq duplications. We propose that this gene could also be involved with the obesity of the patient with the Prader-Willi-like phenotype. Additionally, we suggest that the PCDH11X gene could be a candidate for our patient's recurrent seizures. In males, the Xq13-q21 duplication should be considered in the differential diagnosis of Prader-Willi syndrome, as previously suggested, and neuromuscular diseases, particularly mitochondriopathies.

  3. 《伤寒论》辨证方法探讨%The method on syndrome differentiation in Shanghan Lun

    Institute of Scientific and Technical Information of China (English)

    杨运高

    2012-01-01

    Based on investigating the differentiating method of Shanghan Lun, the authors pointed out that the differentiating method of Shanghan Lun was programmatic syndrome differentiation of six channels, zang-fu viscera syndrome differentiation, major syndrome differentiation, pulse condition syndrome differentiation, induction syndrome differentiation and heuristics syndrome differentiation.%探讨《伤寒论》辨证的方法,认为其主要有六经为纲、脏腑定位、主症辨证、主脉辨证、类证辨证、试探性辨证等辨证方法.

  4. Startling mosaicism of the Y-chromosome and tandem duplication of the SRY and DAZ genes in patients with Turner Syndrome.

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    Sanjay Premi

    Full Text Available Presence of the human Y-chromosome in females with Turner Syndrome (TS enhances the risk of development of gonadoblastoma besides causing several other phenotypic abnormalities. In the present study, we have analyzed the Y chromosome in 15 clinically diagnosed Turner Syndrome (TS patients and detected high level of mosaicisms ranging from 45,XO:46,XY = 100:0% in 4; 45,XO:46,XY:46XX = 4:94:2 in 8; and 45,XO:46,XY:46XX = 50:30:20 cells in 3 TS patients, unlike previous reports showing 5-8% cells with Y- material. Also, no ring, marker or di-centric Y was observed in any of the cases. Of the two TS patients having intact Y chromosome in >85% cells, one was exceptionally tall. Both the patients were positive for SRY, DAZ, CDY1, DBY, UTY and AZFa, b and c specific STSs. Real Time PCR and FISH demonstrated tandem duplication/multiplication of the SRY and DAZ genes. At sequence level, the SRY was normal in 8 TS patients while the remaining 7 showed either absence of this gene or known and novel mutations within and outside of the HMG box. SNV/SFV analysis showed normal four copies of the DAZ genes in these 8 patients. All the TS patients showed aplastic uterus with no ovaries and no symptom of gonadoblastoma. Present study demonstrates new types of polymorphisms indicating that no two TS patients have identical genotype-phenotype. Thus, a comprehensive analysis of more number of samples is warranted to uncover consensus on the loci affected, to be able to use them as potential diagnostic markers.

  5. Partial tetrasomy 12pter-12p12.3 in a girl with Pallister-Killian syndrome: extraordinary finding of an analphoid, inverted duplicated marker.

    Science.gov (United States)

    Dufke, A; Walczak, C; Liehr, T; Starke, H; Trifonov, V; Rubtsov, N; Schöning, M; Enders, H; Eggermann, T

    2001-08-01

    Cytogenetic analysis in a girl with multiple congenital anomalies indicating Pallister-Killian syndrome (PKS) showed a supernumerary marker chromosome in 1/76 lymphocytes and 34/75 fibroblast metaphases. GTG-banding pattern was consistent with the chromosomal region 12pter-12q11. While fluorescence-in-situ hybridisation (FISH) with a whole chromosome 12 painting probe confirmed the origin of the marker, a chromosome 12 specific alpha-satellite probe did not hybridise to it. FISH analysis with a specific subtelomeric probe 12p showed hybridisation to both ends of the marker chromosome. High-resolution multicolour-banding (MCB) studies revealed the marker to be a der(12)(pter-->p12.3::p12.3-->pter). Summarising the FISH information, we defined the marker as an inverted duplication of 12pter-12p12.3 leading to partial tetrasomy of chromosome 12p. In skin fibroblasts, cultured at the patient's age of 1 year and 9 years, the marker chromosome was found in similar frequencies, even after several culture passages. Therefore, we consider the marker to have a functional centromere although it lacks detectable centromeric alpha-satellite sequences. To the best of our knowledge, this is the first proven analphoid marker of chromosome 12. Molecular genetic studies indicated that this marker is of paternal origin. The finding of partial tetrasomy 12pter-12p12.3 in our PKS patient allows to narrow down the critical region for PKS.

  6. Multiple recurrent de novo copy number variations (CNVs), including duplications of the 7q11.23 Williams-Beuren syndrome region, are strongly associated with autism

    Science.gov (United States)

    Sanders, Stephan J.; Ercan-Sencicek, A. Gulhan; Hus, Vanessa; Luo, Rui; Murtha, Michael T.; Moreno-De-Luca, Daniel; Chu, Su H.; Moreau, Michael P.; Gupta, Abha R.; Thomson, Susanne A.; Mason, Christopher E.; Bilguvar, Kaya; Celestino-Soper, Patricia B. S.; Choi, Murim; Crawford, Emily L.; Davis, Lea; Wright, Nicole R. Davis; Dhodapkar, Rahul M.; DiCola, Michael; DiLullo, Nicholas M.; Fernandez, Thomas V.; Fielding-Singh, Vikram; Fishman, Daniel O.; Frahm, Stephanie; Garagaloyan, Rouben; Goh, Gerald S.; Kammela, Sindhuja; Klei, Lambertus; Lowe, Jennifer K.; Lund, Sabata C.; McGrew, Anna D.; Meyer, Kyle A.; Moffat, William J.; Murdoch, John D.; O'Roak, Brian J.; Ober, Gordon T.; Pottenger, Rebecca S.; Raubeson, Melanie J.; Song, Youeun; Wang, Qi; Yaspan, Brian L.; Yu, Timothy W.; Yurkiewicz, Ilana R.; Beaudet, Arthur L.; Cantor, Rita M.; Curland, Martin; Grice, Dorothy E.; Günel, Murat; Lifton, Richard P.; Mane, Shrikant M.; Martin, Donna M.; Shaw, Chad A.; Sheldon, Michael; Tischfield, Jay A.; Walsh, Christopher A.; Morrow, Eric M.; Ledbetter, David H.; Fombonne, Eric; Lord, Catherine; Martin, Christa Lese; Brooks, Andrew I.; Sutcliffe, James S.; Cook, Edwin H.; Geschwind, Daniel; Roeder, Kathryn; Devlin, Bernie; State, Matthew W.

    2014-01-01

    Summary Given prior evidence for the contribution of rare copy number variations (CNVs) to autism spectrum disorders (ASD), we studied these events in 4,457 individuals from 1,174 simplex families, composed of parents, a proband and, in most kindreds, an unaffected sibling. We find significant association of ASD with de novo duplications of 7q11.23, where the reciprocal deletion causes Williams-Beuren syndrome, featuring a highly social personality. We identify rare recurrent de novo CNVs at five additional regions including two novel ASD loci, 16p13.2 (including the genes USP7 and C16orf72) and Cadherin13, and implement a rigorous new approach to evaluating the statistical significance of these observations. Overall, we find large de novo CNVs carry substantial risk (OR=3.55; CI =2.16-7.46, p=6.9 × 10−6); estimate the presence of 130-234 distinct ASD-related CNV intervals across the genome; and, based on data from multiple studies, present compelling evidence for the association of rare de novo events at 7q11.23, 15q11.2-13.1, 16p11.2, and Neurexin1. PMID:21658581

  7. Pathophysiology, clinical features and radiological findings of differentiation syndrome/all-trans-retinoic acid syndrome

    Institute of Scientific and Technical Information of China (English)

    Luciano; Cardinale; Francesco; Asteggiano; Federica; Moretti; Federico; Torre; Stefano; Ulisciani; Carmen; Fava; Giovanna; Rege-Cambrin

    2014-01-01

    In acute promyelocytic leukemia, differentiation thera-py based on all-trans-retinoic acid can be complicated by the development of a differentiation syndrome(DS). DS is a life-threatening complication, characterized by respiratory distress, unexplained fever, weight gain, interstitial lung infiltrates, pleural or pericardial effusions, hypotension and acute renal failure. The diagnosis of DS is made on clinical grounds and has proven to be difficult, because none of the symptoms is pathognomonic for the syndrome without any definitive diagnostic criteria. As DS can have subtle signs and symptoms at presentation but progress rapidly, end-stage DS clinical picture resembles the acute respiratory distress syndrome with extremely poor prognosis; so it is of absolute importance to be conscious of these complications and initiate therapy as soon as it was suspected. The radiologic appearance resembles the typical features of cardiogenic pulmonary edema. Diagnosis of DS remains a great skill for radiologists and haematologist but it is of an utmost importance the cooperation in suspect DS, detect the early signs of DS, examine the patients’ behaviour and rapidly detect the complications.

  8. Using machine learning techniques to differentiate acute coronary syndrome

    Directory of Open Access Journals (Sweden)

    Sougand Setareh

    2015-02-01

    Full Text Available Backgroud: Acute coronary syndrome (ACS is an unstable and dynamic process that includes unstable angina, ST elevation myocardial infarction, and non-ST elevation myocardial infarction. Despite recent technological advances in early diognosis of ACS, differentiating between different types of coronary diseases in the early hours of admission is controversial. The present study was aimed to accurately differentiate between various coronary events, using machine learning techniques. Such methods, as a subset of artificial intelligence, include algorithms that allow computers to learn and play a major role in treatment decisions. Methods: 1902 patients diagnosed with ACS and admitted to hospital were selected according to Euro Heart Survey on ACS. Patients were classified based on decision tree J48. Bagging aggregation algorithms was implemented to increase the efficiency of algorithm. Results: The performance of classifiers was estimated and compared based on their accuracy computed from confusion matrix. The accuracy rates of decision tree and bagging algorithm were calculated to be 91.74% and 92.53%, respectively. Conclusion: The proposed methods used in this study proved to have the ability to identify various ACS. In addition, using matrix of confusion, an acceptable number of subjects with acute coronary syndrome were identified in each class.

  9. De novo interstitial duplication of 15q11.2-q13.1 with complex maternal uniparental trisomy for the 15q11-q13 region in a patient with Prader-Willi syndrome.

    Science.gov (United States)

    Burrage, Lindsay C; Person, Richard E; Flores, Angela; Villanos, Maria Theresa M; Bi, Weimin; Wiszniewska, Joanna; Bacino, Carlos A

    2012-10-01

    Prader-Willi syndrome is caused by the lack of paternal contribution for the imprinted 15q11-q13 region that originates through a number of mechanisms such as paternal deletion of 15q11-q13, maternal uniparental disomy, or by an imprinting defect due to epimutations in the paternal imprinting center. In the present report, we describe a female patient with complex maternal uniparental trisomy for the 15q11-q13 Prader-Willi syndrome critical region due to a de novo interstitial duplication of 15q11-q13 region that is present in one of the maternal homologs. As a result, the patient has three maternally derived copies of the Prader-Willi syndrome critical region and absence of paternal 15 contribution and thus, presents with a Prader-Willi syndrome phenotype with risk for developing additional phenotypes (e.g., autism and psychiatric phenotypes) characteristic of maternally derived duplications of this region. We suggest that this is a rather unique mechanism leading to Prader-Willi syndrome that has not been previously reported.

  10. Clinical, Cytogenetic, and Biochemical Analyses of a Family with a t(3;13(q26.2;p11.2: Further Delineation of 3q Duplication Syndrome

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    M. Abreu-González

    2013-01-01

    Full Text Available Chromosomal abnormalities that result in genomic imbalances are a major cause of congenital and developmental anomalies. Partial duplication of chromosome 3q syndrome is a well-described condition, and the phenotypic manifestations include a characteristic facies, microcephaly, hirsutism, synophrys, broad nasal bridge, congenital heart disease, genitourinary disorders, and mental retardation. Approximately 60%–75% of cases are derived from a balanced translocation. We describe a family with a pure typical partial trisomy 3q syndrome derived from a maternal balanced translocation t(3;13(q26.2;p11.2. As the chromosomal rearrangement involves the short arm of an acrocentric chromosome, the phenotype corresponds to a pure trisomy 3q26.2-qter syndrome. There are 4 affected individuals and several carriers among three generations. The report of this family is relevant because there are few cases of pure duplication 3q syndrome reported, and the cases described here contribute to define the phenotype associated with the syndrome. Furthermore, we confirmed that the survival until adulthood is possible. This report also identified the presence of glycosaminoglycans in urine in this family, not related to the chromosomal abnormality or the phenotype.

  11. Prenatal diagnosis by isoenzymic differentiation of Treacher Collins' syndrome induced by retinoids in rats

    DEFF Research Database (Denmark)

    Granström, G; Kirkeby, S

    1990-01-01

    ear ossicles, short cochleas, defectively differentiated Meckel's cartilages, micrognathia, rudimentary malar bones, lateral facial clefts, fistulas and skin tags, all of which were similar to Treacher Collins' syndrome in man. The defects were accompanied by a pathological differentiation pattern...

  12. Differentiating nocturnal leg cramps and restless legs syndrome.

    Science.gov (United States)

    Rana, Abdul Qayyum; Khan, Fatima; Mosabbir, Abdullah; Ondo, William

    2014-07-01

    Leg pain and discomfort are common complaints in any primary physician's clinic. Two common causes of pain or discomfort in legs are nocturnal leg cramps (NLC) and restless leg syndrome (RLS). NLC present as painful and sudden contractions mostly in part of the calf. Diagnosis of NLC is mainly clinical and sometimes involves investigations to rule out other mimics. RLS is a condition characterized by the discomfort or urge to move the lower limbs, which occurs at rest or in the evening/night. The similarity of RLS and leg cramps poses the issue of errors in diagnosing and differentiating the two. In this paper we review the pathopysiology of each entity and their diagnosis as well as treatment. The two conditions are then compared to appreciate the differences and similarities. Finally, suggestions are recommended for complete assessment.

  13. Restless legs syndrome: demographics, presentation, and differential diagnosis.

    Science.gov (United States)

    Hening, Wayne; Allen, Richard P; Tenzer, Penny; Winkelman, John W

    2007-09-01

    Restless legs syndrome (RLS) is a sensorimotor disorder characterized by a distressing urge to move the legs and sometimes other parts of the body. Diagnosis is based on clinical features that may be easily remembered with the mnemonic URGE: Urge to move, Rest induced, Gets better with activity, and Evening and night accentuation. RLS is common, its prevalence increases with age, and women are more frequently affected. The course is chronic with often severe sleep disruption, including periodic leg movements. Differential diagnosis includes disorders of restlessness and leg discomfort. Primary RLS is familial and likely to be genetic. Important causes of secondary RLS are end-stage renal disease, pregnancy, and iron deficiency. Every patient should be checked for iron status with a serum ferritin measurement.

  14. Widespread DNA hypomethylation and differential gene expression in Turner syndrome

    Science.gov (United States)

    Trolle, Christian; Nielsen, Morten Muhlig; Skakkebæk, Anne; Lamy, Philippe; Vang, Søren; Hedegaard, Jakob; Nordentoft, Iver; Ørntoft, Torben Falck; Pedersen, Jakob Skou; Gravholt, Claus Højbjerg

    2016-01-01

    Adults with 45,X monosomy (Turner syndrome) reflect a surviving minority since more than 99% of fetuses with 45,X monosomy die in utero. In adulthood 45,X monosomy is associated with increased morbidity and mortality, although strikingly heterogeneous with some individuals left untouched while others suffer from cardiovascular disease, autoimmune disease and infertility. The present study investigates the leukocyte DNAmethylation profile by using the 450K-Illumina Infinium assay and the leukocyte RNA-expression profile in 45,X monosomy compared with karyotypically normal female and male controls. We present results illustrating that genome wide X-chromosome RNA-expression profile, autosomal DNA-methylation profile, and the X-chromosome methylation profile clearly distinguish Turner syndrome from controls. Our results reveal genome wide hypomethylation with most differentially methylated positions showing a medium level of methylation. Contrary to previous studies, applying a single loci specific analysis at well-defined DNA loci, our results indicate that the hypomethylation extend to repetitive elements. We describe novel candidate genes that could be involved in comorbidity in TS and explain congenital urinary malformations (PRKX), premature ovarian failure (KDM6A), and aortic aneurysm formation (ZFYVE9 and TIMP1). PMID:27687697

  15. Plant Genome Duplication Database.

    Science.gov (United States)

    Lee, Tae-Ho; Kim, Junah; Robertson, Jon S; Paterson, Andrew H

    2017-01-01

    Genome duplication, widespread in flowering plants, is a driving force in evolution. Genome alignments between/within genomes facilitate identification of homologous regions and individual genes to investigate evolutionary consequences of genome duplication. PGDD (the Plant Genome Duplication Database), a public web service database, provides intra- or interplant genome alignment information. At present, PGDD contains information for 47 plants whose genome sequences have been released. Here, we describe methods for identification and estimation of dates of genome duplication and speciation by functions of PGDD.The database is freely available at http://chibba.agtec.uga.edu/duplication/.

  16. Clinical effect analysis of ankylosing spondylitis treated by Chinese medical syndrome differentiation

    Institute of Scientific and Technical Information of China (English)

    冯兴华

    2013-01-01

    Objective To evaluate the curative effect and safety of Bushen Qiangji Decoction (BQD) and Qingre Qiangji Decoction (QQD) in treating ankylosing spondylitis (AS) patients,and to verify the clinical utility of AS syndrome differentiation and treatment scheme[Shen-deficiency induced stasis obstruction syndrome (SDISOS) and dampness-heat obstruction syndrome (DHOS) being two basic syndrome types,Shen invigorating blood activating method (SIBAM) and heat clearing dampness resolving meth-

  17. X-linked congenital ptosis and associated intellectual disability, short stature, microcephaly, cleft palate, digital and genital abnormalities define novel Xq25q26 duplication syndrome

    DEFF Research Database (Denmark)

    Møller, R S; Jensen, L R; Maas, S M

    2014-01-01

    Submicroscopic duplications along the long arm of the X-chromosome with known phenotypic consequences are relatively rare events. The clinical features resulting from such duplications are various, though they often include intellectual disability, microcephaly, short stature, hypotonia, hypogona...... suggested three critical regions with candidate genes (AIFM1, RAB33A, GPC3 and IGSF1) for the common phenotypes, including candidate loci for congenital bilateral ptosis, small head circumference, short stature, genital and digital defects....

  18. Parental Origin of Interstitial Duplications at 15q11.2-q13.3 in Schizophrenia and Neurodevelopmental Disorders

    Science.gov (United States)

    Isles, Anthony R.; Ingason, Andrés; Lowther, Chelsea; Gawlick, Micha; Stöber, Gerald; Potter, Harry; Georgieva, Lyudmila; Pizzo, Lucilla; Ozaki, Norio; Kushima, Itaru; Ikeda, Masashi; Iwata, Nakao; Levinson, Douglas F.; Gejman, Pablo V.; Shi, Jianxin; Sanders, Alan R.; Duan, Jubao; Sisodiya, Sanjay; Costain, Gregory; Degenhardt, Franziska; Giegling, Ina; Rujescu, Dan; Hreidarsson, Stefan J.; Saemundsen, Evald; Ahn, Joo Wook; Ogilvie, Caroline; Stefansson, Hreinn; Stefansson, Kari; O’Donovan, Michael C.; Owen, Michael J.; Bassett, Anne; Kirov, George

    2016-01-01

    Duplications at 15q11.2-q13.3 overlapping the Prader-Willi/Angelman syndrome (PWS/AS) region have been associated with developmental delay (DD), autism spectrum disorder (ASD) and schizophrenia (SZ). Due to presence of imprinted genes within the region, the parental origin of these duplications may be key to the pathogenicity. Duplications of maternal origin are associated with disease, whereas the pathogenicity of paternal ones is unclear. To clarify the role of maternal and paternal duplications, we conducted the largest and most detailed study to date of parental origin of 15q11.2-q13.3 interstitial duplications in DD, ASD and SZ cohorts. We show, for the first time, that paternal duplications lead to an increased risk of developing DD/ASD/multiple congenital anomalies (MCA), but do not appear to increase risk for SZ. The importance of the epigenetic status of 15q11.2-q13.3 duplications was further underlined by analysis of a number of families, in which the duplication was paternally derived in the mother, who was unaffected, whereas her offspring, who inherited a maternally derived duplication, suffered from psychotic illness. Interestingly, the most consistent clinical characteristics of SZ patients with 15q11.2-q13.3 duplications were learning or developmental problems, found in 76% of carriers. Despite their lower pathogenicity, paternal duplications are less frequent in the general population with a general population prevalence of 0.0033% compared to 0.0069% for maternal duplications. This may be due to lower fecundity of male carriers and differential survival of embryos, something echoed in the findings that both types of duplications are de novo in just over 50% of cases. Isodicentric chromosome 15 (idic15) or interstitial triplications were not observed in SZ patients or in controls. Overall, this study refines the distinct roles of maternal and paternal interstitial duplications at 15q11.2-q13.3, underlining the critical importance of maternally

  19. Parental Origin of Interstitial Duplications at 15q11.2-q13.3 in Schizophrenia and Neurodevelopmental Disorders.

    Directory of Open Access Journals (Sweden)

    Anthony R Isles

    2016-05-01

    Full Text Available Duplications at 15q11.2-q13.3 overlapping the Prader-Willi/Angelman syndrome (PWS/AS region have been associated with developmental delay (DD, autism spectrum disorder (ASD and schizophrenia (SZ. Due to presence of imprinted genes within the region, the parental origin of these duplications may be key to the pathogenicity. Duplications of maternal origin are associated with disease, whereas the pathogenicity of paternal ones is unclear. To clarify the role of maternal and paternal duplications, we conducted the largest and most detailed study to date of parental origin of 15q11.2-q13.3 interstitial duplications in DD, ASD and SZ cohorts. We show, for the first time, that paternal duplications lead to an increased risk of developing DD/ASD/multiple congenital anomalies (MCA, but do not appear to increase risk for SZ. The importance of the epigenetic status of 15q11.2-q13.3 duplications was further underlined by analysis of a number of families, in which the duplication was paternally derived in the mother, who was unaffected, whereas her offspring, who inherited a maternally derived duplication, suffered from psychotic illness. Interestingly, the most consistent clinical characteristics of SZ patients with 15q11.2-q13.3 duplications were learning or developmental problems, found in 76% of carriers. Despite their lower pathogenicity, paternal duplications are less frequent in the general population with a general population prevalence of 0.0033% compared to 0.0069% for maternal duplications. This may be due to lower fecundity of male carriers and differential survival of embryos, something echoed in the findings that both types of duplications are de novo in just over 50% of cases. Isodicentric chromosome 15 (idic15 or interstitial triplications were not observed in SZ patients or in controls. Overall, this study refines the distinct roles of maternal and paternal interstitial duplications at 15q11.2-q13.3, underlining the critical importance of

  20. The investigation and differential diagnosis of Asperger syndrome in adults.

    Science.gov (United States)

    Lehnhardt, Fritz-Georg; Gawronski, Astrid; Pfeiffer, Kathleen; Kockler, Hanna; Schilbach, Leonhard; Vogeley, Kai

    2013-11-08

    As a result of the increased public interest in autism spectrum disorders (ASD), certain core manifestations of ASD--impaired social interaction and communication, bizarre interests--are now commonly recognized as being typical of autism, not only in children, but in adults as well. More often than before, general practitioners, neurologists, and psychiatrists find themselves being asked whether a patient is suffering from previously unrecognized Asperger syndrome (AS). The prevalence of ASD is estimated at 1%, and the ratio of diagnosed to undiagnosed cases at about 3:2. Little is known about the diagnostic evaluation of AS in adulthood. We selectively searched the Medline database for pertinent literature, paying special attention to diagnostic manuals and to the guideline of the United Kingdom's National Institute for Health and Care Excellence (NICE). Centrally important aspects of the diagnosis of AS include an assessment of the patient's ability to assume the emotional perspectives of others, non-verbal modes of expression, repetitive behavior patterns, and childhood social behavioral history. The autism quotient (AQ) is now established as a simple but nonspecific screening test. Up to 70% of all affected adults have comorbid disturbances, most often depression and anxiety disorders. The differential diagnosis includes personality disorders, anxiety disorders, obsessive-compulsive disorder, and attention deficit-hyperactivity disorder. The diagnostic assessment should proceed in stepwise fashion, starting from simple screening in primary care and then moving on to evaluation of the suspected diagnosis by a mental health care specialist, followed by extensive further investigation in an outpatient clinic specifically devoted to patients with autism spectrum disorders. The diagnostic assessment of autism in adults requires knowledge of the core and accompanying manifestations of autism and of their differential diagnoses. More research is needed for the

  1. X-linked congenital ptosis and associated intellectual disability, short stature, microcephaly, cleft palate, digital and genital abnormalities define novel Xq25q26 duplication syndrome.

    Science.gov (United States)

    Møller, R S; Jensen, L R; Maas, S M; Filmus, J; Capurro, M; Hansen, C; Marcelis, C L M; Ravn, K; Andrieux, J; Mathieu, M; Kirchhoff, M; Rødningen, O K; de Leeuw, N; Yntema, H G; Froyen, G; Vandewalle, J; Ballon, K; Klopocki, E; Joss, S; Tolmie, J; Knegt, A C; Lund, A M; Hjalgrim, H; Kuss, A W; Tommerup, N; Ullmann, R; de Brouwer, A P M; Strømme, P; Kjaergaard, S; Tümer, Z; Kleefstra, T

    2014-05-01

    Submicroscopic duplications along the long arm of the X-chromosome with known phenotypic consequences are relatively rare events. The clinical features resulting from such duplications are various, though they often include intellectual disability, microcephaly, short stature, hypotonia, hypogonadism and feeding difficulties. Female carriers are often phenotypically normal or show a similar but milder phenotype, as in most cases the X-chromosome harbouring the duplication is subject to inactivation. Xq28, which includes MECP2 is the major locus for submicroscopic X-chromosome duplications, whereas duplications in Xq25 and Xq26 have been reported in only a few cases. Using genome-wide array platforms we identified overlapping interstitial Xq25q26 duplications ranging from 0.2 to 4.76 Mb in eight unrelated families with in total five affected males and seven affected females. All affected males shared a common phenotype with intrauterine- and postnatal growth retardation and feeding difficulties in childhood. Three had microcephaly and two out of five suffered from epilepsy. In addition, three males had a distinct facial appearance with congenital bilateral ptosis and large protruding ears and two of them showed a cleft palate. The affected females had various clinical symptoms similar to that of the males with congenital bilateral ptosis in three families as most remarkable feature. Comparison of the gene content of the individual duplications with the respective phenotypes suggested three critical regions with candidate genes (AIFM1, RAB33A, GPC3 and IGSF1) for the common phenotypes, including candidate loci for congenital bilateral ptosis, small head circumference, short stature, genital and digital defects.

  2. Restless legs syndrome: differential diagnosis and management with pramipexole

    Directory of Open Access Journals (Sweden)

    Francesca Brindani

    2009-06-01

    Full Text Available Francesca Brindani, Francesca Vitetta, Franco GemignaniDepartment of Neurosciences, University of Parma, ItalyAbstract: Restless legs syndrome (RLS is a condition characterized by discomfort at rest and urge to move focused on the legs. RLS may occur as an idiopathic, often hereditary condition (primary RLS, or in association with medical conditions (secondary RLS including iron deficiency, uremia, and polyneuropathy. Current understanding of the pathophysiology of RLS points to the involvement of three interrelated components: dopaminergic dysfunction, impaired iron homeostasis, and genetic mechanisms. The diagnosis of RLS is made according to the consensus criteria by a National Institutes of Health panel: 1 an urge to move the legs, usually accompanied by uncomfortable sensations; 2 beginning or worsening during rest; 3 relieved by movement; and 4 worse, or only occurring, in the evening or at night. The differential diagnosis of RLS aims to: 1 distinguish RLS from other disorders with RLS-like symptoms and 2 identify secondary forms, with investigation of underlying diseases. The treatment of RLS demands a clinical evaluation to rule out and cure causes of secondary RLS, including iron supplementation when deficient, and to eliminate the triggering factors. The presence of neuropathy should be especially investigated in nonhereditary, late-onset RLS, in view of a possible treatment of the underlying disease. The first line treatment for idiopathic RLS is represented by dopamine agonists, in particular nonergot-derived ropinirole and pramipexole, whereas ergot dopamine agonists (cabergoline and pergolide are no longer in first-line use given the risks of cardiac valvulopathy. Although no comparative trials have been published, a meta-analysis of pramipexole versus ropinirole suggests differences in efficacy and tolerability favoring pramipexole.Keywords: restless legs syndrome, pramipexole, dopamine, agonists, small fiber neuropathy

  3. Our experience with unusual gastrointestinal tract duplications in infants

    Directory of Open Access Journals (Sweden)

    Bilal Mirza

    2014-01-01

    Full Text Available Background: Classical duplications may present along any part of gastrointestinal tract (GIT from mouth to anus. Atypical or unusual rare varieties of GIT duplications may also occur, but with different anatomical features. Materials and Methods: We reviewed our 5-year record (February 2008-January 2013 to describe clinical profile of unusual GIT duplications in neonates and small infants. Results: Three patients with atypical variety of GIT duplications were managed in our department during this tenure. Two were females and one male. Age was ranged between 11 days and 2 months. All patients presented with massive abdominal distension causing respiratory embarrassment in two of them. In all patients, the pre-operative differential diagnoses also included GIT duplication cysts. Computerized tomography (CT scan showed single huge cyst in one and multiple cysts in two patients. In one patient the CT scan also depicted a thoracic cyst in relation to posterior mediastinum. At operation, one patient had colonic tubular duplication cyst along with another isolated duplication cyst, the second case had a tubular duplication cyst of ileum with its segmental dilatation, and in the third case two isolated duplications were found. Duplication cysts were excised along with mucosal stripping in one patient, cyst excision and intestinal resection and anastomosis in one patient, and only cysts excision in one. All patients did well post-operatively. Conclusion: We presented unusual GIT duplications. These duplications are managed on similar lines as classical duplications with good prognosis when dealt early.

  4. [Differential diagnosis of corticobasal syndrome (CBS) and its biomarkers].

    Science.gov (United States)

    Tokuda, Takahiko

    2013-01-01

    Corticobasal degeneration (CBD) was initially thought to represent a clinicopathological entity, but recent studies have shown its considerable clinicopathological heterogeneity. Thus, the constellation of the findings initially considered characteristic of CBD is now named "corticobasal syndrome" (CBS), while the term "CBD" is used for the histopathological disorder. Multiple phenotypes associated with CBD pathology and multiple diseases associated with CBS, the latter of which are called "CBD mimickers," make the correct diagnosis of these conditions on the basis of only clinical symptoms and signs difficult. Therefore, the development of specific biomarkers for diagnosing each causative disease of CBS is extremely important. Abnormal accumulations of the microtubule-associated tau protein are found in both neurons and glia, and CBD is thus considered one of the tauopathies. Although some studies have measured total and phosphorylated tau in the CSF of patients with CBS, their results are inconclusive. Disease-specific truncation and/or phosphorylation of tau protein and its fragments in the CSF would be a promising biomarker candidate; however, its effectiveness still needs to be confirmed by further studies. Progress in biomarker development to differentiate CBD from CBD mimickers has been slow, but it is essential to improve diagnostic accuracy and to develop disease-modifying therapies.

  5. DIFFERENTIATION SYNDROME IN PROMYELOCYTIC LEUKEMIA : CLINICAL PRESENTATION, PATHOGENESIS AND TREATMENT

    Directory of Open Access Journals (Sweden)

    Eduardo Magalhães Rego

    2011-10-01

    Full Text Available Differentiation syndrome (DS represents a life-threatening complication in patients with acute promyelocytic leukemia (APL undergoing induction therapy with all-trans retinoic acid (ATRA or arsenic trioxide (ATO. It affects about 20-25% of all patients and there are no definitive diagnostic criteria. Clinically, DS is characterized by weight gain, fever not attributable to infection, respiratory distress, cardiac involvement, hypotension, and/or acute renal failure. At the histological point of view, there is an extensive interstitial and intra-alveolar pulmonary infiltration by maturing myeloid cells, endothelial cell damage, intra-alveolar edema, inter-alveolar hemorrhage, and fibrinous exsudates. DS pathogenesis is not completely understood, but it is believed that an excessive inflammatory response is the main phenomenon involved, which results in increased production of chemokines and expression of adhesion molecules on APL cells. Due to the high morbidity and mortality associated with DS, its recognition and the prompt initiation of the treatment is of utmost importance. Dexamethasone is considered the mainstay of treatment of DS, and the recommended dose is 10 mg twice daily by intravenous route until resolution of DS. In severe cases (respiratory or acute renal failure it is recommended the discontinuation of ATRA or ATO until recovery.

  6. COMMENTS ON TREATMENT OF OBESITY BASED ON SYNDROME DIFFERENTIATION OF BODY FLUID

    Institute of Scientific and Technical Information of China (English)

    张彩荣; 郭丽霞; 李季; 符佳; 胡玲香

    2004-01-01

    Because of no exact name about obesity in traditional Chinese medicine, clinically there have no unified syndrome types about obesity. The present paper uses the original syndrome differentiation of body fluid and selects classical acupuncture and moxibustion prescriptions to treat obesity, which is conducive to further systematizing classical acupuncture and moxibustion prescriptions and providing sufficient basis for clinical popularization.

  7. [Exploration on syndrome differentiation standardization of Chinese medicine diagnosis and treatment].

    Science.gov (United States)

    Yu, Wen-ya; Lu, Ai-ping; Han, Xue-jie

    2011-10-01

    The syndrome differentiation standardization of Chinese medicine and treatment technologies is the premise of Chinese medicine's entry into the world. But its individualized diagnosis and therapeutic features are contrary to the specification of standardization. The achievement and existent problems in syndrome differentiation standardization of Chinese medicine and treatment technologies were summarized in this paper. The thinking ways and recommendations to solve were proposed as well.

  8. Duplication in DNA Sequences

    Science.gov (United States)

    Ito, Masami; Kari, Lila; Kincaid, Zachary; Seki, Shinnosuke

    The duplication and repeat-deletion operations are the basis of a formal language theoretic model of errors that can occur during DNA replication. During DNA replication, subsequences of a strand of DNA may be copied several times (resulting in duplications) or skipped (resulting in repeat-deletions). As formal language operations, iterated duplication and repeat-deletion of words and languages have been well studied in the literature. However, little is known about single-step duplications and repeat-deletions. In this paper, we investigate several properties of these operations, including closure properties of language families in the Chomsky hierarchy and equations involving these operations. We also make progress toward a characterization of regular languages that are generated by duplicating a regular language.

  9. Differential diagnosis of myelodysplastic syndrome and aplastic anemia using MRI

    Energy Technology Data Exchange (ETDEWEB)

    Jung, Seung Eun; Park, Jung Mi; Lee, Jae Mun; Kim, Ki Tae; Kim, Dong Wook; Kim, Chun Choo; Kim, Chun Yul; Shinn, Kyung Sub [Catholic University Medical College, Seoul (Korea, Republic of)

    1995-04-15

    To assess the patterns of myelodysplastic syndrome (MDS) and aplastic anemia (AA) on MRI of the spinal bone marrow and to find the differential points between the two groups. Fourteen patients with MDS (n=7) and AA (n=7) were studied using magnetic resonance imaging. Sagittal images from the lower thoracic and lumbar vertebral marrow were evaluated on T1-weighted and STIR images. Five distinct patterns of signal intensity of the T1-weighted and STIR images were classified. T1 and T2 relaxation times and T1 marrow/fat signal intensity ratio were measured and analyzed (t-test). The cellularity of bone marrow was evaluated on histologic slides. MDS showed homogeneously low signal intensity on T1WI and high signal intensity on STIR image, indicating hypercellular marrow, whereas AA showed relative high signal intensity on T1WI and low signal intensity on STIR image, representing fatty marrow. T1 and T2 relaxation time (T1 for MDS=750.26 msec {+-} 177.50, T1 for AA=413.21 msec {+-} 167.39 ({rho} < 0.000), T2 for MDS=91.86 msec {+-} 14.16, T2 for AA=81.44 msec {+-} 15.31 ({rho} < 0.001) and T1 marrow/fat signal intensity ratio (0.22 {+-} 0.048 in MDS, 0.30 {+-} 0.083 in AA ({rho} < 0.000) revealed statistically significant difference between the two groups. Although the marrow aspiration and needle biopsy are mandatory in hematologic disease for diagnosis, there are limited in assessing the change of total marrow mass. Therefore MRI of bone marrow might be useful in distinguishing MDS from AA because of its ability of representation of total marrow mass.

  10. Restless legs syndrome: differential diagnosis and management with pramipexole.

    Science.gov (United States)

    Brindani, Francesca; Vitetta, Francesca; Gemignani, Franco

    2009-01-01

    Restless legs syndrome (RLS) is a condition characterized by discomfort at rest and urge to move focused on the legs. RLS may occur as an idiopathic, often hereditary condition (primary RLS), or in association with medical conditions (secondary RLS) including iron deficiency, uremia, and polyneuropathy. Current understanding of the pathophysiology of RLS points to the involvement of three interrelated components: dopaminergic dysfunction, impaired iron homeostasis, and genetic mechanisms. The diagnosis of RLS is made according to the consensus criteria by a National Institutes of Health panel: 1) an urge to move the legs, usually accompanied by uncomfortable sensations; 2) beginning or worsening during rest; 3) relieved by movement; and 4) worse, or only occurring, in the evening or at night. The differential diagnosis of RLS aims to: 1) distinguish RLS from other disorders with RLS-like symptoms and 2) identify secondary forms, with investigation of underlying diseases. The treatment of RLS demands a clinical evaluation to rule out and cure causes of secondary RLS, including iron supplementation when deficient, and to eliminate the triggering factors. The presence of neuropathy should be especially investigated in nonhereditary, late-onset RLS, in view of a possible treatment of the underlying disease. The first line treatment for idiopathic RLS is represented by dopamine agonists, in particular nonergot-derived ropinirole and pramipexole, whereas ergot dopamine agonists (cabergoline and pergolide) are no longer in first-line use given the risks of cardiac valvulopathy. Although no comparative trials have been published, a meta-analysis of pramipexole versus ropinirole suggests differences in efficacy and tolerability favoring pramipexole.

  11. 17q12 deletion and duplication syndrome in Denmark-A clinical cohort of 38 patients and review of the literature

    DEFF Research Database (Denmark)

    Rasmussen, Maria; Vestergaard, Else Marie; Graakjaer, Jesper

    2016-01-01

    deletions and 26 phenotyped patients with 17q12 duplications. The total cohort includes 19 index patients and 19 family members. We also reviewed the literature in order to further improve the basis for the counseling. We emphasize that renal disease, learning disability, behavioral abnormalities, epilepsy......, and duodenal atresia. Delayed language development, learning disability, kidney involvement, and eye dysmorphism and strabismus were the most consistently shared features among patients with 17q12 deletion. Patients with 17q12 duplications were characterized by an extremely wide phenotypic spectrum, including...... a variable degree of learning disabilities, delayed language development, delayed motor milestones, and a broad range of psychiatric and neurological features. This patient group also included adults achieving an academic degree. Assessing index patients and non-index patients separately, our observations...

  12. Crh and Oprm1 mediate anxiety-related behavior and social approach in a mouse model of MECP2 duplication syndrome

    OpenAIRE

    Samaco, Rodney C; Mandel-Brehm, Caleigh; McGraw, Christopher M.; Shaw, Chad A.; McGill, Bryan E; Zoghbi, Huda Y.

    2012-01-01

    Genomic duplications spanning Xq28 are associated with a spectrum of phenotypes including anxiety and autism. The minimal region shared among affected individuals includes MECP2 and IRAK1, however, it is unclear which gene, when overexpressed, causes anxiety and social behavior deficits. We report that doubling MeCP2 levels causes heightened anxiety and autism-like features in mice, and alters the expression of genes that influence anxiety and social behavior, such as Crh and Oprm1. To test t...

  13. Molecular characterization and differential expression of two duplicated odorant receptor genes, AcerOr1 and AcerOr3, in Apis cerana cerana

    Indian Academy of Sciences (India)

    Huiting Zhao; Pengfei Gao; Haiyan Du; Weihua Ma; Songhao Tian; Yusuo Jiang

    2014-04-01

    Insects use olfaction to recognize a wide range of volatile cues, to locate food sources, mates, hosts and oviposition sites. These chemical volatiles are perceived by odorant receptors (ORs) expressed on the dendritic membrane of olfactory neurons, most of which are housed within the chemosensilla of antennae. Most insect ORs are tandemly arrayed on chromosomes and some of them are formed by gene duplication. Here, we identified a pair of duplicated Or genes, AcerOr1 and AcerOr3, from the antennae of the Asian honeybee, Apis cerana cerana, and reported their molecular characterization and temporal expression profiles. The results showed that these two genes shared high similarity both in sequence and the gene structure. Quantitative real-time PCR analysis of temporal expression pattern indicated that in drones the expression pattern of these two genes were very similar. The transcripts expressed weakly in larvae and pupae, then increased gradually in adults. In workers, the expression level of AcerOr1 changed more drastically and expressed higher than that of AcerOr3. However, both reached their highest expression level in one-day-old adults. In addition, the expression profiles between different sexes revealed that AcerOr3 appear to be expressed biased in male antennae. These results suggest that AcerOr1 may perceive odours of floral scents, while AcerOr3 may detect odours critical to male behaviour, such as the queen substance cues.

  14. Colonic duplication in an adult mimicking a tumor of pancreas

    Institute of Scientific and Technical Information of China (English)

    2008-01-01

    Duplications of the alimentary tract are uncommon congenital malformations that can present diagnostic difficulties.We report a rare case of a cystic colonic duplication in a female adult.Preoperative investigations were suggestive of pancreatic tumor.The diagnosis was established based on the histopathological examination of the resected specimen.We concluded that,though uncommon,intestinal duplication should be considered in differential diagnosis of abdominal mass.

  15. [Lemierre's syndrome as differential diagnosis of lung cancer].

    Science.gov (United States)

    Reinholdt Jensen, Jacob; Weinreich, Ulla Møller

    2012-05-28

    Lemierre's syndrome is a disseminated infection which is usually caused by Fusobacterium necrophorum. An oropharyngeal infection progresses to a septic thrombophlebitis of the internal jugular vein and later metastatic infections throughout the body occur. We present a clinical case in which a patient, initially presenting with symptoms characteristic of pulmonary cancer, turned out to have a rare variant of Lemierre's syndrome caused by Fusobacterium nucleatum.

  16. Obesity Differentially Affects Phenotypes of Polycystic Ovary Syndrome

    OpenAIRE

    Carlos Moran; Monica Arriaga; Gustavo Rodriguez; Segundo Moran

    2012-01-01

    Obesity or overweight affect most of patients with polycystic ovary syndrome (PCOS). Phenotypes are the clinical characteristics produced by the interaction of heredity and environment in a disease or syndrome. Phenotypes of PCOS have been described on the presence of clinical hyperandrogenism, oligoovulation and polycystic ovaries. The insulin resistance is present in the majority of patients with obesity and/or PCOS and it is more frequent and of greater magnitude in obese than in non obese...

  17. A specific mutation in the distant sonic hedgehog (SHH) cis-regulator (ZRS) causes Werner mesomelic syndrome (WMS) while complete ZRS duplications underlie Haas type polysyndactyly and preaxial polydactyly (PPD) with or without triphalangeal thumb.

    Science.gov (United States)

    Wieczorek, Dagmar; Pawlik, Barbara; Li, Yun; Akarsu, Nurten A; Caliebe, Almuth; May, Klaus J W; Schweiger, Bernd; Vargas, Fernando R; Balci, Sevim; Gillessen-Kaesbach, Gabriele; Wollnik, Bernd

    2010-01-01

    Werner mesomelic syndrome (WMS) is an autosomal dominant disorder with unknown molecular etiology characterized by hypo- or aplasia of the tibiae in addition to the preaxial polydactyly (PPD) of the hands and feet and/or five-fingered hand with absence of thumbs. We show that point mutations of a specific nucleotide within the sonic hedgehog (SHH) regulatory region (ZRS) cause WMS. In a previously unpublished WMS family, we identified the causative G>A transition at position 404 of the ZRS, and in six affected family members of a second WMS family we found a 404G>C mutation of the ZRS. The 404G>A ZRS mutation is known as the "Cuban mutation" of PPD type II (PPD2). Interestingly, the index patient of that family had tibial hypoplasia as well. These data provide the first evidence that WMS is caused by a specific ZRS mutation, which leads to strong ectopic SHH expression. In contrast, we show that complete duplications of the ZRS region lead to type Haas polysyndactyly or triphalangeal thumb-polysyndactyly syndrome, but do not affect lower limb development. We suggest the term "ZRS-associated syndromes" and a clinical subclassification for the continuum of limb malformations caused by different molecular alterations of the ZRS.

  18. [ZHANG Tangfa's characteristics of acupuncture academic ideology and clinical treatment of syndrome differentiation].

    Science.gov (United States)

    Zhang, Hongxing

    2015-10-01

    Through collecting and sorting of works, literature and medical cases regarding professor ZHANG Tangfa, it is found that his acupuncture academic ideology and clinical treatment of syndrome differentiation can be summarized as: tracing the source and paying attention to basic theory, especially the meridian theory and conception vessel and governor vessel; focusing on acupuncture manipulation and emphasizing acupuncture basic skills; highly valuing treating spirit, acquiring and maintaining needling sensation; underlining "three differentiations" that is consisted of syndrome differentiation, disease differentiation and meridian differentiation to guide the clinical prescriptions of acupoints; exploring and ingenious use of scalp acupuncture; being concerned on research of difficult and complicated diseases; advocating comparative studies to optimize the clinical treatment plan; proposing the combination of Chinese and western medicine, including diagnosis, treatment and basic theory, to improve the clinical therapeutic effects of acupuncture.

  19. Differential expression of ribosomal proteins in myelodysplastic syndromes.

    Science.gov (United States)

    Rinker, Elizabeth B; Dueber, Julie C; Qualtieri, Julianne; Tedesco, Jason; Erdogan, Begum; Bosompem, Amma; Kim, Annette S

    2016-02-01

    Aberrations of ribosomal biogenesis have been implicated in several congenital bone marrow failure syndromes, such as Diamond-Blackfan anaemia, Shwachman-Diamond syndrome and Dyskeratosis Congenita. Recent studies have identified haploinsufficiency of RPS14 in the acquired bone marrow disease isolated 5q minus syndrome, a subtype of myelodysplastic syndromes (MDS). However, the expression of various proteins comprising the ribosomal subunits and other proteins enzymatically involved in the synthesis of the ribosome has not been explored in non-5q minus MDS. Furthermore, differences in the effects of these expression alterations among myeloid, erythroid and megakaryocyte lineages have not been well elucidated. We examined the expression of several proteins related to ribosomal biogenesis in bone marrow biopsy specimens from patients with MDS (5q minus patients excluded) and controls with no known myeloid disease. Specifically, we found that there is overexpression of RPS24, DKC1 and SBDS in MDS. This overexpression is in contrast to the haploinsufficiency identified in the congenital bone marrow failure syndromes and in acquired 5q minus MDS. Potential mechanisms for these differences and aetiology for these findings in MDS are discussed.

  20. Esophageal duplication and congenital esophageal stenosis.

    Science.gov (United States)

    Trappey, A Francois; Hirose, Shinjiro

    2017-04-01

    Esophageal duplication and congenital esophageal stenosis (CES) may represent diseases with common embryologic etiologies, namely, faulty tracheoesophageal separation and differentiation. Here, we will re-enforce definitions for these diseases as well as review their embryology, diagnosis, and treatment. Copyright © 2017. Published by Elsevier Inc.

  1. Differential diagnostics of different nosological forms of the temporomandibular joint pain dysfunction syndrome

    OpenAIRE

    2014-01-01

    Research objective: to carry out differential diagnostics of various nosological forms of a temporal and temporomandibular joint pain dysfunction syndrome. Material and methods. On clinical base of orthopedic odontology chair of SamSMU inspection of 244 patients with temporomandibular joint pain dysfunction syndrome was performed. Diagnostics was carried out according to the special card of inspection which was developed on orthopedic odontology chair of SamSMU and included subjective, object...

  2. Meckel-Gruber syndrome: pathologic manifestations, minimal diagnostic criteria, and differential diagnosis.

    Science.gov (United States)

    Alexiev, Borislav A; Lin, Xiaoqing; Sun, Chen-Chih; Brenner, David S

    2006-08-01

    This article provides an overview of the major pathologic manifestations of Meckel-Gruber syndrome, current knowledge about its pathogenesis, minimal diagnostic criteria, and differential diagnosis. Typical sonographic findings (occipital encephalocele, postaxial polydactyly, and cystic enlargement of the kidneys) allow for diagnosis of most cases before the 14th week of gestation, but the pathologist may encounter clinically unsuspected or atypical cases that require morphologic confirmation. In these cases, a meticulous autopsy is necessary to establish the diagnosis of Meckel-Gruber syndrome.

  3. Differential DNA methylation patterns of polycystic ovarian syndrome in whole blood of Chinese women

    DEFF Research Database (Denmark)

    Li, Shuxia; Zhu, Dongyi; Duan, Hongmei

    2017-01-01

    As a universally common endocrinopathy in women of reproductive age, the polycystic ovarian syndrome is characterized by composite clinical phenotypes reflecting the contributions of reproductive impact of ovarian dysfunction and metabolic abnormalities with widely varying symptoms resulting from...... interference of the genome with the environment through integrative biological mechanisms including epigenetics. We have performed a genome-wide DNA methylation analysis on polycystic ovarian syndrome and identified a substantial number of genomic sites differentially methylated in the whole blood of PCOS...

  4. Unique Theory of Mind Differentiation in Children with Autism and Asperger Syndrome

    Directory of Open Access Journals (Sweden)

    Michele Tine

    2012-01-01

    Full Text Available This study was designed to determine if ToM abilities of children with autism and Asperger syndrome differentiate into Intrapersonal ToM and Social ToM. A battery of Social and Intrapersonal ToM tasks was administered to 39 children with autism and 34 children with Asperger syndrome. For both groups of children, ToM differentiated and Intrapersonal ToM was stronger than Social ToM. This asymmetry was greater for children with autism, whose Social ToM was especially weak. These results support a differentiated, as opposed to integrated, ToM. Moreover, the findings provide a more thorough understanding of the cognitive abilities associated with autism and Asperger syndrome.

  5. Unique Theory of Mind Differentiation in Children with Autism and Asperger Syndrome

    Science.gov (United States)

    Tine, Michele; Lucariello, Joan

    2012-01-01

    This study was designed to determine if ToM abilities of children with autism and Asperger syndrome differentiate into Intrapersonal ToM and Social ToM. A battery of Social and Intrapersonal ToM tasks was administered to 39 children with autism and 34 children with Asperger syndrome. For both groups of children, ToM differentiated and Intrapersonal ToM was stronger than Social ToM. This asymmetry was greater for children with autism, whose Social ToM was especially weak. These results support a differentiated, as opposed to integrated, ToM. Moreover, the findings provide a more thorough understanding of the cognitive abilities associated with autism and Asperger syndrome. PMID:22934174

  6. Unique theory of mind differentiation in children with autism and asperger syndrome.

    Science.gov (United States)

    Tine, Michele; Lucariello, Joan

    2012-01-01

    This study was designed to determine if ToM abilities of children with autism and Asperger syndrome differentiate into Intrapersonal ToM and Social ToM. A battery of Social and Intrapersonal ToM tasks was administered to 39 children with autism and 34 children with Asperger syndrome. For both groups of children, ToM differentiated and Intrapersonal ToM was stronger than Social ToM. This asymmetry was greater for children with autism, whose Social ToM was especially weak. These results support a differentiated, as opposed to integrated, ToM. Moreover, the findings provide a more thorough understanding of the cognitive abilities associated with autism and Asperger syndrome.

  7. Unique Theory of Mind Differentiation in Children with Autism and Asperger Syndrome

    OpenAIRE

    Michele Tine; Joan Lucariello

    2012-01-01

    This study was designed to determine if ToM abilities of children with autism and Asperger syndrome differentiate into Intrapersonal ToM and Social ToM. A battery of Social and Intrapersonal ToM tasks was administered to 39 children with autism and 34 children with Asperger syndrome. For both groups of children, ToM differentiated and Intrapersonal ToM was stronger than Social ToM. This asymmetry was greater for children with autism, whose Social ToM was especially weak. These results support...

  8. MECP2 duplication: possible cause of severe phenotype in females.

    Science.gov (United States)

    Scott Schwoerer, Jessica; Laffin, Jennifer; Haun, Joanne; Raca, Gordana; Friez, Michael J; Giampietro, Philip F

    2014-04-01

    MECP2 duplication syndrome, originally described in 2005, is an X-linked neurodevelopmental disorder comprising infantile hypotonia, severe to profound intellectual disability, autism or autistic-like features, spasticity, along with a variety of additional features that are not always clinically apparent. The syndrome is due to a duplication (or triplication) of the gene methyl CpG binding protein 2 (MECP2). To date, the disorder has been described almost exclusively in males. Female carriers of the duplication are thought to have no or mild phenotypic features. Recently, a phenotype for females began emerging. We describe a family with ∼290 kb duplication of Xq28 region that includes the MECP2 gene where the proposita and affected family members are female. Twin sisters, presumed identical, presented early with developmental delay, and seizures. Evaluation of the proposita at 25 years of age included microarray comparative genomic hybridization (aCGH) which revealed the MECP2 gene duplication. The same duplication was found in the proposita's sister, who is more severely affected, and the proband's mother who has mild intellectual disability and depression. X-chromosome inactivation studies showed significant skewing in the mother, but was uninformative in the twin sisters. We propose that the MECP2 duplication caused for the phenotype of the proband and her sister. These findings support evidence for varied severity in some females with MECP2 duplications.

  9. Abnormal in vitro thymocyte differentiation in a patient with severe combined immunodeficiency-Nezelof`s syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Knutsen, A.P.; Wall, D.; Mueller, K.R.; Bouhasin, J.D. [Pediatric Research Institute, St. Louis, MO (United States)

    1996-05-01

    An in vitro coculture model system of CD34+ stem cells and allogenic cultured thymic epithelia fragments was used to evaluate thymocyte differentiation in a 9-month-old child of Amish descent with Nezelof syndrome. Though the patient`s stem cells differentiate to acquire normal expression of CD2 and CD7, later steps of maturation were abnormal. There was detectable but reduced expression of CD3 and CD4 phenotypes. CD44+ expression, however, was markedly reduced. CD44 is an adhesion molecule, interacting with the matrix ligands hyaluronan and fibronectin, and is expressed early in thymocyte differentiation and subsequently in mature T cells. It is hypothesized that abnormal expression of CD44 in a variant of severe combined immunodeficiency, Nezelof`s syndrome, interferes with normal thymocyte and thymic epithelial interaction, which leads to abnormal thymocyte differentiation. 35 refs., 2 figs., 3 tabs.

  10. Cloning and Characterization of a Differentially Expressed Phenylalanine Ammonialyase Gene (liPAL) After Genome Duplication from Tetraploid Isatis indigotica Fort.

    Institute of Scientific and Technical Information of China (English)

    Bei-Bei Lu; Zhen Du; Ru-Xian Ding; Lei Zhang; Xiao-Jing Yu; Cheng-Hong Liu; Wan-Sheng Chen

    2006-01-01

    Phenylpropanoid derivatives are a complex class of secondary metabolites that have many important roles in plants during normal growth and in responses to environmental stress. Phenylalanine ammonialyase(PAL) catalyzes the first step in the biosynthesis of phenylpropanoids. In the present study, we isolated a novel phenylalanine ammonialyase gene (designated as liPAL) from tetraploid Isatis indigotica Fort. by rapid amplification of cDNA ends (RACE), which was a cultivar from the diploid plant by genome duplication.The full-length cDNA of liPAL was 2 530-bp long with an open reading frame (ORF) of 2 178 bp encoding a polypeptide of 725 amino acid residues. Analysis of liPAL genomic DNA revealed that it was structurally similar to other plant PAL genes, with a single intron at a conserved position, and a long highly conserved second exon. Semi-quantitative RT-PCR revealed that the liPAL expression in roots and leaves from a tetraploid sample was higher than that in diploid progenitor, whereas expression of liPAL in stems was almost the same as each other. Furthermore, the highest expression of liPAL in tetraploid plant was found in roots, which was found in stems in diploid plants. Further expression analysis revealed that gibberellin (GA3), abscisic acid (ABA), methyl jasmonate (MeJA) and cold treatments could up-regulate the liPAL transcription in tetraploid plants. All our findings suggest that liPAL participates not only in the defense/stress responsive pathways, but also probably in the polyploidy evolution of I. indigotica.

  11. Differential Diagnosis and Management of Incomplete Locked-In Syndrome after Traumatic Brain Injury

    OpenAIRE

    Lauren Surdyke; Jennifer Fernandez; Hannah Foster; Pamela Spigel

    2017-01-01

    Locked-in syndrome (LIS) is a rare diagnosis in which patients present with quadriplegia, lower cranial nerve paralysis, and mutism. It is clinically difficult to differentiate from other similarly presenting diagnoses with no standard approach for assessing such poorly responsive patients. The purpose of this case is to highlight the clinical differential diagnosis process and outcomes of a patient with LIS during acute inpatient rehabilitation. A 32-year-old female was admitted following tr...

  12. A Duplicate Construction Experiment.

    Science.gov (United States)

    Bridgeman, Brent

    This experiment was designed to assess the ability of item writers to construct truly parallel tests based on a "duplicate-construction experiment" in which Cronbach argues that if the universe description and sampling are ideally refined, the two independently constructed tests will be entirely equivalent, and that within the limits of item…

  13. Near Duplicate Document Detection Survey

    Directory of Open Access Journals (Sweden)

    Bassma S. Alsulami

    2012-04-01

    Full Text Available Search engines are the major breakthrough on the web for retrieving the information. But List of retrieved documents contains a high percentage of duplicated and near document result. So there is the need to improve the performance of search results. Some of current search engine use data filtering algorithm which can eliminate duplicate and near duplicate documents to save the users’ time and effort. The identification of similar or near-duplicate pairs in a large collection is a significant problem with wide-spread applications. In this paper survey present an up-to-date review of the existing literature in duplicate and near duplicate detection in Web

  14. Syndrome Differentiation Analysis on Mars500 Data of Traditional Chinese Medicine.

    Science.gov (United States)

    Li, Yong-Zhi; Li, Guo-Zheng; Gao, Jian-Yi; Zhang, Zhi-Feng; Fan, Quan-Chun; Xu, Jia-Tuo; Bai, Gui-E; Chen, Kai-Xian; Shi, Hong-Zhi; Sun, Sheng; Liu, Yu; Shao, Feng-Feng; Mi, Tao; Jia, Xin-Hong; Zhao, Shuang; Chen, Jia-Chang; Liu, Jun-Lian; Guo, Yu-Meng; Tu, Li Ping

    2015-01-01

    Mars500 study was a psychological and physiological isolation experiment conducted by Russia, the European Space Agency, and China, in preparation for an unspecified future manned spaceflight to the planet Mars. Its intention was to yield valuable psychological and medical data on the effects of the planned long-term deep space mission. In this paper, we present data mining methods to mine medical data collected from the crew consisting of six spaceman volunteers. The synthesis of the four diagnostic methods of TCM, inspection, listening, inquiry, and palpation, is used in our syndrome differentiation. We adopt statistics method to describe the syndrome factor regular pattern of spaceman volunteers. Hybrid optimization based multilabel (HOML) is used as feature selection method and multilabel k-nearest neighbors (ML-KNN) is applied. According to the syndrome factor statistical result, we find that qi deficiency is a base syndrome pattern throughout the entire experiment process and, at the same time, there are different associated syndromes such as liver depression, spleen deficiency, dampness stagnancy, and yin deficiency, due to differences of individual situation. With feature selection, we screen out ten key factors which are essential to syndrome differentiation in TCM. The average precision of multilabel classification model reaches 80%.

  15. Syndrome Differentiation Analysis on Mars500 Data of Traditional Chinese Medicine

    Directory of Open Access Journals (Sweden)

    Yong-Zhi Li

    2015-01-01

    Full Text Available Mars500 study was a psychological and physiological isolation experiment conducted by Russia, the European Space Agency, and China, in preparation for an unspecified future manned spaceflight to the planet Mars. Its intention was to yield valuable psychological and medical data on the effects of the planned long-term deep space mission. In this paper, we present data mining methods to mine medical data collected from the crew consisting of six spaceman volunteers. The synthesis of the four diagnostic methods of TCM, inspection, listening, inquiry, and palpation, is used in our syndrome differentiation. We adopt statistics method to describe the syndrome factor regular pattern of spaceman volunteers. Hybrid optimization based multilabel (HOML is used as feature selection method and multilabel k-nearest neighbors (ML-KNN is applied. According to the syndrome factor statistical result, we find that qi deficiency is a base syndrome pattern throughout the entire experiment process and, at the same time, there are different associated syndromes such as liver depression, spleen deficiency, dampness stagnancy, and yin deficiency, due to differences of individual situation. With feature selection, we screen out ten key factors which are essential to syndrome differentiation in TCM. The average precision of multilabel classification model reaches 80%.

  16. Food-induced contact urticaria syndrome (CUS) in atopic dermatitis: Reproducibility of repeated and duplicate testing with a skin provocation test,the skin application food test (SAFT)

    NARCIS (Netherlands)

    A.P. Oranje (Arnold); D. van Gysel (Dirk); P.G.H. Mulder (Paul); P.H. Dieges

    1994-01-01

    textabstractIgE-mediated contact urticaria syndrome (CUS) is one of the manifestations of allergy in childhood atopic dermatitis (AD). Allergens such as foods and animal products penetrate the skin easily. They can then cause urticarial reactions in sensitized individuals. A provocation test system

  17. Children with High-Functioning Autism and Asperger's Syndrome: Can We Differentiate Their Cognitive Profiles?

    Science.gov (United States)

    Planche, Pascale; Lemonnier, Eric

    2012-01-01

    The aim of this study was to investigate whether children with high-functioning autism (HFA) and Asperger's syndrome (AS) can be differentiated from each other and from typically developing children on their cognitive profiles. The present study included a total of 45 participants: children with autism (high-functioning autism or Asperger's…

  18. Children with High-Functioning Autism and Asperger's Syndrome: Can We Differentiate Their Cognitive Profiles?

    Science.gov (United States)

    Planche, Pascale; Lemonnier, Eric

    2012-01-01

    The aim of this study was to investigate whether children with high-functioning autism (HFA) and Asperger's syndrome (AS) can be differentiated from each other and from typically developing children on their cognitive profiles. The present study included a total of 45 participants: children with autism (high-functioning autism or Asperger's…

  19. Reticulated acanthoma with sebaceous differentiation: another sebaceous neoplasm associated with Muir-Torre syndrome?

    Science.gov (United States)

    Shon, Wonwoo; Wolz, Michael M; Newman, Catherine C; Bridges, Alina G

    2014-11-01

    Reticulated acanthoma with sebaceous differentiation (RASD) represents a rare benign cutaneous epithelial neoplasm with sebaceous differentiation. There has been much speculation about the relationship between RASD and Muir-Torre syndrome (MTS). We report a 53 year-old man who presented with RASD in addition to a prior history of sebaceous adenomas. Immunohistochemically, the tumour cells in the RASD and sebaceous adenomas showed a significantly reduced MSH6 protein expression, whereas there was no loss of MLH1, MSH2 and PMS2. This benign neoplasm, which can be mistaken for various other cutaneous lesions with sebaceous differentiation, deserves wider recognition for its possible association with MTS.

  20. Obesity Differentially Affects Phenotypes of Polycystic Ovary Syndrome

    Directory of Open Access Journals (Sweden)

    Carlos Moran

    2012-01-01

    Full Text Available Obesity or overweight affect most of patients with polycystic ovary syndrome (PCOS. Phenotypes are the clinical characteristics produced by the interaction of heredity and environment in a disease or syndrome. Phenotypes of PCOS have been described on the presence of clinical hyperandrogenism, oligoovulation and polycystic ovaries. The insulin resistance is present in the majority of patients with obesity and/or PCOS and it is more frequent and of greater magnitude in obese than in non obese PCOS patients. Levels of sexual hormone binding globulin are decreased, and levels of free androgens are increased in obese PCOS patients. Weight loss treatment is important for overweight or obese PCOS patients, but not necessary for normal weight PCOS patients, who only need to avoid increasing their body weight. Obesity decreases or delays several infertility treatments. The differences in the hormonal and metabolic profile, as well as the different focus and response to treatment between obese and non obese PCOS patients suggest that obesity has to be considered as a characteristic for classification of PCOS phenotypes.

  1. Somatostatinoma syndrome: a challenging differential diagnosis among pancreatic tumors

    Directory of Open Access Journals (Sweden)

    Paula Martinez Vianna

    2013-03-01

    Full Text Available Among the neuroendocrine neoplasia, the pancreatic somatostatin-producing tumors are very rare. Usually functional, these tumors produce the somatostatinoma syndrome, which encompasses diabetes mellitus, diarrhea/steatorrhoea, and cholelithiasis. Other symptoms may include dyspepsia, weight loss, anemia, and hypochlorhydria. All theses symptoms are explained by the inhibitory actions of the somatostatin released by tumoral cells originated from pancreatic delta cells or endocrine cells of the digestive tract. The diagnosis is easy to overlook since these symptoms are commonly observed in other more common syndromes. Besides the clinical features, diagnosis is based on serum determination of somatostatin, and imaging exams, such as ultrasound, computer tomography and positron emission tomography. Pathologic examination is characterized by the positivity of immunohistochemical reaction for synaptophysin, chromogranin, and somatostatin. These tumors can be classified according to tumor size, mitotic index, neural or vascular invasion, and distant metastases. The authors describe the case of a 61-year-old female patient who sought medical care because of a 6-month history of watery diarrhea, weight loss, and depression. She was diagnosed with diabetes mellitus 3 years ago. Imaging examination revealed a tumoral mass of 4 cm in its longest axis in the topography of the head of the pancreas and calculous cholecistopathy. The patient’s clinical status was unfavorable for a surgical approach. She died after 20 days of hospitalization. The definitive diagnosis was achieved with the autopsy findings, which disclosed a pancreatic somatostatinoma.

  2. SAPHO syndrome in the differential diagnosis of metastasis.

    Science.gov (United States)

    Berenguer Francés, Miguel Ángel; Lafaurie Acevedo, Alejandro; Tormo Ferrero, Vicente; Cardenal Macia, Rafael; Andreu Martínez, Francisco José

    2016-01-01

    SAPHO syndrome was proposed in the late 80s in order to group different osteoarticular manifestations with specific radiological findings such as the hyperostosis of the front part of the chest wall. Prevalence, etiology and pathogenesis of the disease are unknown, while diagnosis is made both clinically and by the specific gammagraphic image of «bull horn» in the sternoclavicular joint. The following case of a 64-year-old woman diagnosed with infiltrating ductal carcinoma of the right breast pT1N0Mx is reported. When studying the extent of the disease, a gammagraphic image of diffuse blast injury in the sterna manubrium was evidenced, which allowed the suspicion of Paget's disease or metastatic injury. Study was completed with a chest CT in which manubrium sclerosis was evidenced, suggesting metástasis. Res ults of the studies pointed out SAPHO syndrome as the most likely diagnostic option. The low tumor stage of the patient prompted the idea of possible alternative diagnoses. A deeper knowledge of this clinical condition may be crucial to avoid mistakes when classifying a subject in more advanced tumor stages, and consequently, to prevent the use of more aggressive chemotherapy and radiotherapy treatments.

  3. Patterns of retinal damage facilitate differential diagnosis between Susac syndrome and MS.

    Directory of Open Access Journals (Sweden)

    Alexander U Brandt

    Full Text Available Susac syndrome, a rare but probably underdiagnosed combination of encephalopathy, hearing loss, and visual deficits due to branch retinal artery occlusion of unknown aetiology has to be considered as differential diagnosis in various conditions. Particularly, differentiation from multiple sclerosis is often challenging since both clinical presentation and diagnostic findings may overlap. Optical coherence tomography is a powerful and easy to perform diagnostic tool to analyse the morphological integrity of retinal structures and is increasingly established to depict characteristic patterns of retinal pathology in multiple sclerosis. Against this background we hypothesised that differential patterns of retinal pathology facilitate a reliable differentiation between Susac syndrome and multiple sclerosis. In this multicenter cross-sectional observational study optical coherence tomography was performed in nine patients with a definite diagnosis of Susac syndrome. Data were compared with age-, sex-, and disease duration-matched relapsing remitting multiple sclerosis patients with and without a history of optic neuritis, and with healthy controls. Using generalised estimating equation models, Susac patients showed a significant reduction in either or both retinal nerve fibre layer thickness and total macular volume in comparison to both healthy controls and relapsing remitting multiple sclerosis patients. However, in contrast to the multiple sclerosis patients this reduction was not distributed over the entire scanning area but showed a distinct sectorial loss especially in the macular measurements. We therefore conclude that patients with Susac syndrome show distinct abnormalities in optical coherence tomography in comparison to multiple sclerosis patients. These findings recommend optical coherence tomography as a promising tool for differentiating Susac syndrome from MS.

  4. 眩晕辨治体会%Experience of Syndrome Differentiation and Treatment of Vertigo

    Institute of Scientific and Technical Information of China (English)

    李波; 李彬

    2012-01-01

    目的:探讨中医辨证论治眩晕的临床体会.方法:总结中医对眩晕病因病机的认识和中医辨证论治的方法.结果:眩晕常见的病理因素为风、火、痰、虚、瘀,病位在脑,其病变脏腑与肝、脾、肾三脏相关.本病多属本虚标实,以肝肾阴虚、气血不足为本,风火痰瘀为标,但亦有实中带虚者,临床治疗应在辨病的基础上辨证施治,注重辨脏腑虚实,随证治之.结论:中医辨证论治眩晕的临床疗效显著.%Objective;To explore the clinical experience of TCM syndrome differentiating and treating vertigo. Methods:TCM understandings of etiology,pathogenesis and methods of TCM syndrome differentiation and treatment of vertigo were summarized. Results: Wind, fire, phlegm, deficiency and stasis were the common pathogenic factors of vertigo and the disease location was in brain. The diseased zang and fu-organs involved with the liver,spleen and kidney. Most pathogenesis mechanisms of vertigo were deficiency in root and ex-cess in superficial level. Yin deficiency of liver and kidney was the root, while the wind, fire, phlegm and stasis were the superficial pathogenesis. But it also had type of excess complicated with deficiency. Clinical treatment should make syndrome differentiation based on disease differentiation, pay more attention to the deficiency or excess of zang and fu-organs, and treat disease on the basis of syn-drome. Conclusion: TCM has noticeable curative effects on syndrome differentiating and treating vertigo.

  5. Gastric, pancreatic, and ureteric duplication

    Directory of Open Access Journals (Sweden)

    Chattopadhyay Anindya

    2010-01-01

    Full Text Available We report a case of an 8-month-old, asymptomatic child who was incidentally detected to have two cystic structures in the abdomen. Surgical exploration revealed a gastric and pancreatic duplication cyst along with a blind-ending duplication of the right ureter. Excision of the duplications was relatively straightforward, and the child made an uneventful recovery. This constellation of duplications has not been reported before.

  6. Pitt–Hopkins Syndrome and Differential Diagnosis: A Molecular and Clinical Challenge

    Science.gov (United States)

    Marangi, Giuseppe; Zollino, Marcella

    2015-01-01

    Pitt–Hopkins syndrome is an emerging neurodevelopmental disorder caused by haploinsufficiency of the TCF4 gene on chromosome 18q21. It is characterized by severe intellectual disability, seizures, microcephaly, constipation and a distinctive facial gestalt. Although the overlapping phenotype of microcephaly, epilepsy, absent speech and constipation represents a challenge for the differential diagnosis with Angelman syndrome, Rett syndrome and Mowat–Wilson syndrome, distinctive of Pitt–Hopkins syndrome are breathing abnormalities, that can occur as either hyperventilation episodes or apnea crises, and a typical facial dysmorphism, including bitemporal narrowing, squared forehead, deep-set eyes, peculiar nose conformation, with broad nasal bridge, down-turned nasal tip and flaring nostrils, typical shape of the mouth, with a tented and M shaped upper lip, and widely spaced teeth. The occurrence of these signs in variable association of uncoordinated movements, microcephaly of postnatal onset, eye abnormalities, constipation, epilepsy and subtle brain abnormalities is highly predictive of a TCF4 mutation, making it possible to plan a genetic test of choice among severe encephalopathies. Angelman syndrome represents the nosological condition closest to Pitt–Hopkins syndrome. PMID:27617128

  7. Acute promyelocytic leukemia with JAK2 V617F and severe differentiation syndrome

    Directory of Open Access Journals (Sweden)

    Theodore P. Braun

    2015-01-01

    Full Text Available Myeloproliferative neoplasms transformed into AML usually have a poor prognosis. We report a case of essential thrombocythemia with myelofibrosis that transformed into acute promyelocytic leukemia (APL with both the t(15;17 translocation as well as the JAK2 V617F mutation. Clinically, this case was notable for severe differentiation syndrome despite treatment with high-dose dexamethasone. Cytokine production by differentiating APL cells was not directly abrogated by JAK2 inhibitors in vitro, suggesting that JAK2 V617F enhances the hyperinflammatory response downstream of cytokines. JAK1/2 inhibitors may therefore dampen the inflammatory cascade downstream of cytokine production, similar to glucocorticoids, and have a role in treating severe differentiation syndrome.

  8. ON DIFFERENTIAL DIAGNOSIS BETWEEN AUTISTIC DISORDER AND ASPERGER’S SYNDROME

    Directory of Open Access Journals (Sweden)

    Stefan Todorov

    2012-11-01

    Full Text Available The differential diagnosis between Autistic disorder (AD and Asperger’s syndrome (AS in most cases is quite difficult since most of the symptoms are clinically undistinguished. Several factors complicate the diagnosis of AS- an autism spectrum disorder (ASD. It is considered by some authors to be simply a milder version of autistic disorder. Problems in diagnosis include disagreement among diagnostic criteria, controversy over the distinction between AS and other ASD forms or even whether AS exists as a separate syndrome, and over- and under-diagnosis. Our paper is based on the diagnostic and differential diagnostic criteria of DSM-IV, ICD-10 and our clinical experience.In the process of diagnosis and differential diagnosis we, naturally, illustrate and discuss the similarities and differences between the two disorders.

  9. Differential diagnostics of different nosological forms of the temporomandibular joint pain dysfunction syndrome

    Directory of Open Access Journals (Sweden)

    Kameneva L.A.

    2014-09-01

    Full Text Available Research objective: to carry out differential diagnostics of various nosological forms of a temporal and temporomandibular joint pain dysfunction syndrome. Material and methods. On clinical base of orthopedic odontology chair of SamSMU inspection of 244 patients with temporomandibular joint pain dysfunction syndrome was performed. Diagnostics was carried out according to the special card of inspection which was developed on orthopedic odontology chair of SamSMU and included subjective, objective and special methods of research. As a result of research it is taped: 71 — an occlusal-articulation dysfunctional syndrome, 44 — a neuromuscular dysfunctional syndrome, 76 patients have a hardly set dislocation of intra joint disk and 53 — a habitual dislocation and a subluxation of a temporomandibular joint. We used Yu.A. Petrosov's classification as it displays most precisely the processes happening at pathology of the intra joint relations. Conclusion: On the basis of the obtained data the table of differential diagnostics of various nosological forms of temporomandibular joint pain dysfunction syndrome has been made.

  10. Differential Diagnosis Tool for Parkinsonian Syndrome Using Multiple Structural Brain Measures

    Directory of Open Access Journals (Sweden)

    Miho Ota

    2013-01-01

    Full Text Available Clinical differentiation of parkinsonian syndromes such as the Parkinson variant of multiple system atrophy (MSA-P and cerebellar subtype (MSA-C from Parkinson's disease is difficult in the early stage of the disease. To identify the correlative pattern of brain changes for differentiating parkinsonian syndromes, we applied discriminant analysis techniques by magnetic resonance imaging (MRI. T1-weighted volume data and diffusion tensor images were obtained by MRI in eighteen patients with MSA-C, 12 patients with MSA-P, 21 patients with Parkinson’s disease, and 21 healthy controls. They were evaluated using voxel-based morphometry and tract-based spatial statistics, respectively. Discriminant functions derived by step wise methods resulted in correct classification rates of 0.89. When differentiating these diseases with the use of three independent variables together, the correct classification rate was the same as that obtained with step wise methods. These findings support the view that each parkinsonian syndrome has structural deviations in multiple brain areas and that a combination of structural brain measures can help to distinguish parkinsonian syndromes.

  11. An Introduction to Duplicate Detection

    CERN Document Server

    Nauman, Felix

    2010-01-01

    With the ever increasing volume of data, data quality problems abound. Multiple, yet different representations of the same real-world objects in data, duplicates, are one of the most intriguing data quality problems. The effects of such duplicates are detrimental; for instance, bank customers can obtain duplicate identities, inventory levels are monitored incorrectly, catalogs are mailed multiple times to the same household, etc. Automatically detecting duplicates is difficult: First, duplicate representations are usually not identical but slightly differ in their values. Second, in principle

  12. [Elements of a clinical differential diagnosis between Asperger syndrome and the schizoid/paranoid personality].

    Science.gov (United States)

    Mottron, Laurent; Soulières, Isabelle; Ménard, Edith

    2007-01-01

    Individuals with Asperger syndrome may, when exposed to hostility (e.g. bullying at school or at work), develop hostile ideas against their social environment, sometimes leading to aggression. These ideas and acts may be confounded with those arising from a persecutory state in schizoid or schizotypal personality, or even schizophrenia. These entities can be confounded with Asperger syndrome due to their permanent nature, and the presence of atypical social and emotional behaviours. This paper proposes cognitive (Wechsler profile), developmental (course of hostile behaviours), discursive (qualitative features of discourse reporting hostile thoughts), which may contribute to differential diagnosis in the presence of hostile thoughts and behaviours. Consequences for case management are also reported.

  13. Clinical research on disciplinarian and character of treatment of zang-fu in syndrome differentiation on insomnia

    Institute of Scientific and Technical Information of China (English)

    凌丽; 薛金伟; 东贵荣

    2005-01-01

    Objective To investigate the therapeutic effect of insomnia with zang-fu in syndrome differentiation. Methods Seventy patients with insomnia according to the diagnostic sequence were randomly divided into two groups, the treatment group and the control group. Two groups received the therapeutic methods of acupuncture in syndrome differentiation and general acupuncture separately. After two courses of treatment and one month's follow-up, therapeutic effect was evaluated through statistical analysis. Resulds The therapeutic effects of the treatment group and the control group have significant differences which have statistical significance. Conclusion Zang-fu in syndrome differentiation may enhance the clinical therapeutic effect of insomnia.

  14. Targeted High Performance Liquid Chromatography Tandem Mass Spectrometry-based Metabolomics differentiates metabolic syndrome from obesity.

    Science.gov (United States)

    Zhong, Fanyi; Xu, Mengyang; Bruno, Richard S; Ballard, Kevin D; Zhu, Jiangjiang

    2017-04-01

    Both obesity and the metabolic syndrome are risk factors for type 2 diabetes and cardiovascular disease. Identification of novel biomarkers are needed to distinguish metabolic syndrome from equally obese individuals in order to direct them to early interventions that reduce their risk of developing further health problems. We utilized mass spectrometry-based targeted metabolic profiling of 221 metabolites to evaluate the associations between metabolite profiles and established metabolic syndrome criteria (i.e. elevated waist circumference, hypertension, elevated fasting glucose, elevated triglycerides, and low high-density lipoprotein cholesterol) in plasma samples from obese men ( n = 29; BMI = 35.5 ± 5.2 kg/m(2)) and women ( n = 40; 34.9 ± 6.7 kg/m(2)), of which 26 met the criteria for metabolic syndrome (17 men and 9 women). Compared to obese individuals without metabolic syndrome, univariate statistical analysis and partial least squares discriminant analysis showed that a specific group of metabolites from multiple metabolic pathways (i.e. purine metabolism, valine, leucine and isoleucine degradation, and tryptophan metabolism) were associated with the presence of metabolic syndrome. Receiver operating characteristic curves generated based on the PLS-DA models showed excellent areas under the curve (0.85 and 0.96, for metabolites only model and enhanced metabolites model, respectively), high specificities (0.86 and 0.93), and good sensitivities (0.71 and 0.91). Moreover, principal component analysis revealed that metabolic profiles can be used to further differentiate metabolic syndrome with 3 versus 4-5 metabolic syndrome criteria. Collectively, these findings support targeted metabolomics approaches to distinguish metabolic syndrome from obesity alone, and to stratify metabolic syndrome status based on the number of criteria met. Impact statement We utilized mass spectrometry-based targeted metabolic profiling of 221 metabolites to

  15. [Restless legs syndrome and nocturnal leg pain : Differential diagnosis and treatment].

    Science.gov (United States)

    Hornyak, M; Stiasny-Kolster, K; Evers, S; Happe, S

    2011-09-01

    Pain in the legs belongs to the five most frequent regional pain symptoms. Restless legs syndrome (RLS) presents a particular differential diagnosis for pain in the legs, which is characterized by a nocturnal urge to move the legs often associated with painful sensations in the legs. It is one of the most common neurological disorders and probably the leading cause of nocturnal pain in the legs. In this overview, the diagnosis and therapy of RLS as well as aspects of pain therapy of the disorder are presented. In addition, the differential diagnoses for exclusion of other specific causes of nocturnal pain in the legs are discussed.

  16. Characterization of the interferon genes in homozygous rainbow trout reveals two novel genes, alternate splicing and differential regulation of duplicated genes.

    Science.gov (United States)

    Purcell, Maureen K; Laing, Kerry J; Woodson, James C; Thorgaard, Gary H; Hansen, John D

    2009-02-01

    The genes encoding the type I and type II interferons (IFNs) have previously been identified in rainbow trout and their proteins partially characterized. These previous studies reported a single type II IFN (rtIFN-gamma) and three rainbow trout type I IFN genes that are classified into either group I (rtIFN1, rtIFN2) or group II (rtIFN3). In this present study, we report the identification of a novel IFN-gamma gene (rtIFN-gamma2) and a novel type I group II IFN (rtIFN4) in homozygous rainbow trout and predict that additional IFN genes or pseudogenes exist in the rainbow trout genome. Additionally, we provide evidence that short and long forms of rtIFN1 are actively and differentially transcribed in homozygous trout, and likely arose due to alternate splicing of the first exon. Quantitative reverse transcriptase PCR (qRT-PCR) assays were developed to systematically profile all of the rainbow trout IFN transcripts, with high specificity at an individual gene level, in naïve fish and after stimulation with virus or viral-related molecules. Cloned PCR products were used to ensure the specificity of the qRT-PCR assays and as absolute standards to assess transcript abundance of each gene. All IFN genes were modulated in response to Infectious hematopoietic necrosis virus (IHNV), a DNA vaccine based on the IHNV glycoprotein, and poly I:C. The most inducible of the type I IFN genes, by all stimuli tested, were rtIFN3 and the short transcript form of rtIFN1. Gene expression of rtIFN-gamma1 and rtIFN-gamma2 was highly up-regulated by IHNV infection and DNA vaccination but rtIFN-gamma2 was induced to a greater magnitude. The specificity of the qRT-PCR assays reported here will be useful for future studies aimed at identifying which cells produce IFNs at early time points after infection.

  17. Characterization of the interferon genes in homozygous rainbow trout reveals two novel genes, alternate splicing and differential regulation of duplicated genes

    Science.gov (United States)

    Purcell, M.K.; Laing, K.J.; Woodson, J.C.; Thorgaard, G.H.; Hansen, J.D.

    2009-01-01

    The genes encoding the type I and type II interferons (IFNs) have previously been identified in rainbow trout and their proteins partially characterized. These previous studies reported a single type II IFN (rtIFN-??) and three rainbow trout type I IFN genes that are classified into either group I (rtIFN1, rtIFN2) or group II (rtIFN3). In this present study, we report the identification of a novel IFN-?? gene (rtIFN-??2) and a novel type I group II IFN (rtIFN4) in homozygous rainbow trout and predict that additional IFN genes or pseudogenes exist in the rainbow trout genome. Additionally, we provide evidence that short and long forms of rtIFN1 are actively and differentially transcribed in homozygous trout, and likely arose due to alternate splicing of the first exon. Quantitative reverse transcriptase PCR (qRT-PCR) assays were developed to systematically profile all of the rainbow trout IFN transcripts, with high specificity at an individual gene level, in na??ve fish and after stimulation with virus or viral-related molecules. Cloned PCR products were used to ensure the specificity of the qRT-PCR assays and as absolute standards to assess transcript abundance of each gene. All IFN genes were modulated in response to Infectious hematopoietic necrosis virus (IHNV), a DNA vaccine based on the IHNV glycoprotein, and poly I:C. The most inducible of the type I IFN genes, by all stimuli tested, were rtIFN3 and the short transcript form of rtIFN1. Gene expression of rtIFN-??1 and rtIFN-??2 was highly up-regulated by IHNV infection and DNA vaccination but rtIFN-??2 was induced to a greater magnitude. The specificity of the qRT-PCR assays reported here will be useful for future studies aimed at identifying which cells produce IFNs at early time points after infection. ?? 2008 Elsevier Ltd.

  18. Differentiation of Burnout Syndrome by Profession and Job: Gazi Burnout Inventory

    OpenAIRE

    2009-01-01

    Defined as the situation individuals undergo in the face of stress, burnout syndrome appears to be a handicap not only conveying the feeling of isolation towards a specific job or profession but diminishing the productivity of individual in profession-related settings as well. This study sets out to develop and design an attitude scale in order to explore the differentiation of burnout of individuals in terms of job and profession concepts. In order to measure professional and job burnout, a ...

  19. The differential diagnosis of Huntington's disease-like syndromes: 'red flags' for the clinician.

    Science.gov (United States)

    Martino, Davide; Stamelou, Maria; Bhatia, Kailash P

    2013-06-01

    A growing number of progressive heredodegenerative conditions mimic the presentation of Huntington's disease (HD). Differentiating among these HD-like syndromes is necessary when a patient with a combination of movement disorders, cognitive decline, behavioural abnormalities and progressive disease course proves negative to the genetic testing for HD causative mutations, that is, IT15 gene trinucleotide-repeat expansion. The differential diagnosis of HD-like syndromes is complex and may lead to unnecessary and costly investigations. We propose here a guide to this differential diagnosis focusing on a limited number of clinical features ('red flags') that can be identified through accurate clinical examination, collection of historical data and a few routine ancillary investigations. These features include the ethnic background of the patient, the involvement of the facio-bucco-lingual and cervical district by the movement disorder, the co-occurrence of cerebellar features and seizures, the presence of peculiar gait patterns and eye movement abnormalities, and an atypical progression of illness. Additional help may derive from the cognitive-behavioural presentation of the patient, as well as by a restricted number of ancillary investigations, mainly MRI and routine blood tests. These red flags should be constantly updated as the phenotypic characterisation and identification of more reliable diagnostic markers for HD-like syndromes progress over the following years.

  20. Differential diagnosis of cervical nerve compression syndrome of the external intervertebral foramen

    Institute of Scientific and Technical Information of China (English)

    WANG Jinwu; NI Weifeng; LI Qi; XU Jianguang; ZHU Haibo; ZHAO Binghui; GUO Shangchun; ZENG Bingfang

    2007-01-01

    The aim of the present research is to study the mechanism of cervical nerve compression syndrome of the external intervertebral foramen and its difierential diagnosis with cervical spondylosis.Diagnostic treatment with muscle relaxant,vasodilator,neurotrophic medicine and celecoxib (COX)-2 inhibitor were performed in 20 patients with cervical nerve compression syndrome of the external intervertebral foramen and 20 patients with cervical spondylosis confirmed by operation.Diagnostic local block therapy was performed additionally in cases showing little effect after diagnostic treatment.All the patients were followed up postoperatively for more than one year.Fifteen cases with cervical nerve compression syndrome of the external intervertebral foramen were healed by the diagnostic treatment.The other five cases had a short-term remission and there was no recurrence after diagnostic local block therapy.Diagnostic treatment led to short-term alleviation of the symptom in 20 cases with cervical spondylosis confirmed by operation,the results of which was far from satisfactory and operation was undertaken finally in all the 20 cases.The etiology of cervical nerve compression syndrome of the extemal intervertebral foramen lies in the compression of the cervical plexus,brachial plexus and cervical dorsal rami by the tendinous decussating fibers of the scalenus anticus,medius,minimus and the posterior muscles of the neck.Diagnostic treatment was propitious to differentiate cervical nerve compression syndrome of the external intervertebral foramen from cervical spondylosis.

  1. Perfusion SPECT studies with mapping of Brodmann areas in differentiating Alzheimer's disease from frontotemporal degeneration syndromes.

    Science.gov (United States)

    Valotassiou, Varvara; Papatriantafyllou, John; Sifakis, Nikolaos; Tzavara, Chara; Tsougos, Ioannis; Kapsalaki, Eftychia; Hadjigeorgiou, George; Georgoulias, Panagiotis

    2012-12-01

    The aim of this study was to evaluate the contribution of brain perfusion single-photon emission computed tomography (SPECT) studies with mapping of Brodmann areas (BAs) in the differential diagnosis between Alzheimer's disease (AD) and frontotemporal degeneration (FTLD) syndromes. Thirty-nine patients with AD and 73 patients with FTLD syndromes [behavioural variant FTLD (bvFTLD); language variant FTLD (lvFTLD), including semantic dementia (SD) and progressive nonfluent aphasia (PNFA); and corticobasal degeneration (CBD)/progressive supranuclear palsy (PSP) syndromes] underwent brain perfusion SPECT. The NeuroGam software was used for the semiquantitative evaluation of perfusion in BAs of the left (L) and right (R) hemispheres. Compared with those in AD patients, BAs with statistically significant hypoperfusion were found in the prefrontal, orbitofrontal and cingulated cortices and Broca's areas of FTLD and bvFTLD patients; in the temporal and prefrontal cortices and Broca's areas of lvFTLD patients; in the left temporal gyrus of SD patients; in premotor and supplementary motor, prefrontal, orbitofrontal, temporal and anterior cingulated cortices and Broca's areas of PNFA patients; and in the prefrontal, temporal, posterior cingulated and primary and secondary visual cortices of CBD/PSP patients. BA 46R could differentiate AD patients from FTLD and bvFTLD patients; 21L and 25L were found to be independent predictors for lvFTLD in comparison with AD, and 25R, 21L and 23R could differentiate AD patients from PNFA, SD and CBD/PSP patients, respectively. Brain perfusion SPECT with BA mapping in AD and FTLD patients could improve the definition of brain areas that are specifically implicated in these disorders, resulting in a more accurate differential diagnosis.

  2. The duplication 17p13.3 phenotype

    DEFF Research Database (Denmark)

    Curry, Cynthia J; Rosenfeld, Jill A; Grant, Erica

    2013-01-01

    additional patients from 21 families to further delineate the clinical, neurological, behavioral, and brain imaging findings. We found a highly diverse phenotype with inter- and intrafamilial variability, especially in cognitive development. The most specific phenotype occurred in individuals with large....... Older patients were often overweight. Three variant phenotypes included cleft lip/palate (CLP), split hand/foot with long bone deficiency (SHFLD), and a connective tissue phenotype resembling Marfan syndrome. The duplications in patients with clefts appear to disrupt ABR, while the SHFLD phenotype...... was associated with duplication of BHLHA9 as noted in two recent reports. The connective tissue phenotype did not have a convincing critical region. Our experience with this large cohort expands knowledge of this diverse duplication syndrome....

  3. Sex differential association of dermatomyositis with Sjögren syndrome

    Science.gov (United States)

    Tseng, Chia-Chun; Chang, Shun-Jen; Tsai, Wen-Chan; Ou, Tsan-Teng; Wu, Cheng-Chin; Sung, Wan-Yu; Hsieh, Ming-Chia; Yen, Jeng-Hsien

    2017-01-01

    BACKGROUND: Although dermatomyositis and Sjögren syndrome share serologic autoantibodies and genetic polymorphisms, population data about the incidence of Sjögren syndrome in patients with dermatomyositis is unavailable. We performed a nationwide cohort study to explore the potential relation between dermatomyositis and Sjögren syndrome and, if an association exists, to elucidate whether it varies by sex. METHODS: We identified all patients with newly diagnosed dermatomyositis from the Registry of Catastrophic Illness Database in Taiwan between Jan. 1, 1998, and Dec. 31, 2011. Each patient was matched to, at most, 5 control patients from the National Health Insurance Research Database by age, sex and entry date. Cox regression was used to calculate the hazard ratio (HR) and 95% confidence interval (CI) of Sjögren syndrome after adjusting for age, sex, rheumatoid arthritis, systemic lupus erythematosus and systemic sclerosis. RESULTS: A total of 1602 patients with dermatomyositis and 7981 control patients were enrolled in the study. There was a positive association of having Sjögren syndrome among patients with dermatomyositis after adjusting for age, sex, rheumatoid arthritis, systemic lupus erythematosus and systemic sclerosis (HR 2.67, 95% CI 2.01–3.54). The association was more pronounced in the male cohort (HR 2.69, 95% CI 1.19–6.09). INTERPRETATION: We found a sex differential association of Sjögren syndrome among patients with dermatomyositis independent of age and concomitant autoimmune disease. Further studies are required to determine the clinical importance of this association for both outcomes and therapeutic options. PMID:28246264

  4. Should spinocerebellar ataxias be included in the differential diagnosis for Huntington's diseases-like syndromes?

    Science.gov (United States)

    Pedroso, José Luiz; de Freitas, Maria Eliza Thomaz; Albuquerque, Marcus Vinicius Cristino; Saraiva-Pereira, Maria Luiza; Jardim, Laura Bannach; Barsottini, Orlando G P

    2014-12-15

    In this article, we describe three patients with different spinocerebellar ataxia (SCA) subtypes presenting with unusual movement disorders predominantly characterized by choreoathetosis, which, together with their autosomal dominant pattern of inheritance, resembled the Huntington-like syndromes. From a large SCA cohort, we have observed chorea in 1/35 SCA2, 1/112 SCA3/MJD, and 1/30 SCA7 patients. Twenty-eight patients with SCA1, 11 patients with SCA6, and 3 patients with SCA10 were also evaluated, and none of them presented chorea. We provide a brief report of the three cases, with a video demonstrating chorea. Although a debate regarding the frequency of chorea in SCA patients is a fact, its occurrence, together with the autosomal dominant pattern of inheritance, clearly imposes SCA in the differentials of Huntington-like syndromes. There is some debate about what to include in a list of Huntington-like disorders, with several review articles about Huntington-like syndromes not including SCA in the differential diagnosis, except for SCA17. We believe that SCAs-at least SCA1, SCA2, SCA3/MJD, SCA7 and DRPLA-should be thought in the diagnostic workout of at least the atypical cases, such as those presented in this report.

  5. Modified Calgary score in differential diagnosis between cardiac syncope and postural orthostatic tachycardia syndrome-associated syncope in children.

    Science.gov (United States)

    Yang, Jinyan; Zhu, Lulu; Chen, Stella; Li, Xueying; Zhang, Qingyou; Zhang, Fengwen; Chen, Li; Tang, Chaoshu; Du, Junbao; Jin, Hongfang

    2013-06-01

    The present study was designed to analyse the usefulness of a modified Calgary score system during differential diagnosis between cardiac syncope and postural orthostatic tachycardia syndrome-associated syncope through a large sample sized clinical investigation. The study included 213 children, including 101 boys and 112 girls, with cardiac syncope or postural orthostatic tachycardia syndrome-associated syncope in the age group of 2-19 years (mean 11.8 ± 2.9 years). A modified Calgary score was created, which was analysed to predict differential diagnoses between cardiac syncope and postural orthostatic tachycardia syndrome-associated syncope using a receiver operating characteristic curve. The median of modified Calgary scores for cardiac syncope was -5.0, which significantly differed from that of postural orthostatic tachycardia syndrome (0.0; p postural orthostatic tachycardia syndrome-associated syncope in the clinic.

  6. Treating Excessively Slow Responding of a Young Man with Asperger Syndrome Using Differential Reinforcement of Short Response Latencies

    Science.gov (United States)

    Tiger, Jeffrey H.; Bouxsein, Kelly J.; Fisher, Wayne W.

    2007-01-01

    Fjellstedt and Sulzer-Azaroff (1973) used differential reinforcement of short latencies to decrease a child's latency to comply with instructions. We replicated this contingency with a young man diagnosed with Asperger syndrome across two tasks (question answering and math problem solving). We added a differential reinforcement contingency to…

  7. Brain MR Contribution to the Differential Diagnosis of Parkinsonian Syndromes: An Update

    Science.gov (United States)

    De Blasi, Roberto; Grasso, Daniela; Savica, Rodolfo

    2016-01-01

    Brain magnetic resonance (MR) represents a useful and feasible tool for the differential diagnosis of Parkinson's disease. Conventional MR may reveal secondary forms of parkinsonism and may show peculiar brain alterations of atypical parkinsonian syndromes. Furthermore, advanced MR techniques, such as morphometric-volumetric analyses, diffusion-weighted imaging, diffusion tensor imaging, tractography, proton MR spectroscopy, and iron-content sensitive imaging, have been used to obtain quantitative parameters useful to increase the diagnostic accuracy. Currently, many MR studies have provided both qualitative and quantitative findings, reflecting the underlying neuropathological pattern of the different degenerative parkinsonian syndromes. Although the variability in the methods and results across the studies limits the conclusion about which technique is the best, specific radiologic phenotypes may be identified. Qualitative/quantitative MR changes in the substantia nigra do not discriminate between different parkinsonisms. In the absence of extranigral abnormalities, the diagnosis of PD is more probable, whereas basal ganglia changes (mainly in the putamen) suggest the diagnosis of an atypical parkinsonian syndrome. In this context, changes in pons, middle cerebellar peduncles, and cerebellum suggest the diagnosis of MSA, in midbrain and superior cerebellar peduncles the diagnosis of PSP, and in whole cerebral hemispheres (mainly in frontoparietal cortex with asymmetric distribution) the diagnosis of Corticobasal Syndrome. PMID:27774334

  8. The syndrome of hemophagocytic lymphohistiocytosis in primary immunodeficiencies: implications for differential diagnosis and pathogenesis.

    Science.gov (United States)

    Bode, Sebastian Fn; Ammann, Sandra; Al-Herz, Waleed; Bataneant, Mihaela; Dvorak, Christopher C; Gehring, Stephan; Gennery, Andrew; Gilmour, Kimberly C; Gonzalez-Granado, Luis I; Groß-Wieltsch, Ute; Ifversen, Marianne; Lingman-Framme, Jenny; Matthes-Martin, Susanne; Mesters, Rolf; Meyts, Isabelle; van Montfrans, Joris M; Pachlopnik Schmid, Jana; Pai, Sung-Yun; Soler-Palacin, Pere; Schuermann, Uta; Schuster, Volker; Seidel, Markus G; Speckmann, Carsten; Stepensky, Polina; Sykora, Karl-Walter; Tesi, Bianca; Vraetz, Thomas; Waruiru, Catherine; Bryceson, Yenan T; Moshous, Despina; Lehmberg, Kai; Jordan, Michael B; Ehl, Stephan

    2015-07-01

    Hemophagocytic lymphohistiocytosis is a hyperinflammatory syndrome defined by clinical and laboratory criteria. Current criteria were created to identify patients with familial hemophagocytic lmyphohistiocytosis in immediate need of immunosuppressive therapy. However, these criteria also identify patients with infection-associated hemophagocytic inflammatory states lacking genetic defects typically predisposing to hemophagocytic lymphohistiocytosis. These patients include those with primary immunodeficiencies, in whom the pathogenesis of the inflammatory syndrome may be distinctive and aggressive immunosuppression is contraindicated. To better characterize hemophagocytic inflammation associated with immunodeficiencies, we combined an international survey with a literature search and identified 63 patients with primary immunodeficiencies other than cytotoxicity defects or X-linked lymphoproliferative disorders, presenting with conditions fulfilling current criteria for hemophagocytic lymphohistiocytosis. Twelve patients had severe combined immunodeficiency with immunodeficiencies; (ii) this syndrome can develop despite severe deficiency of T and NK cells, implying that the pathophysiology is distinct and not appropriately described as "lympho"-histiocytosis in these patients; and (iii) current criteria for hemophagocytoc lymphohistiocytosis are insufficient to differentiate hemophagocytic inflammatory syndromes with different pathogeneses. This is important because of implications for therapy, in particular for protocols targeting T cells.

  9. Brain MR Contribution to the Differential Diagnosis of Parkinsonian Syndromes: An Update

    Directory of Open Access Journals (Sweden)

    Giovanni Rizzo

    2016-01-01

    Full Text Available Brain magnetic resonance (MR represents a useful and feasible tool for the differential diagnosis of Parkinson’s disease. Conventional MR may reveal secondary forms of parkinsonism and may show peculiar brain alterations of atypical parkinsonian syndromes. Furthermore, advanced MR techniques, such as morphometric-volumetric analyses, diffusion-weighted imaging, diffusion tensor imaging, tractography, proton MR spectroscopy, and iron-content sensitive imaging, have been used to obtain quantitative parameters useful to increase the diagnostic accuracy. Currently, many MR studies have provided both qualitative and quantitative findings, reflecting the underlying neuropathological pattern of the different degenerative parkinsonian syndromes. Although the variability in the methods and results across the studies limits the conclusion about which technique is the best, specific radiologic phenotypes may be identified. Qualitative/quantitative MR changes in the substantia nigra do not discriminate between different parkinsonisms. In the absence of extranigral abnormalities, the diagnosis of PD is more probable, whereas basal ganglia changes (mainly in the putamen suggest the diagnosis of an atypical parkinsonian syndrome. In this context, changes in pons, middle cerebellar peduncles, and cerebellum suggest the diagnosis of MSA, in midbrain and superior cerebellar peduncles the diagnosis of PSP, and in whole cerebral hemispheres (mainly in frontoparietal cortex with asymmetric distribution the diagnosis of Corticobasal Syndrome.

  10. Clinical tests for differentiating between patients with and without patellofemoral pain syndrome

    Directory of Open Access Journals (Sweden)

    Konstantinos Papadopoulos, MSc

    2014-06-01

    Full Text Available Patellofemoral pain syndrome (PFPS is a very common knee condition with various aetiologies. Because of the nebulous factors of the syndrome, physiotherapists often find it difficult to assess and treat these patients. The aim of this study was to identify the clinical assessment tool that can differentiate PFPS patients from patients with other lower limb conditions. Fifty-two patients from the National Health System (26 with PFPS and 26 with other lower limb conditions took part in this study. They underwent a series of strength, flexibility, and stress tests. Their pain levels were also recorded. The results showed that among the various clinical tests, only the hip flexion component of the Thomas test was able to differentiate between the two groups. In addition, the stress test showed that the PFPS group could not recover their gluteal muscle strength in the same way the group with the other lower limb conditions did. The Lower Extremity Functional Scale was found to be more able to differentiate between the two groups than the Anterior Knee Pain Scale. This study has shown that it is difficult to find specific clinical tests to diagnose PFPS. More research is needed in this important area.

  11. [Clinical application of moving cupping therapy based on skin reaction observation and syndrome differentiation].

    Science.gov (United States)

    Deng, Xiao-Lan; Chen, Bo; Chen, Ze-Lin

    2014-12-01

    The diagnostic evidence on clinical diseases and theoretic basis of moving cupping therapy were ex- plored in the paper. By the observation of the local reaction, such as skin appearance and color, the affected location, duration of sickness and nature of disease were judged. Different moving cupping methods were selected for different disorders. It was discovered that the property of syndromes should be recognized by the palpation on skin and muscle in the moving cupping therapy so that the pathogenesis and treating principle could be carefully determined. The moving cupping therapy is the important component of body surface therapy. Skin reaction observation and syndrome differentiation is the essential guidance of the moving cupping therapy.

  12. Differentiating Aging Among Adults With Down Syndrome and Comorbid Dementia or Psychopathology.

    Science.gov (United States)

    Esbensen, Anna J; Johnson, Emily Boshkoff; Amaral, Joseph L; Tan, Christine M; Macks, Ryan

    2016-01-01

    Differences were examined between three groups of adults with Down syndrome in their behavioral presentation, social life/activities, health, and support needs. We compared those with comorbid dementia, with comorbid psychopathology, and with no comorbid conditions. Adults with comorbid dementia were more likely to be older, have lower functional abilities, have worse health and more health conditions, and need more support in self-care. Adults with comorbid psychopathology were more likely to exhibit more behavior problems and to be living at home with their families. Adults with no comorbidities were most likely to be involved in community employment. Differences in behavioral presentation can help facilitate clinical diagnoses in aging in Down syndrome, and implications for differential diagnosis and service supports are discussed.

  13. Effectiveness of Serial Measurement of Differential Pressure in Closed Tibial Diaphyseal Fractures in Diagnosing Acute Compartment Syndrome using Whiteside's Technique.

    Science.gov (United States)

    Ramprasath, D R; Thirunarayanan, V; David, J; Anbazhagan, S

    2016-03-01

    Acute Compartment Syndrome is a limb-threatening emergency and it occurs most commonly after fractures. The aim of our study is to find out the effectiveness of serial measurement of differential pressure in closed tibial diaphyseal fractures, in diagnosing acute compartment syndrome, using Whiteside's technique. A total of 52 cases in the age group of 15 to 55 years admitted with closed fractures were studied for serial compartment pressure as well as serial differential pressure. Eight patients had persistent compartment pressure > 40mmHg, out of which only two patients had persistent differential pressure compartment pressure serially and calculating differential pressure serially, acute compartment syndrome can be diagnosed or ruled out with higher precision, so that unnecessary fasciotomies can be avoided.

  14. Reticulated acanthoma with sebaceous differentiation. Lack of association with Muir-Torre syndrome.

    Science.gov (United States)

    Haake, Dana L; Minni, John P; Nowak, Michael; Abenoza, Pascual; Nousari, Carlos H

    2009-06-01

    We hereby report a case of a reticulated acanthoma with sebaceous differentiation (RASD), a rare and often mislabeled benign lesion that is characterized by epidermal acanthosis and clusters of sebocytes in a reticulated seborrheic keratosis-like pattern. The presence of multiple sebaceous tumors, most notably cystic sebaceous adenomas and keratoacanthomas, has been associated with Muir-Torre syndrome (MTS). Although very rare, cases of RASD have been reported with MTS, which potentially offers profound clinical significance to this neoplasm. This case further supports the lack of association of MTS with RASD.

  15. Differential DNA methylation patterns of polycystic ovarian syndrome in whole blood of Chinese women

    DEFF Research Database (Denmark)

    Li, Shuxia; Zhu, Dongyi; Duan, Hongmei;

    2016-01-01

    interference of the genome with the environment through integrative biological mechanisms including epigenetics. We have performed a genome-wide DNA methylation analysis on polycystic ovarian syndrome and identified a substantial number of genomic sites differentially methylated in the whole blood of PCOS...... patients and healthy controls (52 sites, false discovery rate discovery rate ... in the DNA methylome from ovarian tissue under PCOS condition. Most importantly, our genome-wide profiling focusing on PCOS patients revealed a large number of DNA methylation sites and their enriched functional pathways significantly associated with diverse clinical features (levels of prolactin, estradiol...

  16. Down Syndrome: Eye Problems

    Science.gov (United States)

    ... En Español Read in Chinese What causes Down syndrome? Down syndrome is caused by a duplication of all ... Where can I find more information regarding Down Syndrome? National Down Syndrome Society VISIT SITE » Downs Syndrome Association VISIT ...

  17. Differential Diagnoses of Restless Legs Syndrome/Willis-Ekbom Disease: Mimics and Comorbidities.

    Science.gov (United States)

    Chokroverty, Sudhansu

    2015-09-01

    Restless legs syndrome (RLS) mimics cannot always be differentiated from RLS/Willis-Ekbom disease (WED) based on 4 essential criteria; hence, a fifth criterion has recently been established. RLS comorbidities may provide us important clues for understanding the neurobiology of RLS/WED. Iron-dopamine connection, hypoxia pathway activation, and dopamine-opioid interaction are important pathophysiological mechanisms in RLS; this knowledge is derived from our understanding of RLS associations with a variety of medical, neurologic, and other conditions. Clinicians must formulate an RLS differential diagnosis based on history and physical examination, but laboratory tests may sometimes be needed to arrive at a correct diagnosis. Copyright © 2015 Elsevier Inc. All rights reserved.

  18. Syndrome Differentiation and Care for the Patients with Vertigo%眩晕的辨证施护

    Institute of Scientific and Technical Information of China (English)

    李夏莲

    2014-01-01

    Objective: To explore the influence of syndrome differentiation and care on the patients with vertigo. Methods: The patients were differentiated, classified and nursed according to different patterns classified according to syndrome differentiation, and cared. Results:There were 663 cases in the group, 258 cases cured, 357 cases improved, total effective rate reached 92.8%.Conclusion:Different patients could manifest different syndromes in periods, during the course of syndrome differentiation and care, we must adhere to the principles of same disease and different nursing, the patients should be nursed when the syndrome is differentiated, therefore, to obtain better effects.%目的:探讨辨证施护对眩晕的护理效果。方法:将眩晕症患者辨证分型,根据不同的证型进行辨证施护。结果:本组病例663例,治愈258例,好转357例,总有效率达92.8%。结论:眩晕在不同的时期可出现不同的证候,在实施辨证施护的过程中,必须遵循同病异护的原则,辨明证型再施护,才能取得良好的效果。

  19. In vitro differentiation profile of osteoblasts derived from patients with Saethre-Chotzen syndrome.

    Science.gov (United States)

    Ratisoontorn, Chootima; Seto, Marianne L; Broughton, Kristen M; Cunningham, Michael L

    2005-04-01

    Seathre-Chotzen syndrome (SCS) is an autosomal dominant craniosynostosis syndrome, associated with loss-of-function mutations in the basic helix-loop-helix transcription factor, TWIST1. The biologic activity of TWIST1 has been implicated in the inhibition of differentiation of multiple cell lineages. Therefore, premature fusion of cranial sutures (craniosynostosis) in SCS may be mediated by altered differentiation of calvarial osteoblasts. In this study, we evaluated osteoblasts derived from calvarial bone of three patients with SCS and three unaffected individuals as controls to investigate the principle stages of osteoblast differentiation: (1) proliferation, (2) matrix maturation, and (3) mineralization. Using a BrdU-Hoechst flow cytometry assay, we found that the percent of proliferating cells was significantly reduced in cells derived from patients with SCS compared with those derived from controls (P < or = 0.05). In the matrix maturation stage, alkaline phosphatase (ALP) enzyme activity and the expression of extracellular matrix genes, collagen I alpha 2 (COL1A2), osteopontin (OPN), osteocalcin (OC), and the runt-related transcription factor RUNX2 were examined by enzymatic assay and real-time quantitative RT-PCR, respectively. We identified no significant differences in the expression of matrix related transcripts. However, we found significant reductions in ALP activity on days 3 and 7 and in RUNX2 expression on days 14 and 21 (P < or = 0.05). Quantitative alizarin red S mineralization assays showed a trend toward increased mineralization in osteoblasts derived from patients with SCS at days 21 and 28, although not statistically significant. Our results demonstrated that loss-of-function mutations of TWIST1 led to reduced proliferation regardless of the functional domain affected. We did not find any conclusive differences in matrix maturation or mineralization in these primary osteoblasts. It is plausible that mutations in different functional domains of

  20. Application of electrophysiological methods and magnetic resonance tomographic angiography in the differentiation between hemifacial spasm and Meige syndrome.

    Science.gov (United States)

    Huang, Chuyi; Miao, Suhua; Chu, Heling; Muheremu, Aikeremujiang; Wu, Jinting; Zhou, Rongsong; Zuo, Huancong; Ma, Yu

    2016-05-01

    Bilateral hemifacial spasm and Meige syndrome can be easily confused due to their similar clinical manifestation. Here, we aimed to investigate the application of electrophysiological methods and magnetic resonance tomographic angiography (MRTA) in the differentiation between hemifacial spasm and Meige syndrome. 10 patients with bilateral hemifacial spasm and 9 patients with Meige syndrome received electrophysiological monitoring of nerves. There were two males and eight females with bilateral hemifacial spasm, aged 16-58 years with a course of 5-54 months. For the patients with Meige syndrome, there were three males and six females, aged 51-68 years with a course of 12-36 months. All patients received conventional MRTA of the brain blood vessels before decompression. We found that all patients with Meige syndrome showed synchronous contraction of bilateral orbicularis oculi muscles and (or) burst discharge from orbicularis oris muscles in surface electromyography (sEMG). However, those with hemifacial spasm presented with bilaterally asynchronous burst discharge. Electromyography for patients with Meige syndrome did not record abnormal muscle response (AMR), but recorded AMR for those with bilateral hemifacial spasm. The offending vessels were compressed in patients with hemifacial spasm in MRTA, while MRTA results were generally negative for those with Meige syndrome. Combining sEMG and AMR detection in EMG and MRTA, bilateral hemifacial spasm can be differentiated from Meige syndrome with a reduction of misdiagnosis rate.

  1. Genetics Home Reference: MECP2 duplication syndrome

    Science.gov (United States)

    ... 000 to a few million DNA building blocks (base pairs). The MECP2 gene is always included in ... qualified healthcare professional . About Selection Criteria for Links Data Files & API Site Map Customer Support USA.gov ...

  2. Hyperactive mTOR pathway promotes lymphoproliferation and abnormal differentiation in autoimmune lymphoproliferative syndrome.

    Science.gov (United States)

    Völkl, Simon; Rensing-Ehl, Anne; Allgäuer, Andrea; Schreiner, Elisabeth; Lorenz, Myriam Ricarda; Rohr, Jan; Klemann, Christian; Fuchs, Ilka; Schuster, Volker; von Bueren, André O; Naumann-Bartsch, Nora; Gambineri, Eleonora; Siepermann, Kathrin; Kobbe, Robin; Nathrath, Michaela; Arkwright, Peter D; Miano, Maurizio; Stachel, Klaus-Daniel; Metzler, Markus; Schwarz, Klaus; Kremer, Anita N; Speckmann, Carsten; Ehl, Stephan; Mackensen, Andreas

    2016-07-14

    Autoimmune lymphoproliferative syndrome (ALPS) is a human disorder characterized by defective Fas signaling, resulting in chronic benign lymphoproliferation and accumulation of TCRαβ(+) CD4(-) CD8(-) double-negative T (DNT) cells. Although their phenotype resembles that of terminally differentiated or exhausted T cells, lack of KLRG1, high eomesodermin, and marginal T-bet expression point instead to a long-lived memory state with potent proliferative capacity. Here we show that despite their terminally differentiated phenotype, human ALPS DNT cells exhibit substantial mitotic activity in vivo. Notably, hyperproliferation of ALPS DNT cells is associated with increased basal and activation-induced phosphorylation of serine-threonine kinases Akt and mechanistic target of rapamycin (mTOR). The mTOR inhibitor rapamycin abrogated survival and proliferation of ALPS DNT cells, but not of CD4(+) or CD8(+) T cells in vitro. In vivo, mTOR inhibition reduced proliferation and abnormal differentiation by DNT cells. Importantly, increased mitotic activity and hyperactive mTOR signaling was also observed in recently defined CD4(+) or CD8(+) precursor DNT cells, and mTOR inhibition specifically reduced these cells in vivo, indicating abnormal programming of Fas-deficient T cells before the DNT stage. Thus, our results identify the mTOR pathway as a major regulator of lymphoproliferation and aberrant differentiation in ALPS.

  3. Chest sonography: a useful tool to differentiate acute cardiogenic pulmonary edema from acute respiratory distress syndrome

    Directory of Open Access Journals (Sweden)

    Soldati Gino

    2008-04-01

    Full Text Available Abstract Background Differential diagnosis between acute cardiogenic pulmonary edema (APE and acute lung injury/acute respiratory distress syndrome (ALI/ARDS may often be difficult. We evaluated the ability of chest sonography in the identification of characteristic pleuropulmonary signs useful in the diagnosis of ALI/ARDS and APE. Methods Chest sonography was performed on admission to the intensive care unit in 58 consecutive patients affected by ALI/ARDS or by acute pulmonary edema (APE. Results Ultrasound examination was focalised on finding in the two groups the presence of: 1 alveolar-interstitial syndrome (AIS 2 pleural lines abnormalities 3 absence or reduction of "gliding" sign 4 "spared areas" 5 consolidations 6 pleural effusion 7 "lung pulse". AIS was found in 100% of patients with ALI/ARDS and in 100% of patients with APE (p = ns. Pleural line abnormalities were observed in 100% of patients with ALI/ARDS and in 25% of patients with APE (p All signs, except the presence of AIS, presented a statistically significant difference in presentation between the two syndromes resulting specific for the ultrasonographic characterization of ALI/ARDS. Conclusion Pleuroparenchimal patterns in ALI/ARDS do find a characterization through ultrasonographic lung scan. In the critically ill the ultrasound demonstration of a dyshomogeneous AIS with spared areas, pleural line modifications and lung consolidations is strongly predictive, in an early phase, of non-cardiogenic pulmonary edema.

  4. Diffusion tensor MRI contributes to differentiate Richardson's syndrome from PSP-parkinsonism.

    Science.gov (United States)

    Agosta, Federica; Pievani, Michela; Svetel, Marina; Ječmenica Lukić, Milica; Copetti, Massimiliano; Tomić, Aleksandra; Scarale, Antonio; Longoni, Giulia; Comi, Giancarlo; Kostić, Vladimir S; Filippi, Massimo

    2012-12-01

    This study investigated the regional distribution of white matter (WM) damage in Richardson's syndrome (PSP-RS) and progressive supranuclear palsy-Parkinsonism (PSP-P) using diffusion tensor (DT) magnetic resonance imaging (MRI). The DT MRI classificatory ability in diagnosing progressive supranuclear palsy (PSP) syndromes, when used in combination with infratentorial volumetry, was also quantified. In 37 PSP (21 PSP-RS, 16 PSP-P) and 42 controls, the program Tract-Based Spatial Statistics (TBSS; www.fmrib.ox.ac.uk/fsl/tbss) was applied. DT MRI metrics were derived from supratentorial, thalamic, and infratentorial tracts. The magnetic resonance parkinsonism index (MRPI) was calculated. All PSP harbored diffusivity abnormalities in the corpus callosum, frontoparietal, and frontotemporo-occipital tracts. Infratentorial WM and thalamic radiations were severely affected in PSP-RS and relatively spared in PSP-P. When MRPI and DT MRI measures were combined, the discriminatory power increased for each comparison. Distinct patterns of WM alterations occur in PSP-RS and PSP-P. Adding DT MRI measures to MRPI improves the diagnostic accuracy in differentiating each PSP syndrome from healthy individuals and each other.

  5. Analysis on Zhang Zhongjing's syndrome differentiation system%仲景辨证论治体系探析

    Institute of Scientific and Technical Information of China (English)

    何新慧

    2012-01-01

    This paper argues that syndrome differentiation of six meridians and syndrome differentiation of Zang, Fu, meridian and collaterals are the two programmatic differentiations in Treatise on Febrile Diseases and Synopsis of Golden Chamber. Syndrome differentiation of six meridians in Treatise on Febrile Diseases reflects the commonality of occurrence and development of diseases; syndrome differentiation of Zang, Fu, meridians and collaterals reveals the individuality of occurrence and development of diseases; Zhang Zhongjing' s academic thoughts and ideas for differentiation and treatment of diseases go through the two books.%六经辨证和脏腑经络辨证是《伤寒论》、《金匮要略》辨证论治的纲领,《伤寒论》六经辨证反映了疾病发生发展的共性;《金匮要略》脏腑经络辨证揭示了疾病发生发展的个性;仲景辨证论治的思想和方法贯穿两书.两者相互相成,构成了完整的辨证论治体系.

  6. [Principle and application of Chinese medicine syndrome differentiation and disease classification].

    Science.gov (United States)

    Lu, Ai-ping; Li, Shao

    2010-01-01

    Taxonomy of diseases is usable in Western medicine and also in Chinese medicine, but with different measures of sorting, i.e. disease classification in Western medicine and the syndrome differentiation in Chinese medicine. Actually, an integrative mode of the above two measures is already the chief mode of sorting applied in clinical practice of Chinese medicine and integrative medicine. The two measures are introduced in this paper, and the integrative mode is deeply analyzed as well. Its biomedical interpretation and protocol are operational explained, and its important values, involving clinical practice for assessments of therapeutic efficacy, drug action and safety; new drug research and development; medical innovation; and research on internal relation among diseases, are discussed with illustration. The authors indicated that the integrative taxonomic mode of disease classification and syndrome differentiation is an important theoretical representation for mutual-supplementing of Chinese medicine and Western medicine in integrative medicine, also the important measure and approach for developing Chinese medicine and innovating biomedicine, and it is meaningful in both theoretical guidance and actual clinical practice.

  7. Study on TCM Syndrome Differentiation of Primary Liver Cancer Based on the Analysis of Latent Structural Model

    Directory of Open Access Journals (Sweden)

    Zhan Gu

    2015-01-01

    Full Text Available Primary liver cancer (PLC is one of the most common malignant tumors because of its high incidence and high mortality. Traditional Chinese medicine (TCM plays an active role in the treatment of PLC. As the most important part in the TCM system, syndrome differentiation based on the clinical manifestations from traditional four diagnostic methods has met great challenges and questions with the lack of statistical validation support. In this study, we provided evidences for TCM syndrome differentiation of PLC using the method of analysis of latent structural model from clinic data, thus providing basis for establishing TCM syndrome criteria. And also we obtain the common syndromes of PLC as well as their typical clinical manifestations, respectively.

  8. Duplication of the MYB oncogene in T cell acute lymphoblastic leukemia.

    Science.gov (United States)

    Lahortiga, Idoya; De Keersmaecker, Kim; Van Vlierberghe, Pieter; Graux, Carlos; Cauwelier, Barbara; Lambert, Frederic; Mentens, Nicole; Beverloo, H Berna; Pieters, Rob; Speleman, Frank; Odero, Maria D; Bauters, Marijke; Froyen, Guy; Marynen, Peter; Vandenberghe, Peter; Wlodarska, Iwona; Meijerink, Jules P P; Cools, Jan

    2007-05-01

    We identified a duplication of the MYB oncogene in 8.4% of individuals with T cell acute lymphoblastic leukemia (T-ALL) and in five T-ALL cell lines. The duplication is associated with a threefold increase in MYB expression, and knockdown of MYB expression initiates T cell differentiation. Our results identify duplication of MYB as an oncogenic event and suggest that MYB could be a therapeutic target in human T-ALL.

  9. Fecal calprotectin: a marker for clinical differentiation of microscopic colitis and irritable bowel syndrome

    Directory of Open Access Journals (Sweden)

    von Arnim U

    2016-04-01

    Full Text Available Ulrike von Arnim, Thomas Wex, Christine Ganzert, Christian Schulz, Peter Malfertheiner Department of Gastroenterology, Hepatology and Infectious Diseases, Otto-von-Guericke University, Magdeburg, Germany Background: The aim of this study is to compare two methods for measuring fecal calprotectin (FC concentration and to evaluate the possibility of differentiation between microscopic colitis (MC and irritable bowel syndrome (IBS. Methods: Twenty-three patients with MC (six patients with active disease and 17 patients retested in remission and 20 patients with IBS were prospectively included in this study. Active disease state of MC was determined by clinical symptoms of >3 bowel movements per day and histological correlate. All patients underwent ileocolonoscopy, including segmental biopsy samples for histology. FC levels in stool samples were analyzed using a rapid test system (Quantum Blue® and an enzyme-linked immunosorbent assay (ELISA. Results: FC levels were significantly higher in patients with active MC (median 48 µg/g [23–106] compared to patients with IBS (median 2 µg/g [1–111.83], P=0.0001 using an ELISA. FC level of patients with MC in remission was 22 µg/g (1–106.4, which is similar to those identified in patients with IBS. The difference of FC levels between active MC and IBS was not detected by the FC rapid test (P=0.635. Discussion: FC levels might serve as parameter for differentiation between patients with active MC and IBS. Since there is no surrogate marker available at present for MC, FC appears to be a candidate for differentiating MC from IBS. Conclusion: High FC levels, which were analyzed by ELISA, are a potential marker for patients with active MC compared to those with IBS. The FC rapid test was less suitable for this purpose. Keywords: microscopic colitis, fecal calprotectin, irritable bowel syndrome, IBS, diarrhea, chronic diarrhea

  10. Evolution of the duplicated intracellular lipid-binding protein genes of teleost fishes.

    Science.gov (United States)

    Venkatachalam, Ananda B; Parmar, Manoj B; Wright, Jonathan M

    2017-08-01

    Increasing organismal complexity during the evolution of life has been attributed to the duplication of genes and entire genomes. More recently, theoretical models have been proposed that postulate the fate of duplicated genes, among them the duplication-degeneration-complementation (DDC) model. In the DDC model, the common fate of a duplicated gene is lost from the genome owing to nonfunctionalization. Duplicated genes are retained in the genome either by subfunctionalization, where the functions of the ancestral gene are sub-divided between the sister duplicate genes, or by neofunctionalization, where one of the duplicate genes acquires a new function. Both processes occur either by loss or gain of regulatory elements in the promoters of duplicated genes. Here, we review the genomic organization, evolution, and transcriptional regulation of the multigene family of intracellular lipid-binding protein (iLBP) genes from teleost fishes. Teleost fishes possess many copies of iLBP genes owing to a whole genome duplication (WGD) early in the teleost fish radiation. Moreover, the retention of duplicated iLBP genes is substantially higher than the retention of all other genes duplicated in the teleost genome. The fatty acid-binding protein genes, a subfamily of the iLBP multigene family in zebrafish, are differentially regulated by peroxisome proliferator-activated receptor (PPAR) isoforms, which may account for the retention of iLBP genes in the zebrafish genome by the process of subfunctionalization of cis-acting regulatory elements in iLBP gene promoters.

  11. Analysis of Duplicate Genes in Soybean

    Institute of Scientific and Technical Information of China (English)

    C.M. Cai; K.J. Van; M.Y. Kim; S.H. Lee

    2007-01-01

    @@ Gene duplication is a major determinant of the size and gene complement of eukaryotic genomes (Lockton and Gaut, 2005). There are a number of different ways in which duplicate genes can arise (Sankoff, 2001), but the most spectacular method of gene duplication may be whole genome duplication via polyploidization.

  12. Syndrome Differentiation and Treatment Experience of Vitiligo%白癜风证治经验

    Institute of Scientific and Technical Information of China (English)

    周宝宽

    2011-01-01

    Objective:To summarize syndrome differentiation and treatment experience of vitiligo in clinic. Methods:Discuss etiopathogenisis , pathogenesis, pattern of syndrome, method of treatment, formulas and medicinals based on medical records. Results:Etiopathogenisis and pathogenesis are natural endowment weakness, being invaded by exogenous pathogen, blocking meridian, Qi and blood to be on bad terms; moodiness internal injury, depression of liver-QI, stagnation of liver-QI, disease secondly induced by wind evil, meridian blocked, failure of skin and muscle to be nourished.Cmmon Syndromes of Vitiligo are QI-blood disharmony, stagnation of QI due to depression of the liver, hepatic and renal yin deficiency, stagnation of vital energy and blood stasis.Treatment principles of vitiligo are coordinating qi and blood, disperse the depressed liver-energy and regulating vital energy, nourishing liver and kidney, activating blood circulation to dissipate blood stasis, dispelling wind and removing obstruction in the meridians. Conclusions:Syndrome differentiation and treatment shows a better therapeutic effect for vitiligo.%目的:总结周宝宽主任医师辨证论治白癜风经验.方法:以医案的形式阐述白癜风的病因病机、证型、治法、方药.结果:白癜风的病因病机为禀赋不耐,感受外邪,阻滞经络,气血失和;情志内伤,肝气郁结,复感风邪,肌肤失养;禀赋不足,肝肾亏虚,久病失治或复感风邪,脉络瘀滞,肌肤失养.常见证型为气血失和、肝郁气滞、肝肾阴虚、气滞血瘀.常用治法为调和气血、疏肝理气、滋补肝肾、活血化瘀、祛风通络.结论:辨证论治白癜风有一定疗效.

  13. A Clinical Study on Syndrome Differentiation of Male with Teeth-Mark Tongue

    Directory of Open Access Journals (Sweden)

    Soo-Jung Lee

    2010-12-01

    Full Text Available Objectives : The purpose of this study was to analyze the propensity and find out the Syndrome Differentiation of teeth-mark tongue by taking survey and body examinations with 178 male patients. 164 patients out of 178 were checked up on Heart Rate Variability (HRV, Accelerated Photoplethysmograpy (APG, Body Composition. This study was also planned to find out the distinctive characteristics of teeth-mark tongue diagnosis and compare differences between Qi-Deficiency and Accumulation of Dampness and Phlegm patients group. Methods : The questionnaire was carried out targeting 178 male with teeth-mark tongue respondents among who had Oriental Health Examination and patients from the 3rd oriental-internal medicine department in Dongeui Hospital from 1st , March 2005 to 30th, April 2010. Only 164 patients were checked on HRV, APG and Body composition examinations. Results : It showed that 86 patients had Qi-Deficiency and 78 had Dampness and Phlegm but 14 couldn’t be categorized. The major symptoms of Qi-Deficiency compared to Dampness and Phlegm were ‘Frequent running nose’, ‘Soft stool’, ‘Chronic fatigue’, and ‘Eyestrain’. On the contrary, Dampness and Phlegm’s dominant symptoms were ‘Chest discomfort’, ‘Feeling bloated’, ‘Back pain’, ‘Feeling sluggish’, and ‘Itchy skin’. However, all symptoms were not matched with the Syndrome Differentiation of Qi-Deficiency or Dampness and Phlegm. It also showed that teeth-mark tongue patients’ frequent symptoms were ‘Stuffy nose’, ‘Feeling bloated’, ‘Oliguria’, ‘Shoulder pain’, ‘Chronic fatigue’, ‘Eyestrain’ and these symptoms were matched with the Syndrome Differentiation of Qi-Deficiency and Dampness and Phlegm. In the results from this study, there were no significant differences between Qi-Deficiency and Dampness and Phlegm. Conclusions : It is hard to conclude that teeth-mark tongue could be only one to diagnose Qi-Deficiency or Dampness

  14. Dorsal dimelia in patau syndrome: a case report.

    Science.gov (United States)

    Fattah, A; Pickford, M A

    2007-10-01

    We present a case of a child with Patau syndrome that exhibits features consistent with congenital palmar nail syndrome. The literature is reviewed and evidence presented to demonstrate that this is a defect in the dorso-ventral patterning of the limb and thus a form of dorsal dimelia. In order to differentiate this from other instances of ectopic nail tissue we suggest congenital palmar nail syndrome should be more specifically defined as duplicated nails, absent flexion creases, non-glabrous skin on the palmar surface, reduced movement at the interphalangeal joints and hypoplastic terminal phalanges.

  15. A rare differential diagnosis to occupational neck pain: bilateral stylohyoid syndrome

    Directory of Open Access Journals (Sweden)

    Vogel Tobias

    2006-06-01

    Full Text Available Abstract Chronic neck pain is widely prevalent and a common source of disability in the working-age population. Etiology of chronic neck pain includes neck sprain, mechanical or muscular neck pain, myofascial pain syndrome, postural neck pain as well as pain due to degenerative changes. We report the case of a 42 year old secretary, complaining about a longer history of neck pain and limited movement of the cervical spine. Surprisingly, the adequate radiologic examination revealed a bilateral ossification of the stylohyoid ligament complex. Her symptoms remained intractable from conservative treatment consisting of anti-inflammatory medication as well as physical therapy. Hence the patient was admitted to surgical resection of the ossified stylohyoid ligament complex. Afterwards she was free of any complaints and went back to work. Therefore, ossification of the stylohyoid ligament complex causing severe neck pain and movement disorder should be regarded as a rare differential diagnosis of occupational related neck pain.

  16. Do not overlook Weismann-Netter syndrome in differential diagnosis of skeletal dysplasias.

    Science.gov (United States)

    Caksen, H; Kurtoğlu, S

    2004-01-01

    Weismann-Netter syndrome (WNS), a rare condition, is characterized by an anterior curvature of the bones of the lower limbs, usually bilateral and symmetrical. It was first described in 1954 by Weismann-Netter and Stuhl. We report a 2-year-old girl with typical findings of WNS who was misdiagnosed as having rickets. Our purpose is to draw attention to the WNS in the differential diagnosis of skeletal dysplasias. We think that the true incidence of WNS is probably higher than previously reported; therefore, we would like to emphasize that WNS should be considered in patients who have bowed lower extremities and have been diagnosed as having syphilis or healed rickets.

  17. A rare differential diagnosis to occupational neck pain: bilateral stylohyoid syndrome.

    Science.gov (United States)

    Kirchhoff, Gertrud; Kirchhoff, Chlodwig; Buhmann, Sonja; Kanz, Karl-Georg; Lenz, Miriam; Vogel, Tobias; Kichhoff, Rainer Maria

    2006-06-26

    Chronic neck pain is widely prevalent and a common source of disability in the working-age population. Etiology of chronic neck pain includes neck sprain, mechanical or muscular neck pain, myofascial pain syndrome, postural neck pain as well as pain due to degenerative changes. We report the case of a 42 year old secretary, complaining about a longer history of neck pain and limited movement of the cervical spine. Surprisingly, the adequate radiologic examination revealed a bilateral ossification of the stylohyoid ligament complex. Her symptoms remained intractable from conservative treatment consisting of anti-inflammatory medication as well as physical therapy. Hence the patient was admitted to surgical resection of the ossified stylohyoid ligament complex. Afterwards she was free of any complaints and went back to work. Therefore, ossification of the stylohyoid ligament complex causing severe neck pain and movement disorder should be regarded as a rare differential diagnosis of occupational related neck pain.

  18. Differentiating (131)I Radiation Sialadenitis From Autoimmune (Sjögren Syndrome) Sialadenitis: Case Report.

    Science.gov (United States)

    Mandel, Louis; Greene, Loren Wissner

    2017-04-17

    Radioactive iodine ((131)I) is used effectively for the treatment of differentiated thyroid cancers. Because it is actively secreted by the salivary glands, radiation damage to these glands can occur. Obstructive swellings after mealtime salivary stimulation are common occurrences. Dry mouth is not usually seen if low doses of (131)I are used. A subjective complaint of xerostomia in a patient treated with (131)I 75.8 mCi proved to be related to the simultaneous presence of Sjögren syndrome (SS). Serologic, histologic, scintigraphic, and salivary volume findings and the patient's subjective complaints served to establish the pre-existence of SS. Copyright © 2017 American Association of Oral and Maxillofacial Surgeons. Published by Elsevier Inc. All rights reserved.

  19. Differentiating giant cell tumor of bone from patellofemoral syndrome: a case study.

    Science.gov (United States)

    Bonar, Jason; Carr, Shannon Clutton; De Carvalho, Diana; Wunder, Jay S

    2016-03-01

    Balancing the assessment of musculoskeletal dysfunctions with a high level of suspicion for non-mechanical origins can be a challenge for the clinician examining a sports injury. Without timely diagnosis, non-mechanical complaints could result in surgery or loss of limb. This case describes the discovery of a Giant Cell Tumor of Bone (GCTB) following the re-evaluation of an athlete who had undergone five years of conservative management for patellofemoral pain syndrome (PFPS). Knee injuries account for 32.6% of sports injuries with PFPS being the most common and most likely diagnosis for anterior knee pain. GCTB is a benign aggressive bone tumor with a predilection for the juxta-articular region of the knee, comprising up to 23% of all benign bone tumors, and commonly occurs in the second to fourth decades. This case report illustrates the difficulty in accurately diagnosing healthy athletes, reviews common differentials for knee complaints and explores helpful diagnostic procedures.

  20. Limited Diagnostic Utility of Plasma Adrenocorticotropic Hormone for Differentiation between Adrenal Cushing Syndrome and Cushing Disease.

    Science.gov (United States)

    Hong, A Ram; Kim, Jung Hee; Hong, Eun Shil; Kim, I Kyeong; Park, Kyeong Seon; Ahn, Chang Ho; Kim, Sang Wan; Shin, Chan Soo; Kim, Seong Yeon

    2015-09-01

    Measurement of the plasma adrenocorticotropic hormone (ACTH) level has been recommended as the first diagnostic test for differentiating between ACTH-independent Cushing syndrome (CS) and ACTH-dependent CS. When plasma ACTH values are inconclusive, a differential diagnosis of CS can be made based upon measurement of the serum dehydroepiandrosterone sulfate (DHEA-S) level and results of the high-dose dexamethasone suppression test (HDST). The aim of this study was to assess the utility of plasma ACTH to differentiate adrenal CS from Cushing' disease (CD) and compare it with that of the HDST results and serum DHEA-S level. We performed a retrospective, multicenter study from January 2000 to May 2012 involving 92 patients with endogenous CS. The levels of plasma ACTH, serum cortisol, 24-hour urine free cortisol (UFC) after the HDST, and serum DHEA-S were measured. Fifty-seven patients had adrenal CS and 35 patients had CD. The area under the curve of plasma ACTH, serum DHEA-S, percentage suppression of serum cortisol, and UFC after HDST were 0.954, 0.841, 0.950, and 0.997, respectively (all P<0.001). The cut-off values for plasma ACTH, percentage suppression of serum cortisol, and UFC after HDST were 5.3 pmol/L, 33.3%, and 61.6%, respectively. The sensitivity and specificity of plasma ACTH measurement were 84.2% and 94.3%, those of serum cortisol were 95.8% and 90.6%, and those of UFC after the HDST were 97.9% and 96.7%, respectively. Significant overlap in plasma ACTH levels was seen between patients with adrenal CS and those with CD. The HDST may be useful in differentiating between these forms of the disease, especially when the plasma ACTH level alone is not conclusive.

  1. Exploration of Syndrome Differentiation Patterns in Coronary Heart Disease Patients during Peri-Operative Stage of Coronary Artery Bypass Graft

    Institute of Scientific and Technical Information of China (English)

    2001-01-01

    Objective: To explore the patterns of Syndrome Differentiation (SD) of coronary heart disease (CHD) patients in peri-operative stage of coronary artery bypass graft (CABG). Methods: One week after operation, thirty-seven CHD patients, who received CABG of internal mammary artery or great saphena vein under conventional general anesthesia with low or middle temperature extracorporeal circulation were differentiated as various syndromes, with the pre- or post-operational EKG, color Doppler echocardiography were done during and after operation. The hemodynamic parameters were monitored. Results: In the CHD patients, 64.9% were differentiated as Qi-Yin deficiency, 67.6% were complicated with phlegm syndrome and 62.2% with blood stasis, suggesting that Qi-deficiency, phlegm and stasis are the basic pathogenetic factors in patients with CABG. Moreover, the peri-operative syndrome was correlated with the condition of coronary artery lesion, heart and lung functions before operation, and the extracorporeal circulation time during the operation. Conclusion: TCM SD conducting in peri-operative stage might be useful in exploring the patterns of syndrome alteration which provided a basis for preventing peri-operative complications and elevating success rate of operation.

  2. Differential effects of childhood trauma subtypes on fatigue and physical functioning in chronic fatigue syndrome.

    Science.gov (United States)

    De Venter, Maud; Illegems, Jela; Van Royen, Rita; Moorkens, Greta; Sabbe, Bernard G C; Van Den Eede, Filip

    2017-07-19

    There is wide consensus that childhood trauma plays an important role in the aetiology of chronic fatigue syndrome (CFS). The current study examines the differential effects of childhood trauma subtypes on fatigue and physical functioning in individuals suffering from CFS. Participants were 155 well-documented adult, predominantly female CFS patients receiving treatment at the outpatient treatment centre for CFS of the Antwerp University Hospital in Belgium. Stepwise regression analyses were conducted with outcomes of the total score of the Checklist Individual Strength (CIS) measuring fatigue and the scores on the physical functioning subscale of the Medical Outcomes Short Form 36 Health Status Survey (SF-36) as the dependent variables, and the scores on the five subscales of the Traumatic Experiences Checklist (TEC) as the independent variables. The patients' fatigue (β=1.38; p=0.025) and physical functioning scores (β=-1.79; p=0.034) were significantly predicted by childhood sexual harassment. There were no significant effects of emotional neglect, emotional abuse, bodily threat, or sexual abuse during childhood. Of the childhood trauma subtypes investigated, sexual harassment emerged as the most important predictor of fatigue and poor physical functioning in the CFS patients assessed. These findings have to be taken into account in further clinical research and in the assessment and treatment of individuals coping with chronic fatigue syndrome. Copyright © 2017 Elsevier Inc. All rights reserved.

  3. Distinct cerebrospinal fluid proteomes differentiate post-treatment lyme disease from chronic fatigue syndrome.

    Directory of Open Access Journals (Sweden)

    Steven E Schutzer

    Full Text Available BACKGROUND: Neurologic Post Treatment Lyme disease (nPTLS and Chronic Fatigue (CFS are syndromes of unknown etiology. They share features of fatigue and cognitive dysfunction, making it difficult to differentiate them. Unresolved is whether nPTLS is a subset of CFS. METHODS AND PRINCIPAL FINDINGS: Pooled cerebrospinal fluid (CSF samples from nPTLS patients, CFS patients, and healthy volunteers were comprehensively analyzed using high-resolution mass spectrometry (MS, coupled with immunoaffinity depletion methods to reduce protein-masking by abundant proteins. Individual patient and healthy control CSF samples were analyzed directly employing a MS-based label-free quantitative proteomics approach. We found that both groups, and individuals within the groups, could be distinguished from each other and normals based on their specific CSF proteins (p<0.01. CFS (n = 43 had 2,783 non-redundant proteins, nPTLS (n = 25 contained 2,768 proteins, and healthy normals had 2,630 proteins. Preliminary pathway analysis demonstrated that the data could be useful for hypothesis generation on the pathogenetic mechanisms underlying these two related syndromes. CONCLUSIONS: nPTLS and CFS have distinguishing CSF protein complements. Each condition has a number of CSF proteins that can be useful in providing candidates for future validation studies and insights on the respective mechanisms of pathogenesis. Distinguishing nPTLS and CFS permits more focused study of each condition, and can lead to novel diagnostics and therapeutic interventions.

  4. IBZM SPECT and FDG PET in the differential diagnosis of Parkinsonian syndromes. Comparison with respect to inter-rater agreement

    DEFF Research Database (Denmark)

    Derlin, T; Afzal, W; Wilke, F;

    2010-01-01

    Aim: Both IBZM SPECT and FDG PET may be used for differentiation between Parkinson's disease (PD) and atypical neurodegenerative parkinsonian syndromes (APS). However, there are only very limited data of both modalities in the same subjects. The present study compared both modalities with respect...

  5. 俞根初辨治感证理论初探%Preliminarily Exploration of Theory of Susceptible -Syndrome Differentiation

    Institute of Scientific and Technical Information of China (English)

    沈钦荣

    2011-01-01

    从形层说解六经、八纲辨证析六经、寒温一统成新论三方面,对俞根初辨治感证理论作了探讨,认为俞氏以六经统摄三焦、气血辨证,从表里寒热论治外感病,既不同于伤寒学派,又异于温病学派,具有独创性,是绍派伤寒理论的精粹.%From the Shape - Layer theory explanation of six meridians, eight principal syndrome differentiation analysis of six meridians,unified cold and warm into a new theory of these three aspects,the article discusses the Susceptible -Syndrome Differentiation Theory of Yu Genchu. The authors believe that Yu Genchu unify syndrome differentiation of triple energizer, syndrome - differentiation of qi and blood by six meridians, discuss and treat exogenous disease from the interior and exterior,chills and fever. Not only different from the Zhang Zhongjing school, but also different from the epidemic febrile disease school, Yu Theory has originality,and is the essence of the theory of Shaoxing typhoid.

  6. Differential Diagnosis of a Severe Late Onset Ovarian Hyperstimulation Syndrome Associated with Prolonged Ascites Production – a Case Report

    Directory of Open Access Journals (Sweden)

    Ujvari E

    2005-01-01

    Full Text Available Capsule: A case of severe late onset ovarian hyperstimulation syndrome (OHSS with prolonged ascites production. Difficulties of differential diagnosis and management. Objective: This report describes a case of extremely prolonged, severe ovarian hyperstimulation syndrome. Results: 17 litres of ascites have been removed from the abdominal cavity by repeated paracenteses until the 25th week of pregnancy, which progressed after the complete resolution of symptoms to the 34th week, when cesarean section was done. Conclusion: Severe ovarian hyperstimulation syndrome can occasionally follow an unusually prolonged course. Chronic formation of abundant ascites, the presence of ovarian enlargement and elevated levels of certain tumour markers might raise the probability of ovarian cancer. Adequate differential diagnosis and management resulted in delivery of a healthy newborn.

  7. Differential diagnosis and diagnostic flow chart of joint hypermobility syndrome/ehlers-danlos syndrome hypermobility type compared to other heritable connective tissue disorders.

    Science.gov (United States)

    Colombi, Marina; Dordoni, Chiara; Chiarelli, Nicola; Ritelli, Marco

    2015-03-01

    Joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type (JHS/EDS-HT) is an evolving and protean disorder mostly recognized by generalized joint hypermobility and without a defined molecular basis. JHS/EDS-HT also presents with other connective tissue features affecting a variety of structures and organs, such as skin, eye, bone, and internal organs. However, most of these signs are present in variable combinations and severity in many other heritable connective tissue disorders. Accordingly, JHS/EDS-HT is an "exclusion" diagnosis which needs the absence of any consistent feature indicative of other partially overlapping connective tissue disorders. While both Villefranche and Brighton criteria include such an exclusion as a mandatory item, a systematic approach for reaching a stringent clinical diagnosis of JHS/EDS-HT is still lacking. The absence of a consensus on the diagnostic approach to JHS/EDS-HT concerning its clinical boundaries with similar conditions contribute to limit our actual understanding of the pathologic and molecular bases of this disorder. In this review, we revise the differential diagnosis of JHS/EDS-HT with those heritable connective tissue disorders which show a significant overlap with the former and mostly include EDS classic, vascular and kyphoscoliotic types, osteogenesis imperfecta, Marfan syndrome, Loeys-Dietz syndrome, arterial tortuosity syndrome, and lateral meningocele syndrome. A diagnostic flow chart is also offered with the attempt to support the less experienced clinician in stringently recognizing JHS/EDS-HT and stimulate the debate in the scientific community for both management and research purposes.

  8. Three-view bedside ultrasound for the differentiation of acute respiratory distress syndrome from cardiogenic pulmonary edema.

    Science.gov (United States)

    Mantuani, Daniel; Nagdev, Arun; Stone, Michael

    2012-09-01

    Bedside ultrasound is being increasingly used by emergency physicians (EPs) for the differentiation of acute dyspnea in critically ill patients. Lung ultrasound is emerging as a highly sensitive tool in diagnosing alveolar interstitial edema with the presence of diffuse “B-lines” arising from the pleural line. However, when used independently, lung ultrasound is unable to differentiate between cardiogenic and noncardiogenic causes of pulmonary edema. This case report describes a rapid 3-view or “triple scan” sonographic examination to differentiate acute respiratory distress syndrome (ARDS) from cardiogenic pulmonary edema.

  9. Colonic duplication in adults: Report of two cases presenting with rectal bleeding

    Institute of Scientific and Technical Information of China (English)

    C Fotiadis; M Genetzakis; I Papandreou; EP Misiakos; E Agapitos; GC Zografos

    2005-01-01

    Gastrointestinal duplication is an uncommon congenital abnormality in two-thirds of cases manifesting before the age of 2 years. Ileal duplication is common while colonic duplication, either cystic or tubular, is a rather unusual clinical entity that remains asymptomatic and undiagnosed in most cases. Mostly occurring in pediatric patients,colonic duplication is encountered in adults only in a few cases. This study reports two cases of colonic duplication in adults. Both cases presented with rectal bleeding on admission. The study was focused on clinical, imaging,histological, and therapeutical aspects of the presenting cases. Gastrografin enema established the diagnosis in both cases. The cystic structure and the adjacent part of the colon were excised en-block. The study implies that colonic duplication, though uncommon, should be included in the differential diagnosis of rectal bleeding.

  10. A retroperitoneal foregut duplication cyst: a case report

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Yong Woon; Lee, Jin Hee; Byun, Kyung Hwan; Kim, Byung Ki; Sohn, Kyung Sik; Kee, Se Kook; Jeon, Jin Min [Pochon CHA University, Kumi CHA Hospital, Kumi (Korea, Republic of); Yun, Young Kook [College of Medicine, Kyungpook National University, Daegu (Korea, Republic of)

    2006-01-15

    Retroperitoneal foregut duplication cyst is an extremely rare congenital malformation. Pathologically, this lesion contains both gastric mucosa and respiratory type mucosa; radiologically, it is often challenging to differentiate it from the other cystic neoplasms that present a similar appearance. We report on a case of retroperitoneal foregut duplication cyst that was lined by both gastric and pseudostratified ciliated columnar epithelium, and it was also accompanied by a pancreatic pseudocyst. Initially, it presented with peripancreatic and intrapancreatic cystic masses in an asymptomatic 30-year-old man, and this man has since undergone surgical resection.

  11. Differential Diagnosis and Management of Incomplete Locked-In Syndrome after Traumatic Brain Injury

    Directory of Open Access Journals (Sweden)

    Lauren Surdyke

    2017-01-01

    Full Text Available Locked-in syndrome (LIS is a rare diagnosis in which patients present with quadriplegia, lower cranial nerve paralysis, and mutism. It is clinically difficult to differentiate from other similarly presenting diagnoses with no standard approach for assessing such poorly responsive patients. The purpose of this case is to highlight the clinical differential diagnosis process and outcomes of a patient with LIS during acute inpatient rehabilitation. A 32-year-old female was admitted following traumatic brain injury. She presented with quadriplegia and mutism but was awake and aroused based on eye gaze communication. The rehabilitation team was able to diagnose incomplete LIS based on knowledge of neuroanatomy and clinical reasoning. Establishing this diagnosis allowed for an individualized treatment plan that focused on communication, coping, family training, and discharge planning. The patient was ultimately able to discharge home with a single caregiver, improving her quality of life. Continued evidence highlights the benefits of intensive comprehensive therapy for those with acquired brain injury such as LIS, but access is still limited for those with a seemingly poor prognosis. Access to a multidisciplinary, specialized team provides opportunity for continued assessment and individualized treatment as the patient attains more medical stability, improving long-term management.

  12. Differential Diagnosis and Management of Incomplete Locked-In Syndrome after Traumatic Brain Injury.

    Science.gov (United States)

    Surdyke, Lauren; Fernandez, Jennifer; Foster, Hannah; Spigel, Pamela

    2017-01-01

    Locked-in syndrome (LIS) is a rare diagnosis in which patients present with quadriplegia, lower cranial nerve paralysis, and mutism. It is clinically difficult to differentiate from other similarly presenting diagnoses with no standard approach for assessing such poorly responsive patients. The purpose of this case is to highlight the clinical differential diagnosis process and outcomes of a patient with LIS during acute inpatient rehabilitation. A 32-year-old female was admitted following traumatic brain injury. She presented with quadriplegia and mutism but was awake and aroused based on eye gaze communication. The rehabilitation team was able to diagnose incomplete LIS based on knowledge of neuroanatomy and clinical reasoning. Establishing this diagnosis allowed for an individualized treatment plan that focused on communication, coping, family training, and discharge planning. The patient was ultimately able to discharge home with a single caregiver, improving her quality of life. Continued evidence highlights the benefits of intensive comprehensive therapy for those with acquired brain injury such as LIS, but access is still limited for those with a seemingly poor prognosis. Access to a multidisciplinary, specialized team provides opportunity for continued assessment and individualized treatment as the patient attains more medical stability, improving long-term management.

  13. Intrathoracic enteric foregut duplication cyst.

    Directory of Open Access Journals (Sweden)

    Birmole B

    1994-10-01

    Full Text Available A one month old male child presented with respiratory distress since day 10 of life. There was intercostal retraction and decreased air entry on the right side. Investigations revealed a well defined cystic mass in the posterior mediastinum with vertebral anomalies, the cyst was excised by posterolateral thoracotomy. Histopathology revealed it to be an enteric foregut duplication cyst.

  14. SNX27, a protein involved in down syndrome, regulates GPR17 trafficking and oligodendrocyte differentiation.

    Science.gov (United States)

    Meraviglia, Veronica; Ulivi, Alessandro Francesco; Boccazzi, Marta; Valenza, Fabiola; Fratangeli, Alessandra; Passafaro, Maria; Lecca, Davide; Stagni, Fiorenza; Giacomini, Andrea; Bartesaghi, Renata; Abbracchio, Maria P; Ceruti, Stefania; Rosa, Patrizia

    2016-08-01

    The G protein-coupled receptor 17 (GPR17) plays crucial roles in myelination. It is highly expressed during transition of oligodendrocyte progenitor cells to immature oligodendrocytes, but, after this stage, it must be down-regulated to allow generation of mature myelinating cells. After endocytosis, GPR17 is sorted into lysosomes for degradation or recycled to the plasma membrane. Balance between degradation and recycling is important for modulation of receptor levels at the cell surface and thus for the silencing/activation of GPR17-signaling pathways that, in turn, affect oligodendrocyte differentiation. The molecular mechanisms at the basis of these processes are still partially unknown and their characterization will allow a better understanding of myelination and provide cues to interpret the consequences of GPR17 dysfunction in diseases. Here, we demonstrate that the endocytic trafficking of GPR17 is mediated by the interaction of a type I PDZ-binding motif located at the C-terminus of the receptor and SNX27, a recently identified protein of the endosome-associated retromer complex and whose functions in oligodendrocytes have never been studied. SNX27 knock-down significantly reduces GPR17 plasma membrane recycling in differentiating oligodendrocytes while accelerating cells' terminal maturation. Interestingly, trisomy-linked down-regulation of SNX27 expression in the brain of Ts65Dn mice, a model of Down syndrome, correlates with a decrease in GPR17(+) cells and an increase in mature oligodendrocytes, which, however, fail in reaching full maturation, eventually leading to hypomyelination. Our data demonstrate that SNX27 modulates GPR17 plasma membrane recycling and stability, and that disruption of the SNX27/GPR17 interaction might contribute to pathological oligodendrocyte differentiation defects. GLIA 2016. GLIA 2016;64:1437-1460.

  15. FT Duplication Coordinates Reproductive and Vegetative Growth

    Energy Technology Data Exchange (ETDEWEB)

    Hsu, Chuan-Yu [Mississippi State University (MSU); Adams, Joshua P. [Mississippi State University (MSU); Kim, Hyejin [Mississippi State University (MSU); No, Kyoungok [Mississippi State University (MSU); Ma, Caiping [Oregon State University, Corvallis; Strauss, Steven [Oregon State University, Corvallis; Drnevich, Jenny [University of Illinois, Urbana-Champaign; Wickett, Norman [Pennsylvania State University; Vandervelde, Lindsay [Mississippi State University (MSU); Ellis, Jeffrey D. [Mississippi State University (MSU); Rice, Brandon [Mississippi State University (MSU); Gunter, Lee E [ORNL; Tuskan, Gerald A [ORNL; Brunner, Amy M. [Virginia Polytechnic Institute and State University (Virginia Tech); Page, Grier P. [RTI International; Carlson, John E. [Pennsylvania State University; DePamphilis, Claude [Pennsylvania State University; Luthe, Dawn S. [Pennsylvania State University; Yuceer, Cetin [Mississippi State University (MSU)

    2011-01-01

    Annual plants grow vegetatively at early developmental stages and then transition to the reproductive stage, followed by senescence in the same year. In contrast, after successive years of vegetative growth at early ages, woody perennial shoot meristems begin repeated transitions between vegetative and reproductive growth at sexual maturity. However, it is unknown how these repeated transitions occur without a developmental conflict between vegetative and reproductive growth. We report that functionally diverged paralogs FLOWERING LOCUS T1 (FT1) and FLOWERING LOCUS T2 (FT2), products of whole-genome duplication and homologs of Arabidopsis thaliana gene FLOWERING LOCUS T (FT), coordinate the repeated cycles of vegetative and reproductive growth in woody perennial poplar (Populus spp.). Our manipulative physiological and genetic experiments coupled with field studies, expression profiling, and network analysis reveal that reproductive onset is determined by FT1 in response to winter temperatures, whereas vegetative growth and inhibition of bud set are promoted by FT2 in response to warm temperatures and long days in the growing season. The basis for functional differentiation between FT1 and FT2 appears to be expression pattern shifts, changes in proteins, and divergence in gene regulatory networks. Thus, temporal separation of reproductive onset and vegetative growth into different seasons via FT1 and FT2 provides seasonality and demonstrates the evolution of a complex perennial adaptive trait after genome duplication.

  16. Parental Origin of Interstitial Duplications at 15q11.2-q13.3 in Schizophrenia and Neurodevelopmental Disorders

    DEFF Research Database (Denmark)

    Isles, Anthony R; Ingason, Andrés; Lowther, Chelsea

    2016-01-01

    Duplications at 15q11.2-q13.3 overlapping the Prader-Willi/Angelman syndrome (PWS/AS) region have been associated with developmental delay (DD), autism spectrum disorder (ASD) and schizophrenia (SZ). Due to presence of imprinted genes within the region, the parental origin of these duplications may...

  17. Form of 15q proximal duplication appears to be a normal euchromatic variant

    Energy Technology Data Exchange (ETDEWEB)

    Jalal, S.M.; Persons, D.L.; DeWald, G.W.; Lindor, N.M.

    1994-10-01

    Deletions involving often leads to either Prader-Willi or Angelman syndrome, depending on the hereditary path of the deletion (paternal or maternal). A number of cases have been reported in which duplications involving 15q11.2-q13 have not been associated with any detectable phenotypic abnormalities. Ludowese et al. (1991) have summarized 25 such cases that include 10 of their own cases from 5 unrelated families. They conclude that duplication of 15q12-13 does not have an adverse phenotypic effect, though they do not completely rule out the possibility that, instead of 15q12-13 duplication, the extra material could be an insertion from another chromosome. Thus, the dilemma is when duplication of 15q11.2-q13 is clinically significant. We suggest that certain kinds of amplification or duplication involving distal 15q12 and 15q13 may represent a normal variant. 14 refs., 1 fig., 1 tab.

  18. Prenatal Diagnosis of 17p13.1p13.3 Duplication

    Directory of Open Access Journals (Sweden)

    Kirsi Kiiski

    2012-01-01

    Full Text Available We present here the first prenatal diagnosis of 17p13.1p13.3 duplication. 17p13.3 duplication has recently been defined as a new distinctive syndrome with several diagnosed patients. In the current case prenatal chromosome analysis (G-banding performed on cultured amniocytes revealed additional material in chromosome 19p. This was further defined as a chromosome 17p13.1p13.3 duplication by FISH and genomic microarray analysis (GMA. In addition Prenatal BACs-on-Beads (PN_BoBs assay was performed, which detected the duplication clearly. This enables rapid prenatal diagnosis of the duplication for this family in the future.

  19. Diagnostic accuracy of increased urinary cortisol/cortisone ratio to differentiate ACTH-dependent Cushing's syndrome.

    Science.gov (United States)

    Ceccato, Filippo; Trementino, Laura; Barbot, Mattia; Antonelli, Giorgia; Plebani, Mario; Denaro, Luca; Regazzo, Daniela; Rea, Federico; Frigo, Anna Chiara; Concettoni, Carolina; Boscaro, Marco; Arnaldi, Giorgio; Scaroni, Carla

    2017-06-07

    Differential diagnosis between Cushing's Disease (CD) and Ectopic ACTH Syndrome (EAS) may be a pitfall for endocrinologists. The increasing use in clinical practice of chromatography and mass spectrometry improves the measurement of urinary free cortisol (UFF) and cortisone (UFE). We have recently observed that cortisol to cortisone ratio (FEr) was higher in a small series of EAS; in this study we collected a larger number of ACTH-dependent Cushing's Syndrome (CS) to study the role of FEr to characterize the source of corticotropin secretion. High-pressure liquid chromatography with UV detection (HPLC-UV, n=35) or liquid chromatography-tandem mass spectrometry (LC-MS/MS, n=72) were used to measure UFF, UFE and FEr in 83 patients with CD and 24 with EAS. UFF, UFE and FEr levels were higher in EAS than in CD (UFF: 6671 vs 549 nmol/24 hours; UFE: 2069 vs 464 nmol/24 hours; FEr: 4.13 vs 0.97; all P1.15 (the best ROC-based threshold) was able to distinguish CD from EAS with 75% sensitivity (SE) and 75% specificity (SP), AUC 0.811; results were similar between HPLC-UV (SE 73%, SP 79%, AUC 0.708) and LC-MS/MS (SE 77%, SP 73%, AUC 0.834; P=.727). The diagnostic accuracy of FEr was similar to that of CRH test or high-dose dexamethasone suppression test (respectively P=.171 and P=.683), also combined. Finally, FEr was able to increase the number of correct diagnosis in patients with discordant dynamic tests. Urinary FEr >1.15 was able to suggest EAS, with a diagnostic accuracy similar to that of other dynamic tests proposed to study ACTH-dependent CS. © 2017 John Wiley & Sons Ltd.

  20. Importance of 123I-metaiodobenzylguanidine scintigraphy/single photon emission computed tomography for diagnosis and differential diagnostics of Parkinson syndromes.

    Science.gov (United States)

    Jost, Wolfgang H; Del Tredici, Kelly; Landvogt, Christian; Braune, Stefan

    2010-01-01

    The goal of Parkinson syndrome diagnostics is twofold: early diagnosis on the one hand, and accurate differentiation among idiopathic and atypical Parkinson syndromes on the other. (123)I-metaiodobenzylguanidine scintigraphy is the only method that can distinguish with a high degree of sensitivity and specificity between atypical Parkinson syndromes and Parkinson's disease or dementia with Lewy bodies. Additional advantages are the method's widespread availability and radioactive exposure dose comparable to that for single photon emission computed tomography imaging with much lower costs. Only a single radiotracer study is necessary. (123)I-metaiodobenzylguanidine scintigraphy is an indispensable tool for purposes of differentiating among the various Parkinson syndromes.

  1. 论《金匮要略》辨证方法的多样性%Variety of syndrome differentiation strategies of Jin Gui Yao Lue

    Institute of Scientific and Technical Information of China (English)

    刘鑫源; 王昀; 赵进喜

    2016-01-01

    Jin Gui Yao Lue ( Synopsis Golden Chamber) written by ZHANG Zhong-jing, consists of the comprehensive schemes of the principles, methods, formulas and medicinals, as well as syndrome differ-entiation strategies. However, when referring to Jin Gui Yao Lue ( Synopsis Golden Chamber ) , the practitioners always think of the visceral-meridian syndrome differentiation. Actually, there are other various syndrome differentiation strategies, such as syndrome differentiations of the six meridians, the eight principal, constitution-disease-pattern, the location of disease, the different levels or stages, the cause of disease, and the qi, blood, body-fluid. These syndrome differentiation strategies not only set a typical model for later ages but also enlighten later generations to found the more advanced and practical strategies, including triple-jiao syndrome differentiation, wei-qi-ying-xue ( defence-qi-nutrient-blood ) syndrome differentiation, constitution syndrome differentiation and so on. Moreover, they make significant contributions to complete the system of syndrome differentiation in traditional Chinese medicine.%张仲景所著《金匮要略》蕴含了丰富多样的辨证方法,然而一般只提到脏腑经络辨证,实际上,在《金匮要略》中,亦有三阴三阳辨证、八纲辨证、辨体质—辨病—辨证三位一体辨病模式、部位辨证、分阶段—分层次—分期辨证、病因辨证、气血津液辨证等多种辨证方法。

  2. Gilbert’s syndrome: clinical features, diagnostics, differential diagnosis and treatment (part 2

    Directory of Open Access Journals (Sweden)

    T.V. Sorokman

    2017-03-01

    Full Text Available We searched for published and unpublished research using PubMed as the search engine by the keywords: “Gilbert’s syndrome”, “clinical manifestation”, “diagnosis”, “treatment”, taking into consideration studies conducted in the last 10 years, citation review of relevant primary and review articles, conference abstracts, personal files, and contact with expert informants. The criterion for the selection of articles for the study was based on their close relevance to the topic, thus, out of 75 analyzed articles, the findings of the researches covered in 28 articles were crucial. Clinical manifestations of Gilbert’s syndrome (GS are possible both in homozygous for UGT1A1, and in heterozygous status. A latent variant of the disease prevails in individuals with heterozygous status. Up to 30 % of homozygous for the defective gene of GS individuals have an asymptomatic course of the disease. Clinical types of GS: dyspeptic — 43.2 %, asthenovegetative — 15.9 %, icteric — 14.8 % and asymptomatic — 26.1 %. Dietary deviations, mental fatigue, stress, trauma, acute infections, including hepatitis, certain medications intake are the triggers for GS. In 86.4 % of children with GS, the pathology of the upper digestive tract was detected: duodenitis — in 58 % of cases, gastritis — in 56.8 %, esophagitis — in 12.5 %, duodenal ulcer — in 2.3 %, in 39.7 % of patients sphincter disorders were registered (duodenogastric and gastroesophageal bile reflux. The GS is characterized by reduced detoxification function of the liver, in particular in 2/3 of patients decreased hepatocyte metabolic activity was observed, the excretory function of liver cell suffers in another half of patients, the biliary tract disorders and increased risk of gallstones formation are described in 88 % of cases. Some patients with GS have certain psychological disorders, including anxiety. Diagnostic criteria for GS: 1. A peculiar pale yellowish

  3. Proteomic profiles in acute respiratory distress syndrome differentiates survivors from non-survivors.

    Directory of Open Access Journals (Sweden)

    Maneesh Bhargava

    Full Text Available Acute Respiratory Distress Syndrome (ARDS continues to have a high mortality. Currently, there are no biomarkers that provide reliable prognostic information to guide clinical management or stratify risk among clinical trial participants. The objective of this study was to probe the bronchoalveolar lavage fluid (BALF proteome to identify proteins that differentiate survivors from non-survivors of ARDS. Patients were divided into early-phase (1 to 7 days and late-phase (8 to 35 days groups based on time after initiation of mechanical ventilation for ARDS (Day 1. Isobaric tags for absolute and relative quantitation (iTRAQ with LC MS/MS was performed on pooled BALF enriched for medium and low abundance proteins from early-phase survivors (n = 7, early-phase non-survivors (n = 8, and late-phase survivors (n = 7. Of the 724 proteins identified at a global false discovery rate of 1%, quantitative information was available for 499. In early-phase ARDS, proteins more abundant in survivors mapped to ontologies indicating a coordinated compensatory response to injury and stress. These included coagulation and fibrinolysis; immune system activation; and cation and iron homeostasis. Proteins more abundant in early-phase non-survivors participate in carbohydrate catabolism and collagen synthesis, with no activation of compensatory responses. The compensatory immune activation and ion homeostatic response seen in early-phase survivors transitioned to cell migration and actin filament based processes in late-phase survivors, revealing dynamic changes in the BALF proteome as the lung heals. Early phase proteins differentiating survivors from non-survivors are candidate biomarkers for predicting survival in ARDS.

  4. Proteomic analysis of differentially expressed proteins in Fenneropenaeus chinensis hemocytes upon white spot syndrome virus infection.

    Directory of Open Access Journals (Sweden)

    Wei Li

    Full Text Available To elucidate molecular responses of shrimp hemocytes to white spot syndrome virus (WSSV infection, two-dimensional gel electrophoresis was applied to investigate differentially expressed proteins in hemocytes of Chinese shrimp (Fenneropenaeus chinensis at 24 h post infection (hpi. Approximately 580 protein spots were detected in hemocytes of healthy and WSSV-infected shrimps. Quantitative intensity analysis revealed 26 protein spots were significantly up-regulated, and 19 spots were significantly down-regulated. By mass spectrometry, small ubiquitin-like modifier (SUMO 1, cytosolic MnSOD, triosephosphate isomerase, tubulin alpha-1 chain, microtubule-actin cross-linking factor 1, nuclear receptor E75 protein, vacuolar ATP synthase subunit B L form, inositol 1,4,5-trisphosphate receptor, arginine kinase, etc., amounting to 33 differentially modulated proteins were identified successfully. According to Gene Ontology annotation, the identified proteins were classified into nine categories, consisting of immune related proteins, stimulus response proteins, proteins involved in glucose metabolic process, cytoskeleton proteins, DNA or protein binding proteins, proteins involved in steroid hormone mediated signal pathway, ATP synthases, proteins involved in transmembrane transport and ungrouped proteins. Meanwhile, the expression profiles of three up-regulated proteins (SUMO, heat shock protein 70, and arginine kinase and one down-regulated protein (prophenoloxidase were further analyzed by real-time RT-PCR at the transcription level after WSSV infection. The results showed that SUMO and heat shock protein 70 were significantly up-regulated at each sampling time point, while arginine kinase was significantly up-regulated at 12 and 24 hpi. In contrast, prophenoloxidase was significantly down-regulated at each sampling time point. The results of this work provided preliminary data on proteins in shrimp hemocytes involved in WSSV infection.

  5. Circulating Plasma microRNAs can differentiate Human Sepsis and Systemic Inflammatory Response Syndrome (SIRS).

    Science.gov (United States)

    Caserta, Stefano; Kern, Florian; Cohen, Jonathan; Drage, Stephen; Newbury, Sarah F; Llewelyn, Martin J

    2016-06-20

    Systemic inflammation in humans may be triggered by infection, termed sepsis, or non-infective processes, termed non-infective systemic inflammatory response syndrome (SIRS). MicroRNAs regulate cellular processes including inflammation and may be detected in blood. We aimed to establish definitive proof-of-principle that circulating microRNAs are differentially affected during sepsis and non-infective SIRS. Critically ill patients with severe (n = 21) or non-severe (n = 8) intra-abdominal sepsis; severe (n = 23) or non-severe (n = 21) non-infective SIRS; or no SIRS (n = 16) were studied. Next-generation sequencing and qRT-PCR were used to measure plasma microRNAs. Detectable blood miRNAs (n = 116) were generally up-regulated in SIRS compared to no-SIRS patients. Levels of these 'circulating inflammation-related microRNAs' (CIR-miRNAs) were 2.64 (IQR: 2.10-3.29) and 1.52 (IQR: 1.15-1.92) fold higher for non-infective SIRS and sepsis respectively (p SIRS. Six CIR-miRNAs (miR-30d-5p, miR-30a-5p, miR-192-5p, miR-26a-5p, miR-23a-5p, miR-191-5p) provided good-to-excellent discrimination of severe sepsis from severe SIRS (0.742-0.917 AUC of ROC curves). CIR-miRNA levels inversely correlated with pro-inflammatory cytokines (IL-1, IL-6 and others). Thus, among critically ill patients, sepsis and non-infective SIRS are associated with substantial, differential changes in CIR-miRNAs. CIR-miRNAs may be regulators of inflammation and warrant thorough evaluation as diagnostic and therapeutic targets.

  6. Congenital duplication of the gallbladder.

    Science.gov (United States)

    Safioleas, Michael C; Papavassiliou, Vassilios G; Moulakakis, Konstantinos G; Angouras, Dimitrios C; Skandalakis, Panagiotis

    2006-03-01

    Duplication of the gallbladder is a rare congenital anomaly of the biliary system. In this article, two cases of gallbladder duplication are presented. The first case is a patient with double gallbladder and concomitant choledocholithiasis. The probable diagnosis of double gallbladder was made preoperatively by computed tomography. The patient underwent a successful open cholecystectomy and common bile duct exploration. In the second case, two cystic formations in the place of gallbladder are demonstrated with ultrasound scan in a woman with acute cholecystitis. At surgery, two gallbladders were found. A brief review of epidemiology and anatomy of double gallbladder is included, along with a discussion of the difficulties in diagnosis and treatment of this condition.

  7. Colonic duplication in an adult who presented with chronic constipation attributed to hypothyroidism

    Institute of Scientific and Technical Information of China (English)

    Tihomir Kekez; Goran Augustin; Irena Hrstic; Dubravko Smud; Mate Majerovic; Zeljko Jelincic; Emil Kinda

    2008-01-01

    Gastrointestinal duplications are an uncommon congenital abnormality that manifest before the age of two in 80% of cases. Heal duplication is the most common while colonic duplication, either cystic or tubular, occurs in 10%-15% of cases and remains asymptomatic and undiagnosed in most cases. Mostly occurring in pediatric patients, colonic duplication is encountered in adults in only a few cases. The most common clinical manifestations are abdominal pain and intestinal obstruction. Rarely, duplications present with signs of acute abdomen or acute bleeding. This study reports a case of colonic duplication in an adult who presented with chronic constipation. Complete diagnostic workup was made on several occasions during the previous eight year period, but no pathology was found and chronic constipation was attributed to hypothyroidism caused by long standing Hashimoto thyroiditis. Multislice CT, performed because of abdominal distension, defined colonic pathology but the definite diagnosis of duplication of the transversal colon was made at operation. The cystic duplication and the adjacent part of the ascending and transversal colon were excised en-block. This study implies that colonic duplication, though uncommon, should be included in the differential diagnosis of chronic constipation even when precipitating factors for constipation, such as hypothyroidism are present.

  8. Clinical Features and Differential Diagnosis of Acute Idio-pathic Blind Spot Enlargement Syndrome

    Institute of Scientific and Technical Information of China (English)

    Xiaocui Liu; Bing Chen; Maonian Zhang; Houbin Huang

    2014-01-01

    Purpose:.To study the clinical manifestations and the diag-nostic and differential diagnostic characteristics of acute idio-pathic blind spot enlargement syndrome (AIBSES).Methods:.Six patients diagnosed with AIBSES underwent complete eye examinations including fundus photography, fundus fluorescein angiography(FFA), indocyanine green an-giography (ICGA), optical coherence tomography (OCT), electroretinogram (ERG), and visual field examinations.Results: All patients had enlarged blind spots of variable sizes and densities..Three eyes had mild swelling of the optic disc and one eye had peripapillary scarring that corresponded to the permanent field defect. Two patients who underwent FFA had fluorescein leakage of blood vessels around the optic disc and ICGA highlighted diffuse, small hypofluorescent spots scatter-ing throughout the posterior pole..OCT showed that the inner and outer segment (IS / OS).line were absent in five patients and the middle cone outer segment tip line was absent in the nasal macular area in one eye.Conclusion: AIBSES is a rare outer retinopathy. Visual field examination and OCT are the most important means of detec-tion. ICGA and FAF can determine the range of lesions earli-er, and the progress of the disease should be taken into ac-count when making a diagnosis.(Eye Science 2014; 29:143-150)

  9. Brief report: postural reactivity to fast visual motion differentiates autistic from children with Asperger syndrome.

    Science.gov (United States)

    Gepner, Bruno; Mestre, Daniel R

    2002-06-01

    The aim of the present study was to search for a sensorimotor marker (i.e., visuopostural tuning) that could be correlated with the severity of motor impairments in children with autistic spectrum disorders. Given that autistic children were previously reported to be posturally hyporeactive to visually perceived environmental motion in comparison with normal control children (Gepner et al., 1995), we sought to determine whether children with Asperger syndrome (AS) would share the same postural hyporeactivity to visual motion. Three autistic children with mild to severe motor impairments, three AS children with soft motor signs, and nine normal control children were tested for overall postural instability and postural reactivity to environmental motion. Results indicate, first, that overall postural instability is significantly reduced in autistic children compared with both AS and normal children. Second, although postural oscillations in the fore-aft axis become more attuned to the oscillation frequency of an immersive dynamic visual display as visual speed is increased, in both control and AS subjects, this is not the case in autistic children. Despite the small number of subjects tested in this study, our data confirm the existence of a visuopostural detuning in autistic children. Third, they argue for a correlation between visuopostural tuning and severity of motor signs in children with autistic spectrum disorders. Finally, they suggest a differentiation between children with autism and children with AS with regard to postural reactivity to fast visual motion. Neurophysiological implications of these results are discussed. In particular, a visuocerebellar pathway deficit hypothesis in autism is proposed.

  10. Diurnal Plasma Cortisol Measurements Utility in Differentiating Various Etiologies of Endogenous Cushing Syndrome.

    Science.gov (United States)

    Tirosh, A; Lodish, M B; Papadakis, G Z; Lyssikatos, C; Belyavskaya, E; Stratakis, C A

    2016-09-01

    Cortisol diurnal variation may be abnormal among patients with endogenous Cushing syndrome (CS). The study objective was to compare the plasma cortisol AM/PM ratios between different etiologies of CS. This is a retrospective cohort study, conducted at a clinical research center. Adult patients with CS that underwent adrenalectomy or trans-sphenoidal surgery (n=105) were divided to those with a pathologically confirmed diagnosis of Cushing disease (n=21) and those with primary adrenal CS, including unilateral adrenal adenoma (n=28), adrenocortical hyperplasia (n=45), and primary pigmented nodular adrenocortical disease (PPNAD, n=11). Diurnal plasma cortisol measurements were obtained at 11:30 PM and midnight and at 7:30 and 8:00 AM. The ratios between the mean morning levels and mean late-night levels were calculated. Mean plasma cortisol AM/PM ratio was lower among CD patients compared to those with primary adrenal CS (1.4±0.6 vs. 2.3±1.5, p15 pg/ml) excludes CD with a 85.0% specificity and a negative predictive value (NPV) of 90.9%. Among patients with primary adrenal CS, an AM/PM cortisol≥1.2 had specificity and NPV of 100% for ruling out a diagnosis of PPNAD. Plasma cortisol AM/PM ratios are lower among patients with CD compared with primary adrenal CS, and may aid in the differential diagnosis of endogenous hypercortisolemia. © Georg Thieme Verlag KG Stuttgart · New York.

  11. CONTRIBUTION OF THE AUDIOLOGICAL AND VESTIBULAR ASSESSMENT TO THE DIFFERENTIAL AND ETIOLOGICAL DIAGNOSIS OF PERIPHERIC VESTIBULAR SYNDROMES

    Directory of Open Access Journals (Sweden)

    Loreta Ungureanu

    2012-09-01

    Full Text Available Scope of the study: Vestibular pathology is a complex one, requiring a minute clinical evaluation, as well as numerous paraclinical investigations. The present study analyzes the contribution of the modern methods of vestibular and auditive investigation to the diagnosis of dizziness. Materials and method: The results of the investigations performed on 84 patients with peripheric vestibular syndrome, on whom a complete audiological and vestibular assessment had been also made, have been retrospectively analyzed. Results: Anamnestic data and the results of evaluation permitted classification of peripheric vestibular pathology according to topo-lesional and etiological criteria. The most frequently diagnosed diseases were: benign paroxysmal positional vertigo, Ménière syndrome and vestibular neuronitis. Conclusions: Testing of the vestibulo-ocular and vestibulo-spinal reflexes through videonystagmoscopy and, respectively, computerized dynamic posturography, besides tonal vocal audiometry and precocious auditive potentials, is especially important for a positive diagnosis and etiological differentiation of vestibular syndromes.

  12. 20-Mb duplication of chromosome 9p in a girl with minimal physical findings and normal IQ: narrowing of the 9p duplication critical region to 6 Mb.

    Science.gov (United States)

    Bonaglia, Maria Clara; Giorda, Roberto; Carrozzo, Romeo; Roncoroni, Maria Elena; Grasso, Rita; Borgatti, Renato; Zuffardi, Orsetta

    2002-10-01

    We studied the case of a girl with a partial 9p duplication, dup(9)(p22.1 --> p13.1). Molecular cytogenetics studies defined the chromosome 9 rearrangement as a direct duplication of 20 Mb from D9S1213 to D9S52. Microsatellite analysis demonstrated the presence of a double dosage of the paternal alleles and demonstrated that the duplication occurred between sister chromatids. The patient's phenotype was almost normal, with a few minor anomalies (dolichocephaly, crowded teeth, high arched palate) and normal IQ. The breakpoint's location in this patient and previously reported cases suggest that the critical region for the 9p duplication syndrome lies within a 6-Mb portion of chromosome 9p22 between markers D9S267 and D9S1213.

  13. AMID: autonomous modeler of intragenic duplication.

    Science.gov (United States)

    Kummerfeld, Sarah K; Weiss, Anthony S; Fekete, Alan; Jermiin, Lars S

    2003-01-01

    Intragenic duplication is an evolutionary process where segments of a gene become duplicated. While there has been much research into whole-gene or domain duplication, there have been very few studies of non-tandem intragenic duplication. The identification of intragenically replicated sequences may provide insight into the evolution of proteins, helping to link sequence data with structure and function. This paper describes a tool for autonomously modelling intragenic duplication. AMID provides: identification of modularly repetitive genes; an algorithm for identifying repeated modules; and a scoring system for evaluating the modules' similarity. An evaluation of the algorithms and use cases are presented.

  14. THE DIFFERENTIATION SYNDROME IN PATIENTS WITH ACUTE PROMYELOCYTIC LEUKEMIA: EXPERIENCE OF THE PETHEMA GROUP AND REVIEW OF THE LITERATURE.

    Directory of Open Access Journals (Sweden)

    Pau Montesinos

    2011-12-01

    Full Text Available Differentiation syndrome (DS, formerly known as retinoic acid syndrome, is the main life-threatening complication of therapy with differentiating agents (all-trans retinoic acid [ATRA] or arsenic trioxide [ATO] in patients with acute promyelocytic leukemia (APL. The differentiation of leukemic blasts and promyelocytes induced by ATRA and/or ATO may lead to cellular migration, endothelial activation, and release of interleukins and vascular factors responsible of tissue damage. Roughly one quarter of patients with APL undergoing induction therapy will develop the DS, characterized by unexplained fever, acute respiratory distress with interstitial pulmonary infiltrates, and/or a vascular capillary leak syndrome leading to acute renal failure. Although the development of the DS, particularly of the severe form, is still associated with a significant increase in morbidity and mortality during induction, the early administration of high-dose dexamethasone at the onset of the first symptoms seems likely to have dramatically reduced the mortality rate of this complication. In this article, we will review the clinical features, incidence, prognostic factors, management, and outcome of the DS reported in the scientific literature. We will make focus in the experience of the three consecutive Programa Español de Tratamientos en Hematología trials (PETHEMA LPA96, LPA99, and LPA2005, in which more than one thousand patients were treated with ATRA plus idarubicin for induction.

  15. THE DIFFERENTIATION SYNDROME IN PATIENTS WITH ACUTE PROMYELOCYTIC LEUKEMIA: EXPERIENCE OF THE PETHEMA GROUP AND REVIEW OF THE LITERATURE.

    Directory of Open Access Journals (Sweden)

    Pau Montesinos

    2011-01-01

    Full Text Available

    Differentiation syndrome (DS, formerly known as retinoic acid syndrome, is the main life-threatening complication of therapy with differentiating agents (all-trans retinoic acid [ATRA] or arsenic trioxide [ATO] in patients with acute promyelocytic leukemia (APL. The differentiation of leukemic blasts and promyelocytes induced by ATRA and/or ATO may lead to cellular migration, endothelial activation, and release of interleukins and vascular factors responsible of tissue damage. Roughly one quarter of patients with APL undergoing induction therapy will develop the DS, characterized by unexplained fever, acute respiratory distress with interstitial pulmonary infiltrates, and/or a vascular capillary leak syndrome leading to acute renal failure. Although the development of the DS, particularly of the severe form, is still associated with a significant increase in morbidity and mortality during induction, the early administration of high-dose dexamethasone at the onset of the first symptoms seems likely to have dramatically reduced the mortality rate of this complication. In this article, we will review the clinical features, incidence, prognostic factors, management, and outcome of the DS reported in the scientific literature. We will make focus in the experience of the three consecutive Programa Español de Tratamientos en Hematología trials (PETHEMA LPA96, LPA99, and LPA2005, in which more than one thousand patients were treated with ATRA plus idarubicin for induction.

  16. Genomic evidence for adaptation by gene duplication.

    Science.gov (United States)

    Qian, Wenfeng; Zhang, Jianzhi

    2014-08-01

    Gene duplication is widely believed to facilitate adaptation, but unambiguous evidence for this hypothesis has been found in only a small number of cases. Although gene duplication may increase the fitness of the involved organisms by doubling gene dosage or neofunctionalization, it may also result in a simple division of ancestral functions into daughter genes, which need not promote adaptation. Hence, the general validity of the adaptation by gene duplication hypothesis remains uncertain. Indeed, a genome-scale experiment found similar fitness effects of deleting pairs of duplicate genes and deleting individual singleton genes from the yeast genome, leading to the conclusion that duplication rarely results in adaptation. Here we contend that the above comparison is unfair because of a known duplication bias among genes with different fitness contributions. To rectify this problem, we compare homologous genes from the budding yeast Saccharomyces cerevisiae and the fission yeast Schizosaccharomyces pombe. We discover that simultaneously deleting a duplicate gene pair in S. cerevisiae reduces fitness significantly more than deleting their singleton counterpart in S. pombe, revealing post-duplication adaptation. The duplicates-singleton difference in fitness effect is not attributable to a potential increase in gene dose after duplication, suggesting that the adaptation is owing to neofunctionalization, which we find to be explicable by acquisitions of binary protein-protein interactions rather than gene expression changes. These results provide genomic evidence for the role of gene duplication in organismal adaptation and are important for understanding the genetic mechanisms of evolutionary innovation.

  17. Chromosome I duplications in Caenorhabditis elegans

    Energy Technology Data Exchange (ETDEWEB)

    McKim, K.S.; Rose, A.M. (Univ. of British Columbia, Vancouver (Canada))

    1990-01-01

    We have isolated and characterized 76 duplications of chromosome I in the genome of Caenorhabditis elegans. The region studied is the 20 map unit left half of the chromosome. Sixty-two duplications were induced with gamma radiation and 14 arose spontaneously. The latter class was apparently the result of spontaneous breaks within the parental duplication. The majority of duplications behave as if they are free. Three duplications are attached to identifiable sequences from other chromosomes. The duplication breakpoints have been mapped by complementation analysis relative to genes on chromosome I. Nineteen duplication breakpoints and seven deficiency breakpoints divide the left half of the chromosome into 24 regions. We have studied the relationship between duplication size and segregational stability. While size is an important determinant of mitotic stability, it is not the only one. We observed clear exceptions to a size-stability correlation. In addition to size, duplication stability may be influenced by specific sequences or chromosome structure. The majority of the duplications were stable enough to be powerful tools for gene mapping. Therefore the duplications described here will be useful in the genetic characterization of chromosome I and the techniques we have developed can be adapted to other regions of the genome.

  18. Symmetrical Dose-Dependent DNA-Methylation Profiles in Children with Deletion or Duplication of 7q11.23.

    Science.gov (United States)

    Strong, Emma; Butcher, Darci T; Singhania, Rajat; Mervis, Carolyn B; Morris, Colleen A; De Carvalho, Daniel; Weksberg, Rosanna; Osborne, Lucy R

    2015-08-06

    Epigenetic dysfunction has been implicated in a growing list of disorders that include cancer, neurodevelopmental disorders, and neurodegeneration. Williams syndrome (WS) and 7q11.23 duplication syndrome (Dup7) are rare neurodevelopmental disorders with broad phenotypic spectra caused by deletion and duplication, respectively, of a 1.5-Mb region that includes several genes with a role in epigenetic regulation. We have identified striking differences in DNA methylation across the genome between blood cells from children with WS or Dup7 and blood cells from typically developing (TD) children. Notably, regions that were differentially methylated in both WS and Dup7 displayed a significant and symmetrical gene-dose-dependent effect, such that WS typically showed increased and Dup7 showed decreased DNA methylation. Differentially methylated genes were significantly enriched with genes in pathways involved in neurodevelopment, autism spectrum disorder (ASD) candidate genes, and imprinted genes. Using alignment with ENCODE data, we also found the differentially methylated regions to be enriched with CCCTC-binding factor (CTCF) binding sites. These findings suggest that gene(s) within 7q11.23 alter DNA methylation at specific sites across the genome and result in dose-dependent DNA-methylation profiles in WS and Dup7. Given the extent of DNA-methylation changes and the potential impact on CTCF binding and chromatin regulation, epigenetic mechanisms most likely contribute to the complex neurological phenotypes of WS and Dup7. Our findings highlight the importance of DNA methylation in the pathogenesis of WS and Dup7 and provide molecular mechanisms that are potentially shared by WS, Dup7, and ASD. Copyright © 2015 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

  19. Tubular Colonic Duplication Presenting as Rectovestibular Fistula.

    Science.gov (United States)

    Karkera, Parag J; Bendre, Pradnya; D'souza, Flavia; Ramchandra, Mukunda; Nage, Amol; Palse, Nitin

    2015-09-01

    Complete colonic duplication is a very rare congenital anomaly that may have different presentations according to its location and size. Complete colonic duplication can occur in about 15% of all gastrointestinal duplications. Double termination of tubular colonic duplication in the perineum is even more uncommon. We present a case of a Y-shaped tubular colonic duplication which presented with a rectovestibular fistula and a normal anus. Radiological evaluation and initial exploration for sigmoidostomy revealed duplicated colons with a common vascular supply. Endorectal mucosal resection of theduplicated distal segment till the colostomy site with division of the septum of the proximal segment and colostomy closure proved curative without compromise of the continence mechanism. Tubular colonic duplication should always be ruled out when a diagnosis of perineal canal is considered in cases of vestibular fistula alongwith a normal anus.

  20. Duplicability of self-interacting human genes.

    LENUS (Irish Health Repository)

    Pérez-Bercoff, Asa

    2010-01-01

    BACKGROUND: There is increasing interest in the evolution of protein-protein interactions because this should ultimately be informative of the patterns of evolution of new protein functions within the cell. One model proposes that the evolution of new protein-protein interactions and protein complexes proceeds through the duplication of self-interacting genes. This model is supported by data from yeast. We examined the relationship between gene duplication and self-interaction in the human genome. RESULTS: We investigated the patterns of self-interaction and duplication among 34808 interactions encoded by 8881 human genes, and show that self-interacting proteins are encoded by genes with higher duplicability than genes whose proteins lack this type of interaction. We show that this result is robust against the system used to define duplicate genes. Finally we compared the presence of self-interactions amongst proteins whose genes have duplicated either through whole-genome duplication (WGD) or small-scale duplication (SSD), and show that the former tend to have more interactions in general. After controlling for age differences between the two sets of duplicates this result can be explained by the time since the gene duplication. CONCLUSIONS: Genes encoding self-interacting proteins tend to have higher duplicability than proteins lacking self-interactions. Moreover these duplicate genes have more often arisen through whole-genome rather than small-scale duplication. Finally, self-interacting WGD genes tend to have more interaction partners in general in the PIN, which can be explained by their overall greater age. This work adds to our growing knowledge of the importance of contextual factors in gene duplicability.

  1. Syndrome Differentiation and Treatment Experience of Lichen Planus%扁平苔藓证治经验

    Institute of Scientific and Technical Information of China (English)

    周宝宽

    2011-01-01

    目的:总结周宝宽主任医师辨证论治扁平苔藓经验.方法:以医案形式阐述扁平苔藓的病因病机、证型、治法、方药.结果:病因病机为风湿热邪侵袭肌肤,阻滞经络;肝郁气滞,脾失健运,湿热火毒内生;肝肾阴虚,虚火上炎;内外因相合,蕴结肌肤;上述诸因阻于皮肤、黏膜导致肌肤失养形成风热相搏证、血虚风燥证、肝郁气滞证、阴虚内热等证.治疗原则为疏风、清热、利湿、解毒、疏肝、活血、化瘀、滋阴、降火等.常用方剂为消风散、逍遥散、当归饮子、知柏地黄汤.结论:辨证论治扁平苔藓疗效显著.%Objective: To summarize syndrome differentiation and treatment experience of lichen planus in clinic. Methods: Discuss etiopathogenisis, pathogenesis, pattern of syndrome, method of treatment, formulas and tnedicinals based on medical records. Results : Etiopathogenisis and pathogenesis of lichen planus are wind dampness and heat injury muscle and skin, blocked on meridians; stagnation of QI due to depression of the liver, dys-splenism, damp-heat and virulent fire produced from the interior; hepatic and renal yin deficiency, hyperactivity of deficient fire;coincide of exterior and interior evil, gathering on muscle and skin; those causes blocked in skin and blocked result in failure of skin and muscle to be nourished, generate syndrome of wind-heat fighting, syndrome of blood deficiency wind-dryness syndrome, syndrome of stagnation of QI due to depression of the liver, syndrome of yin asthenia generating intrinsic heat. Treatment principles of lichen planus are, eliminating wind,eliminating heat, damp elimination, neutralize poison, disperse the depressed liver-energy, promoting blood flow, resolve stasis, nourish yin, downbear fire, etc. Frequently used decoction is Xaiofeng Yin, Danggui Yinzi, Zhibai Dihaung Tang. Conclusions:Syndrome differentiation and treatment shows a better therapeutic effect for lichen planus.

  2. Syndrome Differentiation and Treatment Experience of Alopecia Areata%审证求因治疗斑秃

    Institute of Scientific and Technical Information of China (English)

    周宝宽

    2011-01-01

    Objective:To summarize syndrome differentiation and treatment experience of alopecia areata in clinic. Methods : Discuss etiopathogenisis, pathogenesis, pattern of syndrome, method of treatment, formulas and medicinals based on medical records. Results: Etiopathogenisis and pathogenesis of alopecia areata include fire-syndrome resulting from depression, or peacetime calor internus, heat in blood wind generating wind result in blood heat wind-dryness syndrome; stagnation of QI due to depression of the liver, macronosia blood stasis, obstruction of collaterals by blood stasis result in syndrome of qi-stagnancy and blood stasis; spleen and stomach damage, macronosia result in deficiency of both QI and blood, blood not nurshing hairs result in syndrome of deficiency of both QI and blood; macronosia result in deficiency of liver and kidey, blood not nurshing hairs result in syndrome of deficiency of liver and kidey. Frequently used decoction is Liangxue Xiaofeng San, Tongqiao Huoxue Tang, Renshen Yangrong Tang, Qibao Meiran Dan. Conclusions : Syndrome differentiation and treatment shows a better therapeutic effect for alopecia areata.%目的:总结周宝宽主任医师辨证论治斑秃经验.方法:以医案形式阐述斑秃的病因病机、证型、治法、方药.结果:斑秃病因病机为抑郁化火,或素体内热,血热生风形成血热风燥证;肝郁气滞,或久病成瘀,瘀血阻络形成气滞血瘀证;脾胃损伤,或久病气血两虚,血不养发形成气血两虚证;病程日久,肝肾亏虚,血不养发形成肝肾不足证.常用方药为凉血消风散、通窍活血汤、人参养荣汤、七宝美髯丹.结论:辨证论治斑秃疗效显著.

  3. Saethre-Chotzen syndrome caused by TWIST 1 gene mutations: functional differentiation from Muenke coronal synostosis syndrome.

    Science.gov (United States)

    Kress, Wolfram; Schropp, Christian; Lieb, Gabriele; Petersen, Birgit; Büsse-Ratzka, Maria; Kunz, Jürgen; Reinhart, Edeltraut; Schäfer, Wolf-Dieter; Sold, Johanna; Hoppe, Florian; Pahnke, Jan; Trusen, Andreas; Sörensen, Niels; Krauss, Jürgen; Collmann, Hartmut

    2006-01-01

    The Saethre-Chotzen syndrome (SCS) is an autosomal dominant craniosynostosis syndrome with uni- or bilateral coronal synostosis and mild limb deformities. It is caused by loss-of-function mutations of the TWIST 1 gene. In an attempt to delineate functional features separating SCS from Muenke's syndrome, we screened patients presenting with coronal suture synostosis for mutations in the TWIST 1 gene, and for the Pro250Arg mutation in FGFR3. Within a total of 124 independent pedigrees, 39 (71 patients) were identified to carry 25 different mutations of TWIST 1 including 14 novel mutations, to which six whole gene deletions were added. The 71 patients were compared with 42 subjects from 24 pedigrees carrying the Pro250Arg mutation in FGFR3 and 65 subjects from 61 pedigrees without a detectable mutation. Classical SCS associated with a TWIST 1 mutation could be separated phenotypically from the Muenke phenotype on the basis of the following features: low-set frontal hairline, gross ptosis of eyelids, subnormal ear length, dilated parietal foramina, interdigital webbing, and hallux valgus or broad great toe with bifid distal phalanx. Functional differences were even more important: intracranial hypertension as a consequence of early progressive multisutural fusion was a significant problem in SCS only, while mental delay and sensorineural hearing loss were associated with the Muenke's syndrome. Contrary to previous reports, SCS patients with complete loss of one TWIST allele showed normal mental development.

  4. Narrow, duplicated internal auditory canal

    Energy Technology Data Exchange (ETDEWEB)

    Ferreira, T. [Servico de Neurorradiologia, Hospital Garcia de Orta, Avenida Torrado da Silva, 2801-951, Almada (Portugal); Shayestehfar, B. [Department of Radiology, UCLA Oliveview School of Medicine, Los Angeles, California (United States); Lufkin, R. [Department of Radiology, UCLA School of Medicine, Los Angeles, California (United States)

    2003-05-01

    A narrow internal auditory canal (IAC) constitutes a relative contraindication to cochlear implantation because it is associated with aplasia or hypoplasia of the vestibulocochlear nerve or its cochlear branch. We report an unusual case of a narrow, duplicated IAC, divided by a bony septum into a superior relatively large portion and an inferior stenotic portion, in which we could identify only the facial nerve. This case adds support to the association between a narrow IAC and aplasia or hypoplasia of the vestibulocochlear nerve. The normal facial nerve argues against the hypothesis that the narrow IAC is the result of a primary bony defect which inhibits the growth of the vestibulocochlear nerve. (orig.)

  5. Ciliopathy is differentially distributed in the brain of a Bardet-Biedl syndrome mouse model.

    Directory of Open Access Journals (Sweden)

    Khristofor Agassandian

    Full Text Available Bardet-Biedl syndrome (BBS is a genetically heterogeneous inherited human disorder displaying a pleotropic phenotype. Many of the symptoms characterized in the human disease have been reproduced in animal models carrying deletions or knock-in mutations of genes causal for the disorder. Thinning of the cerebral cortex, enlargement of the lateral and third ventricles, and structural changes in cilia are among the pathologies documented in these animal models. Ciliopathy is of particular interest in light of recent studies that have implicated primary neuronal cilia (PNC in neuronal signal transduction. In the present investigation, we tested the hypothesis that areas of the brain responsible for learning and memory formation would differentially exhibit PNC abnormalities in animals carrying a deletion of the Bbs4 gene (Bbs4-/-. Immunohistochemical localization of adenylyl cyclase-III (ACIII, a marker restricted to PNC, revealed dramatic alterations in PNC morphology and a statistically significant reduction in number of immunopositive cilia in the hippocampus and amygdala of Bbs4-/- mice compared to wild type (WT littermates. Western blot analysis confirmed the decrease of ACIII levels in the hippocampus and amygdala of Bbs4-/- mice, and electron microscopy demonstrated pathological alterations of PNC in the hippocampus and amygdala. Importantly, no neuronal loss was found within the subregions of amygdala and hippocampus sampled in Bbs4-/- mice and there were no statistically significant alterations of ACIII immunopositive cilia in other areas of the brain not known to contribute to the BBS phenotype. Considered with data documenting a role of cilia in signal transduction these findings support the conclusion that alterations in cilia structure or neurochemical phenotypes may contribute to the cognitive deficits observed in the Bbs4-/- mouse mode.

  6. Faecal calprotectin as a novel biomarker for differentiating between inflammatory bowel disease and irritable bowel syndrome.

    Science.gov (United States)

    Chang, Ming-Hui; Chou, Jen-Wei; Chen, Shan-Ming; Tsai, Ming-Chang; Sun, Yu-Shu; Lin, Chun-Che; Lin, Ching-Pin

    2014-07-01

    The present study aimed to investigate faecal calprotectin as a diagnostic marker to differentiate between patients with inflammatory bowel disease (IBD) and those with irritable bowel syndrome (IBS). A total of 20 healthy control subjects, 26 patients with IBS and 58 patients with IBD, including 22 with ulcerative colitis (UC) and 36 with Crohn's disease (CD), were recruited for the present study. Calprotectin was analysed in stool samples, and C-reactive protein (CRP) and the erythrocyte sedimentation rate (ESR) were assessed in blood samples. CRP and calprotectin levels, and the ESR were observed to be significantly higher in patients with CD and UC compared with those of the healthy control subjects (Pcalprotectin and CRP levels were observed (694.8±685.0 µg/g in IBD vs. 85.8±136.1 µg/g in IBS and 0.851±1.200 mg/dl in IBD vs. 0.16±0.23 mg/dl in IBS, respectively; Pcalprotectin [0.931±0.029; 95% confidence interval (CI), 0.874‑0.987] were significantly higher than that of CRP (0.865±0.041; 95% CI, 0.785‑0.946) and the ESR (0.869±0.042; 95% CI, 0.786‑0.952). These findings indicate that faecal calprotectin may represent a novel biomarker for diagnosing IBD and may be effective in distinguishing between IBD and IBS.

  7. Differential contribution of dietary fat and monosaccharide to metabolic syndrome in the common marmoset (Callithrix jacchus).

    Science.gov (United States)

    Wachtman, Lynn M; Kramer, Joshua A; Miller, Andrew D; Hachey, Audra M; Curran, Elizabeth H; Mansfield, Keith G

    2011-06-01

    There is a critical need for animal models to study aspects type 2 diabetes (T2D) pathogenesis and prevention. While the rhesus macaque is such an established model, the common marmoset has added benefits including reduced zoonotic risks, shorter life span, and a predisposition to birth twins demonstrating chimerism. The marmoset as a model organism for the study of metabolic syndrome has not been fully evaluated. Marmosets fed high-fat or glucose-enriched diets were followed longitudinally to observe effects on morphometric and metabolic measures. Effects on pancreatic histomorphometry and vascular pathology were examined terminally. The glucose-enriched diet group developed an obese phenotype and a prolonged hyperglycemic state evidenced by a rapid and persistent increase in mean glycosylated hemoglobin (HgbA1c) observed as early as week 16. In contrast, marmosets fed a high-fat diet did not maintain an obese phenotype and demonstrated a delayed increase in HgbA1) that did not reach statistical significance until week 40. Consumption of either diet resulted in profound pancreatic islet hyperplasia suggesting a compensation for increased insulin requirements. Although the high-fat diet group developed atherosclerosis of increased severity, the presence of lesions correlated with glucose intolerance only in the glucose-enriched diet group. The altered timing of glucose dysregulation, differential contribution to obesity, and variation in vascular pathology suggests mechanisms of effect specific to dietary nutrient content. Feeding nutritionally modified diets to common marmosets recapitulates aspects of metabolic disease and represents a model that may prove instrumental to elucidating the contribution of nutrient excess to disease development.

  8. Study on the Relationship between Insulin-Resistance and Syndrome Differentiation Typing in Hypertension Patients

    Institute of Scientific and Technical Information of China (English)

    刘惠文; 张铁忠; 李光伟; 姜亚云

    2001-01-01

    Objective:To find the relationship between insulin-resistance and Syndrome Differentiation type (SDT) in hypertensive patients.Methods: Two hundred and nine patients of early stage hypertention with no complications of heart, brain or kidney were selected and classified into 4 types according to SDT, the Liver-Fire exuberant type (A), the Phlegm-Dampness abundant type (B), the Yin-Deficiency and Yang-Excess type (C) and the Deficiency of both Yin and Yang type (D). Their insulin sensitivity was examined and compared with that of 40 healthy subjects.Results:(1) Compared with the healthy subjects, all hypertensive patients had apparent insulin resistance (P<0.05).If the insulin sensitivity of healthy subjects was defined as 1.00, that of patients of type A, B, C and D were 0.54, 0.58, 0.65 and 0.80 respectively. (2) The insulin sensitivity of patients in the 4 SDT groups were compared and no significant difference was found in comparison between group A, B and C, while significant difference was found when the other three groups were compared with group D (P<0.05), the insulin sensitivity of type D was close to that of the healthy subjects. (3) The fasting blood insulin of type D was obviously lower and the insulin sensitivity of type D was obviously higher than that of the other three types as a whole (P=0.0001). (4) Multivariate regression analysis demonstrated that insulin sensitivity was closely correlated with SDT (P=0.0001). Conclusion: Insulin resistance is one of the pathological basis for SDT in hypertension.

  9. Detecting long tandem duplications in genomic sequences

    Directory of Open Access Journals (Sweden)

    Audemard Eric

    2012-05-01

    Full Text Available Abstract Background Detecting duplication segments within completely sequenced genomes provides valuable information to address genome evolution and in particular the important question of the emergence of novel functions. The usual approach to gene duplication detection, based on all-pairs protein gene comparisons, provides only a restricted view of duplication. Results In this paper, we introduce ReD Tandem, a software using a flow based chaining algorithm targeted at detecting tandem duplication arrays of moderate to longer length regions, with possibly locally weak similarities, directly at the DNA level. On the A. thaliana genome, using a reference set of tandem duplicated genes built using TAIR,a we show that ReD Tandem is able to predict a large fraction of recently duplicated genes (dS  Conclusions ReD Tandem allows to identify large tandem duplications without any annotation, leading to agnostic identification of tandem duplications. This approach nicely complements the usual protein gene based which ignores duplications involving non coding regions. It is however inherently restricted to relatively recent duplications. By recovering otherwise ignored events, ReD Tandem gives a more comprehensive view of existing evolutionary processes and may also allow to improve existing annotations.

  10. Geng Jianguo's Experiences in Syndrome Differentiation%耿建国寒热辨证经验举隅

    Institute of Scientific and Technical Information of China (English)

    崔民英; 朱智耀; 耿建国

    2015-01-01

    耿建国教授提倡继承中医辨证论治思维,学术上法于仲景,师古而不泥于古,强调从整体上把握病家的阴阳盛衰、寒热虚实变化,强调上下两纲在辨证论治过程中的重要性,立法处方则以调整阴阳平衡为根本法则,因而能执简驭繁,卓有疗效。耿建国教授认为,临床辨证论治应当以阴阳为总纲,通过四诊合参,分析病家的寒热、虚实、上下等方面的属性,来归纳阴阳的变化,从而使阴阳由抽象到具体,再由具体到抽象。%Professor Geng advocates to inherit traditional thoughts of syndrome differentia-tion. His theory comes from Zhongjing but not limited by him. He emphasizes on differentiating the variation of Yin and Yang,cold and hot,asthenia and sthenia. He also emphasizes on the importance of basic program up and down in syndrome differentiation. He holds that regulating the yin - yang balance is the cardinal prin-ciple for prescription,which can help us to solve complex problems in a simple but efficient way. Professor Geng Jianguo puts forward Yin and Yang as the basic target in syndrome differentiation. Gathering information of cold and hot,asthenia and sthenia,up and down from patients by the Four Diagnostics,analyzing and indu-cing the change of Yin and Yang maKe the concretization of Yin and Yang,and also the abstraction for it. In this paper,some of Professor Geng Jianguo's experiences in syndrome differentiation are summarized,inclu-ding classical theories and clinical examples,which showed how to analyze and induce the change of yin and yang by differentiating cold and hot,asthenia and sthenia,up and down from patients.

  11. Delusional misidentifications and duplications: right brain lesions, left brain delusions.

    Science.gov (United States)

    Devinsky, Orrin

    2009-01-01

    When the delusional misidentification syndromes reduplicative paramnesia and Capgras syndromes result from neurologic disease, lesions are usually bifrontal and/or right hemispheric. The related disorders of confabulation and anosognosis share overlapping mechanisms and anatomic pathology. A dual mechanism is postulated for the delusional misidentification syndromes: negative effects from right hemisphere and frontal lobe dysfunction as well as positive effects from release (i.e., overactivity) of preserved left hemisphere areas. Negative effects of right hemisphere injury impair self-monitoring, ego boundaries, and attaching emotional valence and familiarity to stimuli. The unchecked left hemisphere unleashes a creative narrator from the monitoring of self, memory, and reality by the frontal and right hemisphere areas, leading to excessive and false explanations. Further, the left hemisphere's cognitive style of categorization, often into dual categories, leads it to invent a duplicate or impostor to resolve conflicting information. Delusions result from right hemisphere lesions. But it is the left hemisphere that is deluded.

  12. Evolution of vertebrate central nervous system is accompanied by novel expression changes of duplicate genes.

    Science.gov (United States)

    Chen, Yuan; Ding, Yun; Zhang, Zuming; Wang, Wen; Chen, Jun-Yuan; Ueno, Naoto; Mao, Bingyu

    2011-12-20

    The evolution of the central nervous system (CNS) is one of the most striking changes during the transition from invertebrates to vertebrates. As a major source of genetic novelties, gene duplication might play an important role in the functional innovation of vertebrate CNS. In this study, we focused on a group of CNS-biased genes that duplicated during early vertebrate evolution. We investigated the tempo-spatial expression patterns of 33 duplicate gene families and their orthologs during the embryonic development of the vertebrate Xenopus laevis and the cephalochordate Brachiostoma belcheri. Almost all the identified duplicate genes are differentially expressed in the CNS in Xenopus embryos, and more than 50% and 30% duplicate genes are expressed in the telencephalon and mid-hindbrain boundary, respectively, which are mostly considered as two innovations in the vertebrate CNS. Interestingly, more than 50% of the amphioxus orthologs do not show apparent expression in the CNS in amphioxus embryos as detected by in situ hybridization, indicating that some of the vertebrate CNS-biased duplicate genes might arise from non-CNS genes in invertebrates. Our data accentuate the functional contribution of gene duplication in the CNS evolution of vertebrate and uncover an invertebrate non-CNS history for some vertebrate CNS-biased duplicate genes. Copyright © 2011. Published by Elsevier Ltd.

  13. Summary of differentiation and treating on spleen Yin deficiency syndrome%脾阴虚证辨治概要

    Institute of Scientific and Technical Information of China (English)

    王军瑞

    2011-01-01

    针对中医脾病辨证中对脾阴的认识不足,以中医理论为基础,就脾阴的理论源流、病因病机、证候特点、类证鉴别及治疗方药等加以阐述,旨在说明脾阴脾阳同等重要,脾阴虚与脾气虚、胃阴虚不可混淆,并在一定程度上证明脾阴虚的发生确有其病理学基础.%Aiming at the recognition insufficient about spleen yin in the disease syndrome differentiation of TCM and on the basis of TCM theory this article explained the theoretical origin and development, etiology and pathogenesis, syndrome characteristic, similar syndrome differentiation and treating herbs for spleen yin. It was suggested that spleen yin and spleen yang had an equal important role and confusion could not performed between spleen yin deficiency, spleen Qi deficiency and stomach yin deficiency. In some extent, demonstration the occurrence of spleen yin deficiency had its pathologic foundation indeed.

  14. Prenatal diagnosis of foetuses with congenital abnormalities and duplication of the MECP2 region.

    Science.gov (United States)

    Fu, Fang; Liu, Huan-ling; Li, Ru; Han, Jin; Yang, Xin; Min, Pan; Zhen, Li; Zhang, Yong-ling; Xie, Gui-e; Lei, Ting-ying; Li, Yan; Li, Jian; Li, Dong-zhi; Liao, Can

    2014-08-10

    MECP2 duplication results in a well-recognised syndrome in 100% of affected male children; this syndrome is characterised by severe neurodevelopmental disabilities and recurrent infections. However, no sonographic findings have been reported for affected foetuses, and prenatal molecular diagnosis has not been possible for this disease due to lack of prenatal clinical presentation. In this study, we identified a small duplication comprising the MECP2 and L1CAM genes in the Xq28 region in a patient from a family with severe X-linked mental retardation and in a prenatal foetus with brain structural abnormalities. Using high-resolution chromosome microarray analysis (CMA) to screen 108 foetuses with congenital structural abnormalities, we identified additional three foetuses with the MECP2 duplication. Our study indicates that ventriculomegaly, hydrocephalus, agenesis of the corpus callosum, choroid plexus cysts, foetal growth restriction and hydronephrosis might be common ultrasound findings in prenatal foetuses with the MECP2 duplication and provides the first set of prenatal cases with MECP2 duplication, the ultrasonographic phenotype described in these patients will help to recognise the foetuses with possible MECP2 duplication and prompt the appropriate molecular testing.

  15. KBP interacts with SCG10, linking Goldberg-Shprintzen syndrome to microtubule dynamics and neuronal differentiation

    NARCIS (Netherlands)

    Alves, Maria M.; Burzynski, Grzegorz; Delalande, Jean-Marie; Osinga, Jan; Goot, Annemieke van der; Dolga, Amalia; Graaff, Esther de; Brooks, Alice S.; Metzger, Marco; Eisel, Ulrich L.M.; Shepherd, Iain; Eggen, Bart J.L.; Hofstra, Robert M.W.

    2010-01-01

    Goldberg-Shprintzen syndrome (GOSHS) is a rare clinical disorder characterized by central and enteric nervous system defects. This syndrome is caused by inactivating mutations in the Kinesin Binding Protein (KBP) gene, which encodes a protein of which the precise function is largely unclear. We show

  16. Differential Impact of the "FMR1" Gene on Visual Processing in Fragile X Syndrome

    Science.gov (United States)

    Kogan, Cary S.; Boutet, Isabelle; Cornish, Kim; Zangenehpour, Shahin; Mullen, Kathy T.; Holden, Jeanette J. A.; Kaloustian, Vazken M. Der; Andermann, Eva; Chaudhuri, Avi

    2004-01-01

    Fragile X syndrome (FXS) is the most common form of heritable mental retardation, affecting (~ around) 1 in 4000 males. The syndrome arises from expansion of a trinucleotide repeat in the 5'-untranslated region of the fragile X mental retardation 1 ("FMR1") gene, leading to methylation of the promoter sequence and lack of the fragile X mental…

  17. Churg-Strauss vasculitis and idiopathic hypereosinophyl syndrome: role of molecular biology in the differential diagnosis of hypereosinophyl syndrome

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    A. d'Ascanio

    2011-09-01

    Full Text Available Objective: Hypereosinophilic syndromes are a heterogeneous group of uncommon disorders characterized by the presence of marked peripheral blood eosinophilia, tissue eosinophilia, or both, resulting in a wide variety of clinical manifestations, often without an identifiable cause. Churg-Strauss syndrome is a systemic vasculitis characterized by prominent peripheral eosinophilia, asthma and systemic involvement. The presence of mild to severe eosinophilia and systemic involvement raise the search of many trigger factor that need to be ruled out. Distinguishing CSS from idiopathic hypereosinophilic syndrome may be particularly challenging, especially in ANCA negative patients. Methods: The aim of the present study was to present a small case series of patients referred to a Rheumatology Unit for mild to severe eosinophilia and signs and symptoms of systemic involvement and to outline the clinical significance of molecular biology in the work-up of hypereosinophilia. Results: Eleven patients with moderate to severe peripheral eosinophylia, were referred to our Unit from 1996 to 2007. Female to male ratio was 7/4, mean age 40.54 (range 22-75. Three out of eleven patients resulted positive for molecular biology. The diagnosis of idiopathic hypereosinophylia was confirmed in one out of three on the basis of the clinical picture and bone marrow biopsy. Conclusions: Molecular biology may be useful in the screening and in the follow-up of a new hypereosinophylic patient.

  18. Report on 3 patients with 12p duplication including GRIN2B.

    Science.gov (United States)

    Poirsier, Celine; Landais, Emilie; Bednarek, Nathalie; Nobecourt, Jean-Marie; Khoury, Maroun; Schmidt, Pascal; Morville, Patrice; Gruson, Nadine; Clomes, Sandrine; Michel, Nicole; Riot, Anita; Manjeongean, Christelle; Gaillard, Dominique; Doco-Fenzy, Martine

    2014-04-01

    The duplication of the short arm (p) of chromosome 12 is a rare chromosomal abnormality, and most reported cases result from malsegregation of a balanced parental translocation associated with other chromosomal imbalances. Of the reported cases, only 15 involve a pure and complete 12p duplication and only 10 involve a pure and partial duplication overlapping the 12p12.3p13.1 region, including a single instance of an inherited duplication in two related individuals. Here, we report three new patients with a pure 12p duplication, detected by conventional cytogenetic studies and characterized by array-comparative genomic hybridization (array-CGH) and fluorescence in situ hybridization (FISH). The first patient was a child carrying a de novo inverted duplication of the short arm of chromosome 12. His phenotype was similar to that of the "trisomy 12p syndrome", characterized by developmental delays and craniofacial abnormalities including a high forehead, a short nose with anteverted nostrils and an everted lower lip. The second and third patients were a mother and son with a direct 12p12.3p13.1 duplication, exhibiting a milder phenotype characterized by moderate developmental delays, dysmorphic facial features, behavioral problems and obesity. The present data, including the rarity of the familial cases, should contribute to our knowledge of the genotype/phenotype correlation in trisomy 12p patients.

  19. The combinatorics of tandem duplication trees.

    Science.gov (United States)

    Gascuel, Olivier; Hendy, Michael D; Jean-Marie, Alain; McLachlan, Robert

    2003-02-01

    We developed a recurrence relation that counts the number of tandem duplication trees (either rooted or unrooted) that are consistent with a set of n tandemly repeated sequences generated under the standard unequal recombination (or crossover) model of tandem duplications. The number of rooted duplication trees is exactly twice the number of unrooted trees, which means that on average only two positions for a root on a duplication tree are possible. Using the recurrence, we tabulated these numbers for small values of n. We also developed an asymptotic formula that for large n provides estimates for these numbers. These numbers give a priori probabilities for phylogenies of the repeated sequences to be duplication trees. This work extends earlier studies where exhaustive counts of the numbers for small n were obtained. One application showed the significance of finding that most maximum-parsimony trees constructed from repeat sequences from human immunoglobins and T-cell receptors were tandem duplication trees. Those findings provided strong support to the proposed mechanisms of tandem gene duplication. The recurrence relation also suggests efficient algorithms to recognize duplication trees and to generate random duplication trees for simulation. We present a linear-time recognition algorithm.

  20. Differential Expression of microRNAs in the Ovaries from Letrozole-Induced Rat Model of Polycystic Ovary Syndrome.

    Science.gov (United States)

    Li, Dandan; Li, Chunjin; Xu, Ying; Xu, Duo; Li, Hongjiao; Gao, Liwei; Chen, Shuxiong; Fu, Lulu; Xu, Xin; Liu, Yongzheng; Zhang, Xueying; Zhang, Jingshun; Ming, Hao; Zheng, Lianwen

    2016-04-01

    Polycystic ovary syndrome (PCOS) is a complex and heterogeneous endocrine disorder. To understand the pathogenesis of PCOS, we established rat models of PCOS induced by letrozole and employed deep sequencing to screen the differential expression of microRNAs (miRNAs) in PCOS rats and control rats. We observed vaginal smear and detected ovarian pathological alteration and hormone level changes in PCOS rats. Deep sequencing showed that a total of 129 miRNAs were differentially expressed in the ovaries from letrozole-induced rat model compared with the control, including 49 miRNAs upregulated and 80 miRNAs downregulated. Furthermore, the differential expression of miR-201-5p, miR-34b-5p, miR-141-3p, and miR-200a-3p were confirmed by real-time polymerase chain reaction. Bioinformatic analysis revealed that these four miRNAs were predicted to target a large set of genes with different functions. Pathway analysis supported that the miRNAs regulate oocyte meiosis, mitogen-activated protein kinase (MAPK) signaling, phosphoinositide 3-kinase/Akt (PI3K-Akt) signaling, Rap1 signaling, and Notch signaling. These data indicate that miRNAs are differentially expressed in rat PCOS model and the differentially expressed miRNA are involved in the etiology and pathophysiology of PCOS. Our findings will help identify miRNAs as novel diagnostic markers and therapeutic targets for PCOS.

  1. 抑郁证辨证分型研究%Research on Syndrome Differentiation and Classification of Depression

    Institute of Scientific and Technical Information of China (English)

    彭计红; 张同远; 梅晓云

    2011-01-01

    目的:探讨抑郁症临床的辨证分型.方法:从循证医学角度把抑郁症的中医辨证分型研究与临床流行病学及医学统计学接轨,运用聚类分析方法,结合专业知识,对所有调查资料进行分型研究.结果:抑郁症临床可分为肝气郁结、心神抑郁型;痰瘀交阻、阴虚神郁型;肝郁化火、心神被扰型;脾气亏虚、心神失养型;心阴不足,虚火内扰型;心血亏虚、气机郁结型6种主要证型.结论:6类主要证型的划分可使抑郁症辨证分型更客观、明了,临床实践也更有可操作性.%Objective:To explore the clinical syndrome differentiation and classification of depression. Methods:To integrate the TCM syndrome differentiation research of depression with clinical epidemiology and medical statistics from the perspective of evidence - based medicine and use the method of cluster analysis combined with professional knowledge. All surveyed data were classified and researched. Results:Clinically,depression can be divided into six major syndromes,namly liver qi stagnation and mind depression type; the stagnation of phlegm and stasis and yin deficiency and mind depression type;fire caused by liver stagnation and mind disturbance type; spleen qi deficiency and mind dystrophy type; heart yin deficiency and internal disturbance of deficiency - fire type; heart blood deficiency and stagnation of qi type. Conclusion: The division of six major syndromes makes the syndrome differentiation of depression to be more objective and clear and facilitates the maneuverability of clinical practice.

  2. Prenatal Diagnosis of Treacher-Collins Syndrome Using Three-Dimensional Ultrasonography and Differential Diagnosis with Other Acrofacial Dysostosis Syndromes

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    Daniela Cardoso Pereira

    2013-01-01

    Full Text Available Treacher-Collins syndrome (TCS is a rare dominant autosomal anomaly resulting from malformation or disruption of the development of the first and second branchial arches. It is characterized by micrognathia, malar hypoplasia, and malformations of the eyes and ears. The prenatal diagnosis using two-dimensional ultrasonography (2DUS is characterized by identification of facial malformations together with polyhydramnios. Three-dimensional ultrasonography (3DUS has the capacity to spatially display these facial malformations, thus making it easy for the parents to understand them. We present a case of TCS diagnosed in the 33rd week using 3DUS, with postnatal confirmation using cranial computed tomography and anatomopathological analysis.

  3. Prenatal diagnosis of treacher-collins syndrome using three-dimensional ultrasonography and differential diagnosis with other acrofacial dysostosis syndromes.

    Science.gov (United States)

    Pereira, Daniela Cardoso; Bussamra, Luiz Claudio Silva; Araujo Júnior, Edward; Drummond, Carolina Leite; Nardozza, Luciano Marcondes Machado; Moron, Antonio Fernandes; Aldrighi, José Mendes

    2013-01-01

    Treacher-Collins syndrome (TCS) is a rare dominant autosomal anomaly resulting from malformation or disruption of the development of the first and second branchial arches. It is characterized by micrognathia, malar hypoplasia, and malformations of the eyes and ears. The prenatal diagnosis using two-dimensional ultrasonography (2DUS) is characterized by identification of facial malformations together with polyhydramnios. Three-dimensional ultrasonography (3DUS) has the capacity to spatially display these facial malformations, thus making it easy for the parents to understand them. We present a case of TCS diagnosed in the 33rd week using 3DUS, with postnatal confirmation using cranial computed tomography and anatomopathological analysis.

  4. Histologic and immunohistochemical characteristics of cutaneous cysts in Goltz-Gorlin syndrome: clues for differentiation of nonsyndromic cysts.

    Science.gov (United States)

    Tirado, Mariantonieta; Ständer, Sonja; Metze, Dieter

    2014-11-01

    Goltz-Gorlin syndrome presents with multiple basal cell carcinomas, odontogenic keratocysts, and cutaneous cysts, among other manifestations. The cutaneous cysts have been described as both epidermoid cysts and keratocysts but were not further characterized. Light microscopic examinations were made on 23 cutaneous cysts in 4 patients associated with Goltz-Gorlin syndrome located on extremities, face, trunk, palms, and soles and compared with nonsyndromic vellus hair cysts, steatocystomas, and hybrid cysts. Twenty-one of the syndromic cysts revealed alternating infundibular-like and steatocystoma-like squamous epitheliums in varying proportions. The cysts were lined by both smooth and corrugated squamous epithelium. The horny layer was composed by alternating areas of thin, lamellate, and compact eosinophilic keratin. Only 2 cases showed an exclusive steatocystoma-like type of epithelium very similar to odontogenic keratocysts. Sebaceous glands and follicular structures were absent. There were no differences between palmar and plantar cysts and other anatomic locations. The ultrastructural findings in syndromatic cysts confirmed variable expression of keratohyalin granules. Only 3 of 6 cases of nonsyndromic hybrid cysts showed overlapping features with syndromic cysts. Immunohistochemical profiling of keratin, involucrin, filaggrin, loricrin, and BCL-2 expression in syndromatic cysts showed exclusive positivity of K19 and continuous staining for BCL-2. In summary, 2 types of cutaneous cysts are characteristic of Goltz-Gorlin, irrelevant of their anatomic location, namely steatocystoma-like and more frequently hybrid-like. The diagnosis of syndromic hybrid-like cysts should be considered whenever infundibular and steatocystoma differentiation alternate and overlap. Altogether, these findings in epithelial cysts may raise the suspicion of Goltz-Gorlin as an underlying cause.

  5. An Approach to Differential Diagnosis of Antiphospholipid Antibody Syndrome and Related Conditions

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    Giacomo Emmi

    2014-01-01

    Full Text Available The antiphospholipid antibody syndrome is a systemic, acquired, immune-mediated disorder characterized by episodes of venous, arterial, or microcirculation thrombosis and/or pregnancy abnormalities, associated with the persistent presence of autoantibodies, confirmed at least in two occasions 12 weeks apart, directed to molecular complexes consisting of phospholipids and proteins. Antiphospholipid antibody syndrome should always be considered as a potential diagnosis especially for young patients presenting with a history of thrombotic events, in particular when they occur without any obvious external trigger or any inherited thrombophilic mutation (even if 2006 criteria do not exclude antiphospholipid antibody syndrome in patients with other inherited or acquired prothrombotic conditions, or for women with recurrent pregnancy losses or later fetal deaths. Many other disorders are able to mimic antiphospholipid antibody syndrome, so a broad range of alternative diagnoses should be investigated and ruled out during clinical workup.

  6. An approach to differential diagnosis of antiphospholipid antibody syndrome and related conditions.

    Science.gov (United States)

    Emmi, Giacomo; Silvestri, Elena; Squatrito, Danilo; Ciucciarelli, Lucia; Cameli, Anna Maria; Denas, Gentian; D'Elios, Mario Milco; Pengo, Vittorio; Emmi, Lorenzo; Prisco, Domenico

    2014-01-01

    The antiphospholipid antibody syndrome is a systemic, acquired, immune-mediated disorder characterized by episodes of venous, arterial, or microcirculation thrombosis and/or pregnancy abnormalities, associated with the persistent presence of autoantibodies, confirmed at least in two occasions 12 weeks apart, directed to molecular complexes consisting of phospholipids and proteins. Antiphospholipid antibody syndrome should always be considered as a potential diagnosis especially for young patients presenting with a history of thrombotic events, in particular when they occur without any obvious external trigger or any inherited thrombophilic mutation (even if 2006 criteria do not exclude antiphospholipid antibody syndrome in patients with other inherited or acquired prothrombotic conditions), or for women with recurrent pregnancy losses or later fetal deaths. Many other disorders are able to mimic antiphospholipid antibody syndrome, so a broad range of alternative diagnoses should be investigated and ruled out during clinical workup.

  7. Syndromal versus contextualized personality assessment: differentiating environmental and dispositional determinants of boys' aggression.

    Science.gov (United States)

    Wright, J C; Lindgren, K P; Zakriski, A L

    2001-12-01

    Two studies examined how "syndromal" approaches to assessment confound differences between individuals in the person and situation variables that contribute to their behavior. In a field study, a widely used instrument was found to be sensitive to the base rates of boys' aggression but, as expected, did not discriminate between boys who were similar in their behavior base rates but different in their social environments and how they responded to them. A laboratory experiment replicated this finding and demonstrated that social observers discriminated between targets on the basis of their functional properties even though syndrome scores did not. The results clarify how syndromal methods can obscure situational factors, conflict with people's social knowledge, and reinforce the view that syndromes exist "in the individual" rather than in person-environment interactions. Implications for developing more contextually sensitive instruments are discussed.

  8. TETANIC CRISIS IN EMERGENCY CARDIOLOGY — DIFFICULTIES DIFFERENTIAL DIAGNOSIS OF ACUTE CORONARY SYNDROME

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    V. V. Rezvan

    2016-01-01

    Full Text Available The report presents a case of tetanic crisis in a patient with postoperative parathyroid insufficiency after strumectomy that emergency doctors were interpreted as an acute coronary syndrome with collapse.

  9. A role for gene duplication and natural variation of gene expression in the evolution of metabolism.

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    Daniel J Kliebenstein

    Full Text Available BACKGROUND: Most eukaryotic genomes have undergone whole genome duplications during their evolutionary history. Recent studies have shown that the function of these duplicated genes can diverge from the ancestral gene via neo- or sub-functionalization within single genotypes. An additional possibility is that gene duplicates may also undergo partitioning of function among different genotypes of a species leading to genetic differentiation. Finally, the ability of gene duplicates to diverge may be limited by their biological function. METHODOLOGY/PRINCIPAL FINDINGS: To test these hypotheses, I estimated the impact of gene duplication and metabolic function upon intraspecific gene expression variation of segmental and tandem duplicated genes within Arabidopsis thaliana. In all instances, the younger tandem duplicated genes showed higher intraspecific gene expression variation than the average Arabidopsis gene. Surprisingly, the older segmental duplicates also showed evidence of elevated intraspecific gene expression variation albeit typically lower than for the tandem duplicates. The specific biological function of the gene as defined by metabolic pathway also modulated the level of intraspecific gene expression variation. The major energy metabolism and biosynthetic pathways showed decreased variation, suggesting that they are constrained in their ability to accumulate gene expression variation. In contrast, a major herbivory defense pathway showed significantly elevated intraspecific variation suggesting that it may be under pressure to maintain and/or generate diversity in response to fluctuating insect herbivory pressures. CONCLUSION: These data show that intraspecific variation in gene expression is facilitated by an interaction of gene duplication and biological activity. Further, this plays a role in controlling diversity of plant metabolism.

  10. An Approach to Differential Diagnosis of Antiphospholipid Antibody Syndrome and Related Conditions

    OpenAIRE

    Giacomo Emmi; Elena Silvestri; Danilo Squatrito; Lucia Ciucciarelli; Anna Maria Cameli; Gentian Denas; Mario Milco D’Elios; Vittorio Pengo; Lorenzo Emmi; Domenico Prisco

    2014-01-01

    The antiphospholipid antibody syndrome is a systemic, acquired, immune-mediated disorder characterized by episodes of venous, arterial, or microcirculation thrombosis and/or pregnancy abnormalities, associated with the persistent presence of autoantibodies, confirmed at least in two occasions 12 weeks apart, directed to molecular complexes consisting of phospholipids and proteins. Antiphospholipid antibody syndrome should always be considered as a potential diagnosis especially for young pati...

  11. Validity and reliability of the Spanish version of the DN4 (Douleur Neuropathique 4 questions questionnaire for differential diagnosis of pain syndromes associated to a neuropathic or somatic component

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    Bouhassira Didier

    2007-12-01

    Full Text Available Abstract Background This study assesses the validity and reliability of the Spanish version of DN4 questionnaire as a tool for differential diagnosis of pain syndromes associated to a neuropathic (NP or somatic component (non-neuropathic pain, NNP. Methods A study was conducted consisting of two phases: cultural adaptation into the Spanish language by means of conceptual equivalence, including forward and backward translations in duplicate and cognitive debriefing, and testing of psychometric properties in patients with NP (peripheral, central and mixed and NNP. The analysis of psychometric properties included reliability (internal consistency, inter-rater agreement and test-retest reliability and validity (ROC curve analysis, agreement with the reference diagnosis and determination of sensitivity, specificity, and positive and negative predictive values in different subsamples according to type of NP. Results A sample of 164 subjects (99 women, 60.4%; age: 60.4 ± 16.0 years, 94 (57.3% with NP (36 with peripheral, 32 with central, and 26 with mixed pain and 70 with NNP was enrolled. The questionnaire was reliable [Cronbach's alpha coefficient: 0.71, inter-rater agreement coefficient: 0.80 (0.71–0.89, and test-retest intra-class correlation coefficient: 0.95 (0.92–0.97] and valid for a cut-off value ≥ 4 points, which was the best value to discriminate between NP and NNP subjects. Discussion This study, representing the first validation of the DN4 questionnaire into another language different than the original, not only supported its high discriminatory value for identification of neuropathic pain, but also provided supplemental psychometric validation (i.e. test-retest reliability, influence of educational level and pain intensity and showed its validity in mixed pain syndromes.

  12. Duodenal duplication cyst identified with MRCP

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    Carbognin, G.; Guarise, A.; Biasiutti, C.; Pagnotta, N.; Procacci, C. [Department of Radiology, University Hospital ' G.B. Rossi' , Verona (Italy)

    2000-08-01

    We report a case of a stalked cystic duodenal duplication. The lesion, hyperintense on T2-weighted GRE images, maintained the signal intensity after oral administration of a negative contrast agent (Lumirem, Guerbet, Aulnay-Sous-Bois, France), confirming its independence from the duodenal lumen. To our knowledge, this is the first demonstration of duodenal duplication by means of MR cholangiopancreatography. (orig.)

  13. Bilateral duplication of the internal auditory canal

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    Weon, Young Cheol; Kim, Jae Hyoung; Choi, Sung Kyu [Seoul National University College of Medicine, Department of Radiology, Seoul National University Bundang Hospital, Seongnam-si (Korea); Koo, Ja-Won [Seoul National University College of Medicine, Department of Otolaryngology, Seoul National University Bundang Hospital, Seongnam-si (Korea)

    2007-10-15

    Duplication of the internal auditory canal is an extremely rare temporal bone anomaly that is believed to result from aplasia or hypoplasia of the vestibulocochlear nerve. We report bilateral duplication of the internal auditory canal in a 28-month-old boy with developmental delay and sensorineural hearing loss. (orig.)

  14. Molecular Characterization of Down Syndrome Embryonic Stem Cells Reveals a Role for RUNX1 in Neural Differentiation

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    Tomer Halevy

    2016-10-01

    Full Text Available Down syndrome (DS is the leading genetic cause of mental retardation and is caused by a third copy of human chromosome 21. The different pathologies of DS involve many tissues with a distinct array of neural phenotypes. Here we characterize embryonic stem cell lines with DS (DS-ESCs, and focus on the neural aspects of the disease. Our results show that neural progenitor cells (NPCs differentiated from five independent DS-ESC lines display increased apoptosis and downregulation of forehead developmental genes. Analysis of differentially expressed genes suggested RUNX1 as a key transcription regulator in DS-NPCs. Using genome editing we were able to disrupt all three copies of RUNX1 in DS-ESCs, leading to downregulation of several RUNX1 target developmental genes accompanied by reduced apoptosis and neuron migration. Our work sheds light on the role of RUNX1 and the importance of dosage balance in the development of neural phenotypes in DS.

  15. MR Cholangiography and Dynamic Examination of Duodenal Fluid in the Differential Diagnosis between Extrahepatic Biliary Atresia and Infantile Hepatitis Syndrome

    Institute of Scientific and Technical Information of China (English)

    2006-01-01

    In order to evaluate the value of magnetic resonance cholangiography (MRC) and dynamic examination of duodenal fluid in the differential diagnosis between extrahepatic biliary atresia (EHBA) and infantile hepatitis syndrome (IHS), 52 pa tients with infantile cholestatic jaundice were examined by MRC and duodenal fluid examination. Original interpretations were compared with clinical outcome. Calculated sensitivity of duodenal fluid examination in diagnosis of EHBA was 100%, and specificity was 91.1%. Sensitivity of MRC in the diagnosis of EHBA was 94.4 % and specificity 88.24 %. The sensitivity of MRC and examination of duodenal fluid combined in diagnosis of EHBA was 94.4 % and specificity 97.06 %. We are led to conclude that MRC and dynamic examination of duodenal fluid are useful in the differential diagnosis between IHS and EHBA and the combined use of the two techniques yield better resutls.

  16. Therapeutic Efficacy of Fuzheng-Huayu Tablet Based Traditional Chinese Medicine Syndrome Differentiation on Hepatitis-B-Caused Cirrhosis: A Multicenter Double-Blind Randomized Controlled Trail

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    Ya-Nan Song

    2013-01-01

    Full Text Available Aim. To evaluate and predict the therapeutic efficacy of Fuzheng-Huayu tablet (FZHY based traditional Chinese Medicine (TCM syndrome differentiation or TCM symptoms on chronic hepatitis B caused cirrhosis (HBC. Methods. The trial was designed according to CONSORT statement. It was a multi-center, double-blind, randomized, placebo-controlled trail. Several clinical parameters, Child-Pugh classification and TCM symptoms were detected and evaluated. The FZHY efficacy was predicted by an established Bayes forecasting method following the Bayes classification model. Results. The levels of HA and TCM syndrome score in FZHY group were significantly decreased (P<0.05 compared to placebo group, respectively. The efficacy of FZHY on TCM syndrome score in HBC patients with some TCM syndromes was better. In TCM syndrome score evaluation, there were 53 effective and 22 invalid in FZHY group. TCM symptoms predicted FZHY efficacy on HBC were close to Child-Pugh score prediction. Conclusion. FZHY decreases the levels of HA and TCM syndrome scores, improves the life quality of HBC patients. Moreover, there were different therapeutic efficacies among different TCM syndromes, indicating that accurate TCM syndrome differentiation might guide the better TCM treatment. Furthermore, the FZHY efficacy was able to predict by Bayes forecasting method through the alteration of TCM symptoms.

  17. Current incidence of duplicate publication in otolaryngology.

    Science.gov (United States)

    Cheung, Veronique Wan Fook; Lam, Gilbert O A; Wang, Yun Fan; Chadha, Neil K

    2014-03-01

    Duplicate publication--deemed highly unethical--is the reproduction of substantial content in another article by the same authors. In 1999, Rosenthal et al. identified an 8.5% incidence of duplicate articles in two otolaryngology journals. We explored the current incidence in three otolaryngology journals in North America and Europe. Retrospective literature review. Index articles in 2008 in Archives of Otolaryngology-Head and Neck Surgery, Laryngoscope, and Clinical Otolaryngology were searched using MEDLINE. Potential duplicate publications in 2006 through 2010 were identified using the first, second, and last authors' names. Three authors independently investigated suspected duplicate publications--classifying them by degree of duplication. Of 358 index articles screened, 75 (20.9%) had 119 potential duplicates from 2006 to 2010. Full review of these 119 potential duplicates revealed a total of 40 articles with some form of redundancy (33.6% of the potential duplicates) involving 27 index articles (7.5% of 358 index articles); one (0.8%) "dual" publication (identical or nearly identical data and conclusions to the index article); three (2.5%) "suspected" dual publications (less than 50% new data and same conclusions); and 36 (30.3%) publications with "salami-slicing" (portion of the index article data repeated) were obtained. Further analysis compared the likelihood of duplicate publication by study source and subspecialty within otolaryngology. The incidence of duplicate publication has not significantly changed over 10 years. "Salami-slicing" was a concerning practice, with no cross-referencing in 61% of these cases. Detecting and eliminating redundant publications is a laborious task, but it is essential in upholding the journal quality and research integrity. © 2013 The American Laryngological, Rhinological and Otological Society, Inc.

  18. Integrated transcriptome analysis of human iPS cells derived from a fragile X syndrome patient during neuronal differentiation.

    Science.gov (United States)

    Lu, Ping; Chen, Xiaolong; Feng, Yun; Zeng, Qiao; Jiang, Cizhong; Zhu, Xianmin; Fan, Guoping; Xue, Zhigang

    2016-11-01

    Fragile X syndrome (FXS) patients carry the expansion of over 200 CGG repeats at the promoter of fragile X mental retardation 1 (FMR1), leading to decreased or absent expression of its encoded fragile X mental retardation protein (FMRP). However, the global transcriptional alteration by FMRP deficiency has not been well characterized at single nucleotide resolution, i.e., RNA-seq. Here, we performed in-vitro neuronal differentiation of human induced pluripotent stem (iPS) cells that were derived from fibroblasts of a FXS patient (FXS-iPSC). We then performed RNA-seq and examined the transcriptional misregulation at each intermediate stage during in-vitro differentiation of FXS-iPSC into neurons. After thoroughly analyzing the transcriptomic data and integrating them with those from other platforms, we found up-regulation of many genes encoding TFs for neuronal differentiation (WNT1, BMP4, POU3F4, TFAP2C, and PAX3), down-regulation of potassium channels (KCNA1, KCNC3, KCNG2, KCNIP4, KCNJ3, KCNK9, and KCNT1) and altered temporal regulation of SHANK1 and NNAT in FXS-iPSC derived neurons, indicating impaired neuronal differentiation and function in FXS patients. In conclusion, we demonstrated that the FMRP deficiency in FXS patients has significant impact on the gene expression patterns during development, which will help to discover potential targeting candidates for the cure of FXS symptoms.

  19. Fetal reprogramming and senescence in hypoplastic left heart syndrome and in human pluripotent stem cells during cardiac differentiation.

    Science.gov (United States)

    Gaber, Naila; Gagliardi, Mark; Patel, Pranali; Kinnear, Caroline; Zhang, Cindy; Chitayat, David; Shannon, Patrick; Jaeggi, Edgar; Tabori, Uri; Keller, Gordon; Mital, Seema

    2013-09-01

    Hypoplastic left heart syndrome (HLHS) is a severe cardiac malformation characterized by left ventricle (LV) hypoplasia and abnormal LV perfusion and oxygenation. We studied hypoxia-associated injury in fetal HLHS and human pluripotent stem cells during cardiac differentiation to assess the effect of microenvironmental perturbations on fetal cardiac reprogramming. We studied LV myocardial samples from 32 HLHS and 17 structurally normal midgestation fetuses. Compared with controls, the LV in fetal HLHS samples had higher nuclear expression of hypoxia-inducible factor-1α but lower angiogenic growth factor expression, higher expression of oncogenes and transforming growth factor (TGF)-β1, more DNA damage and senescence with cell cycle arrest, fewer cardiac progenitors, myocytes and endothelial lineages, and increased myofibroblast population (P cells (SMCs) had less DNA damage compared with endothelial cells and myocytes. We recapitulated the fetal phenotype by subjecting human pluripotent stem cells to hypoxia during cardiac differentiation. DNA damage was prevented by treatment with a TGF-β1 inhibitor (P cells). The hypoplastic LV in fetal HLHS samples demonstrates hypoxia-inducible factor-1α up-regulation, oncogene-associated cellular senescence, TGF-β1-associated fibrosis and impaired vasculogenesis. The phenotype is recapitulated by subjecting human pluripotent stem cells to hypoxia during cardiac differentiation and rescued by inhibition of TGF-β1. This finding suggests that hypoxia may reprogram the immature heart and affect differentiation and development.

  20. Differentiated thyroid cancer in patients with resistance to thyroid hormone syndrome. A novel case and a review of the literature.

    Science.gov (United States)

    Vinagre, João; Borges, Fátima; Costa, António; Alvelos, Maria Inês; Mazeto, Glaúcia; Sobrinho-Simões, Manuel; Soares, Paula

    2014-01-01

    Resistance to thyroid hormone (RTH) represents a syndrome in which patients present elevated circulating thyroid hormones in the presence of non-suppressed TSH. We report a novel case where a patient with RTH presented a differentiated thyroid cancer. A19 year-old female had been referred due to thyroid disease that disclosed features characteristic of a RTH. During the follow up it was detected a follicular tumor that led to the recommendation for thyroid surgical ablation, where an incidental papillary thyroid microcarcinoma (mPTC) was found. The increase of thyroglobulin (TG) levels following thyroid removal referred the patient for radioiodine treatment. Post-treatment, it was detected jugular adenopathies and the patient was subjected to cervical lymph node drainage where metastases of the mPTC were found. RTH syndrome was confirmed by the detection of a THRB germline mutation. A BRAF mutation was also found in the mPTC but not detected in the follicular adenoma or normal adjacent tissue. The young age of the patient, the rarity of BRAF mutations in childhood and the high dissemination of the malignancy, lead us to the speculation that increased TSH stimulation in a RTH background and oncogenic activation of BRAF could have served as (co) drivers and might have triggered an advanced stage of the neoplastic disease. These findings together with a review of published cases add novel information to the management of RTH patients with differentiated thyroid cancer.

  1. HYDROLETHALUS SYNDROME

    Directory of Open Access Journals (Sweden)

    Aradhana

    2013-06-01

    Full Text Available INTRODUCTION: Hydrolethalus Syndrome (HLS is a rare lethal genetic syndrome, recognized as a consequence of a study on Meckle syndrome in Finland .1 HLS is characterized by multiple developmental defects of fetus which include fetal hydrocephalus, agenesis of corpus callosum, absent midline structures of brain, Cleft lip and cleft palate, defective lobulation of lungs, micrognathia and very characteristic abnormality of polydactyly. About 80% of patients have polydactyly, in hands it is postaxial and preaxial in feet with duplicated big toe. A highly characteristic hallux duplex is seen in almost no other situation .2 Club feet is also common.

  2. Syndrome Differentiation and Treatment Experience of Psoriasis%辨证论治银屑病验案

    Institute of Scientific and Technical Information of China (English)

    周宝宽

    2012-01-01

    目的:总结周宝宽主任医师辨治银屑病经验.方法:以医案的形式阐述银屑病的病因病机、证型、治法、方药.结果:银屑病的病因病机复杂,主要为血热、血虚、风燥、气滞、血瘀、湿毒、火毒及脏腑功能失调导致肌肤失养.治疗原则为凉血消斑,养血润燥,化瘀通络,清热利湿,泻火解毒.自拟清热解毒汤,养血润燥汤,化瘀通络汤,化湿解毒汤,泻火解毒汤.结论:辨证论治银屑病有较好疗效.%Objective:To summarize syndrome differentiation and treatment experience of psoriasis in clinic. Methods: Discuss etiopathogenisis,pathogenesis,pattern of syndrome, method of treatment, formulae and medicinals based on medical records. Results :The etiopathogenisis and pathogenesis are complicated, causes of psoriasis include blood heat, blood deficiency, wind-dry-ness, qi stagnation,blood stasis,dampness toxin,fire toxin,and disharmony of Zang Fu function,and result in nutritional disorder of skin, treatment principles of psoriasis are cooling blood to clear macula, nourishing blood to moisten dryness, dispensing blood stasis and dredge collateral,clearing away heat evil and promoting diuresis,purging fire for removing toxin. Formulae for psoriasis are decoction of heat-clearing and detoxicating,decoction of moisturize dryness by nourishing blood,decoction of disperse blood stasis and dredge collateral, decoction of dissipating dampness for removing toxin, decoction of purging fire for removing toxin. Conclusion : Syndrome differentiation and treatment show a better therapeutic effect for psoriasis.

  3. Diffusion tensor imaging differentiates vascular parkinsonism from parkinsonian syndromes of degenerative origin in elderly subjects

    Energy Technology Data Exchange (ETDEWEB)

    Deverdun, Jérémy [Department of Neuroradiology, Montpellier University Hospital Center, Gui de Chauliac Hospital, Montpellier (France); Laboratoire Charles Coulomb, CNRS UMR 5221 - Université Montpellier II, Montpellier (France); I2FH, Institut d’Imagerie Fonctionnelle Humaine, Hôpital Gui de Chauliac, CHRU de, Montpellier (France); Menjot de Champfleur, Sophie [Department of Neuroradiology, Montpellier University Hospital Center, Gui de Chauliac Hospital, Montpellier (France); Clinique du Parc, Castelnau-le-Lez (France); Cabello-Aguilar, Simon [Department of Neuroradiology, Montpellier University Hospital Center, Gui de Chauliac Hospital, Montpellier (France); I2FH, Institut d’Imagerie Fonctionnelle Humaine, Hôpital Gui de Chauliac, CHRU de, Montpellier (France); Maury, Florence [Department of Neurology, Montpellier University Hospital Center, Gui de Chauliac Hospital, Montpellier (France); Molino, François [Laboratoire Charles Coulomb, CNRS UMR 5221 - Université Montpellier II, Montpellier (France); Institut de Génomique Fonctionnelle, UMR 5203 - INSERM U661 - Université Montpellier II - Université, Montpellier I (France); Charif, Mahmoud [Department of Neurology, Montpellier University Hospital Center, Gui de Chauliac Hospital, Montpellier (France); Leboucq, Nicolas [Department of Neuroradiology, Montpellier University Hospital Center, Gui de Chauliac Hospital, Montpellier (France); Ayrignac, Xavier; Labauge, Pierre [Department of Neurology, Montpellier University Hospital Center, Gui de Chauliac Hospital, Montpellier (France); and others

    2014-11-15

    Background and Purpose: The etiologic diagnosis of parkinsonian syndromes is of particular importance when considering syndromes of vascular or degenerative origin. The purpose of this study is to find differences in the white-matter architecture between those two groups in elderly patients. Materials and Methods: Thirty-five patients were prospectively included (multiple-system atrophy, n = 5; Parkinson's disease, n = 15; progressive supranuclear palsy, n = 9; vascular parkinsonism, n = 6), with a mean age of 76 years. Patients with multiple-system atrophy, progressive supranuclear palsy and Parkinson's disease were grouped as having parkinsonian syndromes of degenerative origin. Brain MRIs included diffusion tensor imaging. Fractional anisotropy and mean-diffusivity maps were spatially normalized, and group analyses between parkinsonian syndromes of degenerative origin and vascular parkinsonism were performed using a voxel-based approach. Results: Statistical parametric-mapping analysis of diffusion tensor imaging data showed decreased fractional anisotropy value in internal capsules bilaterally in patients with vascular parkinsonism compared to parkinsonian syndromes of degenerative origin (p = 0.001) and showed a lower mean diffusivity in the white matter of the left superior parietal lobule (p = 0.01). Fractional anisotropy values were found decreased in the middle cerebellar peduncles in multiple-system atrophy compared to Parkinson's disease and progressive supranuclear palsy. The mean diffusivity was increased in those regions for these subgroups. Conclusion: Clinically defined vascular parkinsonism was associated with decreased fractional anisotropy in the deep white matter (internal capsules) compared to parkinsonian syndromes of degenerative origin. These findings are consistent with previously published neuropathological data.

  4. Carcinosarcoma with choriocarcinomatous and osteosarcomatous differentiation in a patient with juvenile polyposis syndrome

    Directory of Open Access Journals (Sweden)

    Rafael Parra-Medina

    2015-09-01

    Full Text Available Juvenile polyposis syndrome (JPS is an infrequent autosomal dominant hereditary predisposition to the occurrence of hamartomatous polyps in the colon and rectum. We describe the case of a 12-year-old boy with JPS associated with an abdominal tumor. Histological sections of the abdominal tumor showed components of adenocarcinoma, osteosarcoma, and choriocarcinoma. Immunohistochemistry was AE1/AE3, CK7, HCG and SALL4 positive. Juvenile polyposis syndrome patients are at increased risk of colorectal adenocarcinoma. However, we present a case of an adenocarcinoma associated with other unusual components. This association has not been reported before.

  5. Differentiation of the cerebral salt wasting syndrome and syndrome of inappropriate antidiuretic hormone secretion%脑性盐耗综合征与抗利尿激素异常分泌综合征的鉴别

    Institute of Scientific and Technical Information of China (English)

    周莎莎; 李嫔

    2014-01-01

    脑性盐耗综合征和抗利尿激素异常分泌综合征在颅脑疾病相关的低钠血症中均占用一定比例.两种疾病临床表现极为相似,且易混淆,而治疗原则却大不相同.因此,正确鉴别两种疾病,对于临床患者的治疗及预后意义重大.该文从发病机制、诊断及治疗等方面对两种疾病进行鉴别.%The cerebral salt wasting syndrome and syndrome of inappropriate antidiuretic hormone secretion are frequent in hyponatremia in patients with intracranial disorders.There is a major problem about the incidence,diagnosis,and differentiation of cerebral salt wasting syndrome and syndrome of inappropriate secretion of antidiuretic hormone in patients with acute central nervous system disorders.Clinical presentation of cerebral salt wasting syndrome is similar to syndrome of inappropriate antidiuretic hormone secretion,but the therapy is different.So differential diagnosis is essential for appropriate management.This paper differentiate two kinds of diseases from the pathogenesis,diagnosis and treatment.

  6. Genome duplication, subfunction partitioning, and lineage divergence: Sox9 in stickleback and zebrafish.

    Science.gov (United States)

    Cresko, William A; Yan, Yi-Lin; Baltrus, David A; Amores, Angel; Singer, Amy; Rodríguez-Marí, Adriana; Postlethwait, John H

    2003-11-01

    Teleosts are the most species-rich group of vertebrates, and a genome duplication (tetraploidization) event in ray-fin fish appears to have preceded this remarkable explosion of biodiversity. What is the relationship of the ray-fin genome duplication to the teleost radiation? Genome duplication may have facilitated lineage divergence by partitioning different ancestral gene subfunctions among co-orthologs of tetrapod genes in different teleost lineages. To test this hypothesis, we investigated gene expression patterns for Sox9 gene duplicates in stickleback and zebrafish, teleosts whose lineages diverged early in Euteleost evolution. Most expression domains appear to have been partitioned between Sox9a and Sox9b before the divergence of stickleback and zebrafish lineages, but some ancestral expression domains were distributed differentially in each lineage. We conclude that some gene subfunctions, as represented by lineage-specific expression domains, may have assorted differently in separate lineages and that these may have contributed to lineage diversification during teleost evolution.

  7. Isolated omental duplication cyst with respiratory epithelium & pancreatic glands: Case report & review of literature

    Directory of Open Access Journals (Sweden)

    Phuoc T. Nguyen

    2016-08-01

    Full Text Available Duplication cysts are uncommon congenital anomalies. They are usually in communication with or are attached to an adjacent segment of bowel. Rarely are they completely isolated from the gastrointestinal tract. To date, there have been 29 reported cases of non-communicating or isolated duplication cysts. Few contain respiratory epithelium and pancreatic glands. Patients may present with pain, an acute abdomen, bleeding or malignant degeneration. Differential diagnoses for an isolated cystic mass should include duplication cyst in the pediatric population. Recognition and awareness of these anomalies and their various presentations can aid in management. The unusual case of an isolated duplication cyst containing respiratory and pancreatic tissue, found within omentum, is presented with a review of the literature.

  8. Temporal pattern of loss/persistence of duplicate genes involved in signal transduction and metabolic pathways after teleost-specific genome duplication

    Directory of Open Access Journals (Sweden)

    Sato Yukuto

    2009-06-01

    We have shown firstly the temporal pattern of gene loss process after 3R-WGD on the basis of teleost phylogeny and divergence time frameworks. The 3R-WGD-derived duplicates have not undergone constant exponential decay, suggesting that selection favoured the long-term persistence of a subset of duplicates that tend to be multi-functional. On the basis of these results obtained from the analysis of 116 orthologous gene groups, we propose that more than ten thousand of 3R-WGD-derived duplicates have experienced lineage-specific evolution, that is, the differential sub-/neo-functionalization or secondary loss between lineages, and contributed to teleost diversity.

  9. Differential diagnostic value of eye movement recording in PSP-parkinsonism, Richardson's syndrome, and idiopathic Parkinson's disease.

    Science.gov (United States)

    Pinkhardt, Elmar H; Jürgens, Reinhart; Becker, Wolfgang; Valdarno, Federica; Ludolph, Albert C; Kassubek, Jan

    2008-12-01

    Vertical gaze palsy is a highly relevant clinical sign in parkinsonian syndromes. As the eponymous sign of progressive supranuclear palsy (PSP), it is one of the core features in the diagnosis of this disease. Recent studies have suggested a further differentiation of PSP in Richardson's syndrome (RS) and PSP-parkinsonism (PSPP). The aim of this study was to search for oculomotor abnormalities in the PSP-P subset of a sample of PSP patients and to compare these findings with those of (i) RS patients, (ii) patients with idiopathic Parkinson's disease (IPD), and (iii) a control group. Twelve cases of RS, 5 cases of PSP-P, and 27 cases of IPD were examined by use of video-oculography (VOG) and compared to 23 healthy normal controls. Both groups of PSP patients (RS, PSP-P) had significantly slower saccades than either IPD patients or controls, whereas no differences in saccadic eye peak velocity were found between the two PSP groups or in the comparison of IPD with controls. RS and PSP-P were also similar to each other with regard to smooth pursuit eye movements (SPEM), with both groups having significantly lower gain than controls (except for downward pursuit); however, SPEM gain exhibited no consistent difference between PSP and IPD. A correlation between eye movement data and clinical data (Hoehn & Yahr scale or disease duration) could not be observed. As PSP-P patients were still in an early stage of the disease when a differentiation from IPD is difficult on clinical grounds, the clear-cut separation between PSP-P and IPD obtained by measuring saccade velocity suggests that VOG could contribute to the early differentiation between these patient groups.

  10. Partial duplication of the APBA2 gene in chromosome 15q13 corresponds to duplicon structures

    Directory of Open Access Journals (Sweden)

    Kesterson Robert A

    2003-04-01

    Full Text Available Abstract Background Chromosomal abnormalities affecting human chromosome 15q11-q13 underlie multiple genomic disorders caused by deletion, duplication and triplication of intervals in this region. These events are mediated by highly homologous segments of DNA, or duplicons, that facilitate mispairing and unequal cross-over in meiosis. The gene encoding an amyloid precursor protein-binding protein (APBA2 was previously mapped to the distal portion of the interval commonly deleted in Prader-Willi and Angelman syndromes and duplicated in cases of autism. Results We show that this gene actually maps to a more telomeric location and is partially duplicated within the broader region. Two highly homologous copies of an interval containing a large 5' exon and downstream sequence are located ~5 Mb distal to the intact locus. The duplicated copies, containing the first coding exon of APBA2, can be distinguished by single nucleotide sequence differences and are transcriptionally inactive. Adjacent to APBA2 maps a gene termed KIAA0574. The protein encoded by this gene is weakly homologous to a protein termed X123 that in turn maps adjacent to APBA1 on 9q21.12; APBA1 is highly homologous to APBA2 in the C-terminal region and is distinguished from APBA2 by the N-terminal region encoded by this duplicated exon. Conclusion The duplication of APBA2 sequences in this region adds to a complex picture of different low copy repeats present across this region and elsewhere on the chromosome.

  11. ''Duplicate calcaneus'': a rare developmental defect observed in several skeletal dysplasias

    Energy Technology Data Exchange (ETDEWEB)

    Cormier-Daire, V. [Cedars-Sinai Medical Center, Los Angeles, CA (United States); Hopital Necker-Enfants-Malades, 75 - Paris (France); University of Southern California, Los Angeles, CA (United States). School of Medicine; Savarirayan, R. [Cedars-Sinai Medical Center, Los Angeles, CA (United States); Victorian Clinical Genetics Services, Royal Children' s Hospital, Victoria (Australia); Unger, S.; Rimoin, D.L. [Cedars-Sinai Medical Center, Los Angeles, CA (United States); Lachman, R.S. [Cedars-Sinai Medical Center, Los Angeles, CA (United States); Dept. of Radiology, UCLA School of Medicine, Los Angeles, CA (United States); Medical Genetics, Cedars-Sinai Medical Center, Los Angeles, CA (United States)

    2001-01-01

    Duplication of the calcaneus is a rarely observed radiographic finding that probably results from delayed coalescence of two primary calcaneal centers of ossification. We performed a review of 2,500 computerized cases of skeletal dysplasias and syndromes with bone involvement in the International Skeletal Dysplasia Registry, searching for those cases in which a duplicate calcaneus had been recorded. We found that it was a non-random feature of three skeletal dysplasias and groups comprising thanatophoric dysplasia and the chondrodysplasia punctata and short rib (polydactyly) groups. We conclude that duplication of the calcaneus should be considered a consistent feature of these entities and may reflect a more generalized developmental defect. (orig.)

  12. Course and differential diagnosis of the McCune-Albright syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Friedel, B.; Weickert, H.

    1986-05-01

    The McCune-Albright syndrome consists of a combination of fibrous dysplasia of bone and endocrine lesions with abnormalities of pigmentation. The condition is rare and may be missed, as happened in our case. The case showed extreme skeletal deformities, menarche at one year and peculiar histological appearances.

  13. Duplicated Ižnternal Juguler Vein

    Directory of Open Access Journals (Sweden)

    Ahmet Kirbas

    2014-03-01

    Full Text Available    Duplicated internal juguler vein (DIJV is a rare anomaly and reported incidence is 0.4 % in the literature. A 45-year-old female patient was referred to our hospital because of non pulsatile neck swelling. The magnetic resonance image (MRI showed left IJVs divided at the angles of the mandible running anterior to the common carotid artery until anterior mediastinal level. Clinicians should be aware of the rare possibility of duplicated IJVs in patients presenting with neck swelling. The development of imaging technics have revealed more cases of duplicated internal juguler vein.

  14. A partial MECP2 duplication in a mildly affected adult male: a putative role for the 3' untranslated region in the MECP2 duplication phenotype

    Directory of Open Access Journals (Sweden)

    Hanchard Neil A

    2012-08-01

    with a MECP2 duplication and paternal transmission of this duplication are unique among reported cases with a duplication of MECP2. The clinical and molecular findings imply a minimal critical region for the full neurocognitive expression of the MECP2 duplication syndrome, and suggest a role for the 3′ UTR in mitigating the severity of the disease phenotype.

  15. Infantile spasms and 15q11.2q13.1 chromosome duplication in two successive generations.

    Science.gov (United States)

    Riikonen, Raili Sylvia; Wallden, Tiina; Kokkonen, Hannaleena

    2016-01-01

    Familial cases of West syndrome have been reported only in Japan. In that study no chromosomal analyses were made. It has been suggested that microarray analysis should be included in the diagnostic evaluation of patients with infantile spasms and developmental delay, when an evaluation for structural brain lesions and metabolic disorders reveal no abnormal findings. We report here the first case of infantile spasms and 15q11.2q13.1 chromosome duplication in two successive generations. The daughter and mother with infantile spasms, and the autistic son had the duplication. The clinical course of infantile spasms was very similar in the mother and daughter. The spasms were primarily considered to be of unknown aetiology. Chromosomal microarray analysis revealed a 6.2 Mb size 15q11.2q13.1 duplication. The duplication belongs to the 15q11q13 duplication syndrome (OMIM 608636) which when maternally derived is characterised by neuro-behavioural disorders like autism, hypotonia, cognitive deficit, language delay and epilepsy. The proportion of patients with unknown aetiology for infantile spasms will decrease when more careful chromosomal studies are made. Our report expands the phenotype of chromosome 15q duplication syndrome and is the first report of this abnormality in two successive generations of infantile spasms.

  16. Evaluation of usefulness of myeloperoxidase index (MPXI) for differential diagnosis of systemic inflammatory response syndrome (SIRS) in the emergency department.

    Science.gov (United States)

    Cha, Yong Sung; Yoon, Jeong Min; Jung, Woo Jin; Kim, Yong Won; Kim, Tae Hoon; Kim, Oh Hyun; Cha, Kyoung Chul; Kim, Hyun; Hwang, Sung Oh; Lee, Kang Hyun

    2015-04-01

    The myeloperoxidase index (MPXI) is elevated in infection. We ascertained whether MPXI might be useful in differentiation of sepsis versus non-infectious systemic inflammatory response syndrome (SIRS) in emergency department (ED). After exclusion of patients with an age of SIRS (sepsis: 224, 50.3%; and non-infectious SIRS: 220, 49.7%) diagnosed and treated at the ED of The Wonju Severance Christian Hospital from May 2012 to June 2012 were retrospectively reviewed. Median MPXI was higher in sepsis versus non-infectious SIRS (0.1 (IQR: -3.1 to 2.5) vs -1.2 (-4.1 to 1.6), respectively, p=0.020). Median white cell count, neutrophil percentage, C reactive protein level and δ neutrophil index were also higher. However, MPXI resulted as not statistically useful for differential diagnostic parameter in analysis. MPXI is higher in sepsis than in non-infectious SIRS. However, there is currently no evidence that the MPXI adds any additional benefit to differentiate sepsis from non-infectious SIRS in the ED. Therefore, further study will be needed. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.

  17. 小儿厌食症辨治之我见%Syndrome Differentiation Treatment of Infantile Anorexia in My View

    Institute of Scientific and Technical Information of China (English)

    郑恩红

    2016-01-01

    小儿厌食症是由于小儿脏腑娇嫩,形气未充,脾常不足,加之喂养不当,或饮食不洁,或感邪患病等多种原因,引起的纳运失职,传导失司所致,以长期纳呆,厌食,形体消瘦,面色少华为特征的一种儿科常见病。其发病原因,既有内在因素,又有外在病因,内外相互作用,从而导致此病。在辨治时,应从病机着手,抓住主症,察明病因,分辨虚实,辨清脏腑等,根据患儿的具体情况,施以对症治疗。临床上,只要辨证准确,治疗便可以收到良好的效果。%Children’s anorexia is a kind of pediatric disease caused by the loss of control and conduction which is because the children’s organs are delicate, shaped gas is not sufficient, the spleen is often inadequate, coupled with improper feeding, or eating unclean, or feeling evil, and so on .The characteristic of this disease is long-term anorexia, emaciation, lack of facial skin luster. The cause of the disease, not only including internal factors, but also the external causes.At the same time, it also has a close relationship with the environment and so on. The causes of the disease include not only internal factors, but also external causes.Internal and external factors interacted,which leads to the disease. When give syndrome differentiation treatment,it is important that should begin with the pathogenesis,catch the main symptom,find out the cause,distinguish the deficiency and excess,distinguish the internal organs and so on.According to the specific circumstances of the children,it shoule give the children syndrome differentiation treatment. In the clinical, as long as the syndrome differentiation, treatment can receive good results.

  18. Nature and management of duplicate medication alerts

    NARCIS (Netherlands)

    Heringa, Mette; Floor, Annemieke; Meijer, Willemijn M.; De Smet, Peter A G M; Bouvy, Marcel L.|info:eu-repo/dai/nl/153182210

    2015-01-01

    OBJECTIVE: To investigate the nature of duplicate medication (DM) alerts, their management by community pharmacists, and potential characteristics of DM alerts that lead to interventions by pharmacists. METHODS: Observational study in 53 community pharmacies. Each pharmacist registered the nature

  19. Differential expression of toll-like receptors in patients with irritable bowel syndrome.

    LENUS (Irish Health Repository)

    Brint, Elizabeth K

    2011-02-01

    The pathogenesis of irritable bowel syndrome (IBS) is poorly understood. One contributory factor may be low-grade mucosal inflammation, perhaps initiated by the microbiota. Toll-like receptors (TLRs) are a family of pathogen-recognition receptors of the innate immune system. The aim of this study was to evaluate the potential involvement of TLRs in IBS to further understand the involvement of the innate immune system in this complex disorder.

  20. Differential contribution of dietary fat and monosaccharide to metabolic syndrome in the common marmoset (Callithrix jacchus)

    OpenAIRE

    2010-01-01

    There is a critical need for animal models to study aspects type 2 diabetes mellitus pathogenesis and prevention. While the rhesus macaque is such an established model, the common marmoset has added benefits including reduced zoonotic risks, shorter life span, and a predisposition to birth twins demonstrating chimerism. The marmoset as a model organism for the study of metabolic syndrome has not been fully evaluated. Marmosets fed high-fat or glucose-enriched diets were followed longitudinall...

  1. A rare differential diagnosis to occupational neck pain: bilateral stylohyoid syndrome

    OpenAIRE

    2006-01-01

    Abstract Chronic neck pain is widely prevalent and a common source of disability in the working-age population. Etiology of chronic neck pain includes neck sprain, mechanical or muscular neck pain, myofascial pain syndrome, postural neck pain as well as pain due to degenerative changes. We report the case of a 42 year old secretary, complaining about a longer history of neck pain and limited movement of the cervical spine. Surprisingly, the adequate radiologic examination revealed a bilateral...

  2. Polymorphic haplotypes of CRELD1 differentially predispose Down syndrome and euploids individuals to atrioventricular septal defect.

    Science.gov (United States)

    Ghosh, Priyanka; Bhaumik, Pranami; Ghosh, Sujoy; Ozbek, Umut; Feingold, Eleanor; Maslen, Cheryl; Sarkar, Biswanath; Pramanik, Vishmadeb; Biswas, Priyanka; Bandyopadhyay, Biswajit; Dey, Subrata Kumar

    2012-11-01

    To explore the role of CRELD1 variants on congenital heart defects, we sequenced the entire reading frame of CRELD1 in the samples from Kolkata and adjoining areas. Nearly, 400 participants were included in the genetic association study and they were stratified as Down syndrome (DS) with atrioventricular septal defect (AVSD), DS without AVSD, euploid with AVSD, and euploid without AVSD. A significant association was found between AVSD and three polymorphisms, namely rs9878047 (c.1049-129T > C), rs3774207 (c.1119C > T), and rs73118372 (c.1136T > C) among the Down syndrome and euploid individuals. The polymorphism rs73118372, involves a transition (c.1136T > C) that leads to change in amino acid methionine to threonine which alters protein secondary structure as confirmed by the bioinformatics software SOPMA. In addition, two haplotypes, C-T-C and C-T-T, in the order of loci rs9878047-rs3774207-rs73118372 were associated with incidence of AVSD among euploid and Down syndrome, with a slightly higher odds ratio in the later group. We hypothesize that these haplotypes increase the risk of AVSD, and the susceptibility is exacerbated in DS, possibly due to the trisomy 21 genetic background. Moreover, we report for the first time on an interaction between the mutant alleles of rs3774207 and rs73118372 which could disrupt the delicate balance between different CRELD1 isoforms.

  3. The fate of the duplicated androgen receptor in fishes: a late neofunctionalization event?

    Directory of Open Access Journals (Sweden)

    Haendler Bernard

    2008-12-01

    Full Text Available Abstract Background Based on the observation of an increased number of paralogous genes in teleost fishes compared with other vertebrates and on the conserved synteny between duplicated copies, it has been shown that a whole genome duplication (WGD occurred during the evolution of Actinopterygian fish. Comparative phylogenetic dating of this duplication event suggests that it occurred early on, specifically in teleosts. It has been proposed that this event might have facilitated the evolutionary radiation and the phenotypic diversification of the teleost fish, notably by allowing the sub- or neo-functionalization of many duplicated genes. Results In this paper, we studied in a wide range of Actinopterygians the duplication and fate of the androgen receptor (AR, NR3C4, a nuclear receptor known to play a key role in sex-determination in vertebrates. The pattern of AR gene duplication is consistent with an early WGD event: it has been duplicated into two genes AR-A and AR-B after the split of the Acipenseriformes from the lineage leading to teleost fish but before the divergence of Osteoglossiformes. Genomic and syntenic analyses in addition to lack of PCR amplification show that one of the duplicated copies, AR-B, was lost in several basal Clupeocephala such as Cypriniformes (including the model species zebrafish, Siluriformes, Characiformes and Salmoniformes. Interestingly, we also found that, in basal teleost fish (Osteoglossiformes and Anguilliformes, the two copies remain very similar, whereas, specifically in Percomorphs, one of the copies, AR-B, has accumulated substitutions in both the ligand binding domain (LBD and the DNA binding domain (DBD. Conclusion The comparison of the mutations present in these divergent AR-B with those known in human to be implicated in complete, partial or mild androgen insensitivity syndrome suggests that the existence of two distinct AR duplicates may be correlated to specific functional differences that may be

  4. Atypical presentation of CLIPPERS syndrome: a new entity in the differential diagnosis of central nervous system rheumatologic diseases.

    Science.gov (United States)

    Gul, Maryam; Chaudhry, Ammar A; Chaudhry, Abbas A; Sheikh, Mubashir A; Carsons, Steven

    2015-04-01

    Numerous autoimmune diseases can affect the central nervous system (CNS), and variable clinical presentations confound the differential diagnosis. The challenging task of properly characterizing various CNS autoimmune diseases enables patients to be rapidly triaged and appropriately treated. In this review article, we aim to explore different CNS manifestations of rheumatologic diseases with emphasis on the utility of imaging and cerebrospinal fluid findings. We review the classic physical examination findings, characteristic imaging features, cerebrospinal fluid results, and serum biomarkers. In addition, we also present a unique case of newly described autoimmune entity CLIPPERS syndrome. Our case is unique in that this is the first case which demonstrates involvement of the supratentorial perivascular spaces in addition to the classic infratentorial involvement as initially described by Pittock et al (Brain. 2010;133:2626-2634).

  5. Chaperonin genes on the rise: new divergent classes and intense duplication in human and other vertebrate genomes

    Directory of Open Access Journals (Sweden)

    Macario Alberto JL

    2010-03-01

    Full Text Available Abstract Background Chaperonin proteins are well known for the critical role they play in protein folding and in disease. However, the recent identification of three diverged chaperonin paralogs associated with the human Bardet-Biedl and McKusick-Kaufman Syndromes (BBS and MKKS, respectively indicates that the eukaryotic chaperonin-gene family is larger and more differentiated than previously thought. The availability of complete genome sequences makes possible a definitive characterization of the complete set of chaperonin sequences in human and other species. Results We identified fifty-four chaperonin-like sequences in the human genome and similar numbers in the genomes of the model organisms mouse and rat. In mammal genomes we identified, besides the well-known CCT chaperonin genes and the three genes associated with the MKKS and BBS pathological conditions, a newly-defined class of chaperonin genes named CCT8L, represented in human by the two sequences CCT8L1 and CCT8L2. Comparative analyses from several vertebrate genomes established the monophyletic origin of chaperonin-like MKKS and BBS genes from the CCT8 lineage. The CCT8L gene originated from a later duplication also in the CCT8 lineage at the onset of mammal evolution and duplicated in primate genomes. The functionality of CCT8L genes in different species was confirmed by evolutionary analyses and in human by expression data. Detailed sequence analysis and structural predictions of MKKS, BBS and CCT8L proteins strongly suggested that they conserve a typical chaperonin-like core structure but that they are unlikely to form a CCT-like oligomeric complex. The characterization of many newly-discovered chaperonin pseudogenes uncovered the intense duplication activity of eukaryotic chaperonin genes. Conclusions In vertebrates, chaperonin genes, driven by intense duplication processes, have diversified into multiple classes and functionalities that extend beyond their well-known protein

  6. 中医辨治糖尿病肾病%Traditional Chinese Medicine Syndrome Differentiation and Treatment of Diabetic Nephropathy

    Institute of Scientific and Technical Information of China (English)

    曲波

    2012-01-01

    Objective:To briefly analyze TCM understandings and therapies of diabetic nephropathy. Methods:Diagnosis standards and clinical stages of diabetic nephropathy, TCM understandings of pathogenesis and syndrome differentiation and treatment methods on diabetic nephropathy were summarized. Results: Pathogenesis of diabetic nephropathy could not be summarized as down-consumption and consumption of kidney simply based on the theory of "the root of yin deficiency,the superficiality of hot and dryness" ,and it should be comprehensively studied on the basis of diabetes, edema and consumptive disease. Phlegm, dampness, blood stasis, hot and dryness all could become the superficial pathogenesis;deficiency of yang.yin and qi could all be the root. Conclusion:TCM syndrome differentiation and treatment can treat diabetic nephropathy with great curative effects.%目的:浅析中医对糖尿病肾病的认识和治疗方法.方法:总结糖尿病肾病诊断标准、临床分期,以及中医对糖尿病肾病病因病机的认识和辨证论治方法.结果:对于糖尿病肾病的病因病机认识不能简单地以“阴虚为本,燥热为标”为论,将其归结为下消、肾消,应该将其置于消渴、水肿、虚劳等几个疾病中综合考虑.痰湿、瘀血、燥热皆可为标,阳虚、阴虚、气虚皆可为本.结论:中医辨证论治糖尿病肾病效果显著.

  7. A novel clinical score (InterTAK Diagnostic Score) to differentiate takotsubo syndrome from acute coronary syndrome: results from the International Takotsubo Registry.

    Science.gov (United States)

    Ghadri, Jelena R; Cammann, Victoria L; Jurisic, Stjepan; Seifert, Burkhardt; Napp, L Christian; Diekmann, Johanna; Bataiosu, Dana Roxana; D'Ascenzo, Fabrizio; Ding, Katharina J; Sarcon, Annahita; Kazemian, Elycia; Birri, Tanja; Ruschitzka, Frank; Lüscher, Thomas F; Templin, Christian

    2017-08-01

    Clinical presentation of takotsubo syndrome (TTS) mimics acute coronary syndrome (ACS) and does not allow differentiation. We aimed to develop a clinical score to estimate the probability of TTS and to distinguish TTS from ACS in the acute stage. Patients with TTS were recruited from the International Takotsubo Registry ( www.takotsubo-registry.com) and ACS patients from the leading hospital in Zurich. A multiple logistic regression for the presence of TTS was performed in a derivation cohort (TTS, n = 218; ACS, n = 436). The best model was selected and formed a score (InterTAK Diagnostic Score) with seven variables, and each was assigned a score value: female sex 25, emotional trigger 24, physical trigger 13, absence of ST-segment depression (except in lead aVR) 12, psychiatric disorders 11, neurologic disorders 9, and QTc prolongation 6 points. The area under the curve (AUC) for the resulting score was 0.971 [95% confidence interval (CI) 0.96-0.98] and using a cut-off value of 40 score points, sensitivity was 89% and specificity 91%. When patients with a score of ≥50 were diagnosed as TTS, nearly 95% of TTS patients were correctly diagnosed. When patients with a score ≤31 were diagnosed as ACS, ∼95% of ACS patients were diagnosed correctly. The score was subsequently validated in an independent validation cohort (TTS, n = 173; ACS, n = 226), resulting in a score AUC of 0.901 (95% CI 0.87-0.93). The InterTAK Diagnostic Score estimates the probability of the presence of TTS and is able to distinguish TTS from ACS with a high sensitivity and specificity. NCT0194762. © 2016 The Authors. European Journal of Heart Failure published by John Wiley & Sons Ltd on behalf of European Society of Cardiology.

  8. Kindler syndrome

    Directory of Open Access Journals (Sweden)

    Kaviarasan P

    2005-01-01

    Full Text Available Kindler syndrome is a rare autosomal recessive disorder associated with skin fragility. It is characterized by blistering in infancy, photosensitivity and progressive poikiloderma. The syndrome involves the skin and mucous membrane with radiological changes. The genetic defect has been identified on the short arm of chromosome 20. This report describes an 18-year-old patient with classical features like blistering and photosensitivity in childhood and the subsequent development of poikiloderma. The differential diagnosis of Kindler syndrome includes diseases like Bloom syndrome, Cockayne syndrome, dyskeratosis congenita, epidermolysis bullosa, Rothmund-Thomson syndrome and xeroderma pigmentosum. Our patient had classical cutaneous features of Kindler syndrome with phimosis as a complication.

  9. Differentiation syndrome in patients with acute promyelocytic leukemia treated with all- trans retinoic acid and anthracycline chemotherapy: Characteristics, outcome, and prognostic factors

    NARCIS (Netherlands)

    P. Montesinos (Pau); J.M. Bergua (Juan Miguel); E. Vellenga (Edo); C. Rayón (Chelo); R. Parody (Ricardo); J. de Serna (Javier); A. León (Angel); J. Esteve (Jordi); G. Milone (Gustavo); G. Debén (Guillermo); C. Rivas (Concha); M. González (Marcos); M. Tormo (Mar); D.M. Joaquín; J.D. González (José David); S. Negri (Silvia); E. Amutio (Elena); S. Brunet (Salut); B. Löwenberg (Bob); M.A. Sanz (Miguel Angel)

    2009-01-01

    textabstractDifferentiation syndrome (DS) can be a life-threatening complication in patients with acute promyelocytic leukemia (APL) undergoing induction therapy with all- trans retinoic acid (ATRA). Detailed knowl- edge about DS has remained limited. We present an analysis of the incidence, char- a

  10. Differentiation syndrome in patients with acute promyelocytic leukemia treated with all- trans retinoic acid and anthracycline chemotherapy: Characteristics, outcome, and prognostic factors

    NARCIS (Netherlands)

    P. Montesinos (Pau); J.M. Bergua (Juan Miguel); E. Vellenga (Edo); C. Rayón (Chelo); R. Parody (Ricardo); J. de Serna (Javier); A. León (Angel); J. Esteve (Jordi); G. Milone (Gustavo); G. Debén (Guillermo); C. Rivas (Concha); M. González (Marcos); M. Tormo (Mar); D.M. Joaquín; J.D. González (José David); S. Negri (Silvia); E. Amutio (Elena); S. Brunet (Salut); B. Löwenberg (Bob); M.A. Sanz (Miguel Angel)

    2009-01-01

    textabstractDifferentiation syndrome (DS) can be a life-threatening complication in patients with acute promyelocytic leukemia (APL) undergoing induction therapy with all- trans retinoic acid (ATRA). Detailed knowl- edge about DS has remained limited. We present an analysis of the incidence, char-

  11. Comparison of Multilocus Variable-Number Tandem-Repeat Analysis and Multilocus Sequence Typing for Differentiation of Hemolytic-Uremic Syndrome-Associated Escherichia coli (HUSEC) Collection Strains▿

    OpenAIRE

    2011-01-01

    Multilocus variable-number tandem-repeat analysis (MLVA) was compared to multilocus sequence typing (MLST) to differentiate hemolytic uremic syndrome-associated enterohemorrhagic Escherichia coli strains. Although MLVA—like MLST—was highly discriminatory (index of diversity, 0.988 versus 0.984), a low level of concordance demonstrated the limited ability of MLVA to reflect long-term evolutionary events.

  12. 《张氏医通》辨治血证机理%Syndrome Differentiation and Treatment Mechanism of Blood Syndrome in Comprehensive Medicine According to Master Zhang

    Institute of Scientific and Technical Information of China (English)

    丁盈戈; 刘明; 朱平生

    2016-01-01

    张璐辨治血证以脏腑为本,用药顾及其间的生克顺逆,提出“证有虚中挟实,治有补中寓泻,从少从多之治法,贵于临病处裁”,治以标本兼治,首重其本,如治疗吐血,提出宜补肝,不宜伐肝,以平肝气而令血有所归,伐肝则肝虚不能藏血,血愈不止矣.同时以各脏腑功能的不同,所发生血证的特点也不尽相同,来辨证施治.治疗时,张氏尤重胃气,因血证伤及人身正气,虚劳百伤,不管见何样血证,治先量胃气虚实用药.如对吐血血暴涌如潮者,若脉见虚大,此火势未敛,不可便与汤药,急以热童便,或藕汁灌之滋阴降火,俟半日许,脉势稍缓,方可进调养之剂.而对见吐血一吐则倾盆盈碗,或鲜血中兼紫黑大块,吐后不即凝结的,盖吐血出于胃,胃为水谷之海,多气多血,所以吐多而不即凝,以中杂水谷之气也,皆劳力内伤中气而得(亦有醉饱伤内而致者),治不可骤止,止则使败血留积,为瘀血之根,不时举发,为害非轻,亦不宜峻攻,复伤其血,只宜调治胃气以安其血.%For the syndrome differentiation and treatment of blood syndrome,Master Zhang takes the zang-fu organs as the root and gives considerations to the generation,restriction,sequential or adverse transmission,occurrence of blood syndrome and the involved viscera.He proposed "the syndrome is deficiency complicated with excess,the treatment is tonification mixed with purgation,and the flexible option of the therapy lies in the clinical symptoms".The treatment should be treating both the manifestations and the root cause of the disease and the root cause is put as the priority.For example,in treating hematemesis,he suggests tonifying the liver rather than suppressing the sthenic liver qi in order to sooth liver qi and restore the blood.If suppress the sthenic liver qi,the liver would become too deficient to store blood.At the meanwhile,due to the various visceral function,the characteristics of blood syndromes

  13. Early detection of Berry syndrome in a newborn with differential cyanosis

    Institute of Scientific and Technical Information of China (English)

    FONG Nai-chung; KONG Chun-tat; MAK Wai-yau; SHIU Yiu-keung; LEE Shing-yan; CHOW Chun-bong; CHIU Man-chun

    2006-01-01

    @@ Berry Syndrome is a rare combination of congenital cardiac abnormalities firstly reported in 1982.1 It consists of aortopulmonary window, anomalous origin of the right pulmonary artery (RPA) from ascending aorta, intact ventricular septum,interruption of the aortic arch with patent ductus arteriosus(PDA). This is the 26th case reported in literature2 and the first report in Hong Kong. Delayed recognition can result in potential lethal condition.This report demonstrated the importance of prompt clinical recognition, timely echocardiography and early operation in the management of this rare cardiac anomaly.

  14. 48 CFR 1331.205-70 - Duplication of effort.

    Science.gov (United States)

    2010-10-01

    ... 48 Federal Acquisition Regulations System 5 2010-10-01 2010-10-01 false Duplication of effort....205-70 Duplication of effort. The Department will not pay any costs for work that is duplicative of..., Duplication of Effort, in all cost-reimbursement, time and materials, and labor hour solicitations...

  15. 44 CFR 204.62 - Duplication and recovery of assistance.

    Science.gov (United States)

    2010-10-01

    ... 44 Emergency Management and Assistance 1 2010-10-01 2010-10-01 false Duplication and recovery of... Administration § 204.62 Duplication and recovery of assistance. (a) Duplication of benefits. We provide supplementary assistance under the Stafford Act, which generally may not duplicate benefits received by...

  16. Comparative genomic analysis of duplicated homoeologous regions involved in the resistance of Brassica napus to stem canker

    Directory of Open Access Journals (Sweden)

    Berline eFopa Fomeju

    2015-09-01

    Full Text Available All crop species are current or ancient polyploids. Following whole genome duplication, structural and functional modifications result in differential gene content or regulation in the duplicated regions, which can play a fundamental role in the diversification of genes underlying complex traits. We have investigated this issue in Brassica napus, a species with a highly duplicated genome, with the aim of studying the structural and functional organization of duplicated regions involved in quantitative resistance to stem canker, a disease caused by the fungal pathogen Leptosphaeria maculans. Genome-wide association analysis on two oilseed rape panels confirmed that duplicated regions of ancestral blocks E, J, R, U and W were involved in resistance to stem canker. The structural analysis of the duplicated genomic regions showed a higher gene density on the A genome than on the C genome and a better collinearity between homoeologous regions than paralogous regions, as overall in the whole B. napus genome. The three ancestral sub-genomes were involved in the resistance to stem canker and the fractionation profile of the duplicated regions corresponded to what was expected from results on the B. napus progenitors. About 60% of the genes identified in these duplicated regions were single-copy genes while less than 5% were retained in all the duplicated copies of a given ancestral block. Genes retained in several copies were mainly involved in response to stress, signaling or transcription regulation. Genes with resistance-associated markers were mainly retained in more than two copies. These results suggested that some genes underlying quantitative resistance to stem canker might be duplicated genes. Genes with a hydrolase activity that were retained in one copy or R-like genes might also account for resistance in some regions. Further analyses need to be conducted to indicate to what extent duplicated genes contribute to the expression of the

  17. Differential sympathetic activation in muscle and skin neural districts in the metabolic syndrome.

    Science.gov (United States)

    Grassi, Guido; Quarti-Trevano, Fosca; Seravalle, Gino; Dell'Oro, Raffaella; Dubini, Antonella; Mancia, Giuseppe

    2009-10-01

    The present study was designed to determine whether and to what extent the activation of the sympathetic nervous system reported in the metabolic syndrome is generalized to the whole cardiovascular system or if it is rather confined to selected vascular districts. In 16 untreated patients with metabolic syndrome, 12 essential hypertensive subjects, 12 obese subjects, and 14 lean healthy normotensive controls, we measured blood pressure (Finapres, Englewood, CO), heart rate (electrocardiogram), venous plasma norepinephrine (high-performance liquid chromatography), and postganglionic sympathetic nerve traffic in the skeletal muscle and in the skin districts (microneurography). The muscle and skin nerve traffic measurements were obtained in a randomized sequence. Measurements also included skin sympathetic nerve responses to an arousal (acoustic stimulus). The 4 groups of subjects had superimposable ages. Muscle sympathetic nerve traffic values were significantly higher in subjects with hypertension and in those with obesity than in controls (51.2 +/- 2.8 and 52.0 +/- 3.0 vs 37.2 +/- 3.3 bursts per 100 heart beats, respectively; P fashion by the various components of the disease.

  18. An evaluation of laboratory tests for the detection and differential diagnosis of Cushing's syndrome.

    Science.gov (United States)

    Hankin, M E; Theile, H M; Steinbeck, A W

    1977-03-01

    1. Results of tests for the diagnosis of Cushings syndrome of varoius aetiologies are discussed for twenty-five patients in whom the pathology was established by operation or autopsy. 2. Control values for the urinary excretion of free cortisol, 17-OHCS, Porter-Silber chromogens (P-SC) and 17-OS and plasma levels of P-SC are compared with those for normal subjects. 3. The results indicated that urinary values are within the normal range for some patients with Cushing's syndrome. 4. Plasma levels of P-SC in the morning were within the normal range for the majority and elevated for the rest. 5. Some patients showed day-night variation of plasma P-SC but evening values were above the normal range. 6. The expected response for low dosage dexamethasone was found in all patients tested but unexpected responses followed high dosage in some. 7. Plasma 11-OHCS in the five patients tested failed to respond to insulin induced hypoglycaemia. 8. Metyrapone administration and corticotrophin infusion tests had limited usefulness in establishing the aetiology of the disease. The 17-OHCS excretion became raised in the response to corticotrophin and the evaluation was prolonged beyond normal responsiveness.

  19. Miller Fisher Syndrome: A Case Report Highlighting Heterogeneity of Clinical Features and Focused Differential Diagnosis.

    Science.gov (United States)

    Yepishin, Ilya V; Allison, Randall Z; Kaminskas, David A; Zagorski, Natalia M; Liow, Kore K

    2016-07-01

    Miller Fisher Syndrome (MFS) is a rare variant of Guillain-Barré Syndrome (GBS) that has a geographically variable incidence. It is largely a clinical diagnosis based on the cardinal clinical features of ataxia, areflexia, and opthalmoplegia, however, other neurological signs and symptoms may also be present. Serological confirmation with the anti-GQ1b antibody is available and allows for greater diagnostic certainty in the face of confounding symptoms. A self-limiting course is typical of MFS. The following case report is that of a patient who presented with generalized weakness, somatic pain, inability to walk, and diplopia following an upper respiratory illness. The patient exhibited the classic triad of ataxia, areflexia, and opthalmoplegia characteristic of MFS, but also had less typical signs and symptoms making for a more challenging diagnostic workup. Our suspected diagnosis of MFS was serologically confirmed with positive anti-GQ1b antibody titer and the patient was successfully treated with Intravenous immune globulin (IVIG).

  20. Tandem gene arrays in Trypanosoma brucei: Comparative phylogenomic analysis of duplicate sequence variation

    Directory of Open Access Journals (Sweden)

    Jackson Andrew P

    2007-04-01

    Full Text Available Abstract Background The genome sequence of the protistan parasite Trypanosoma brucei contains many tandem gene arrays. Gene duplicates are created through tandem duplication and are expressed through polycistronic transcription, suggesting that the primary purpose of long, tandem arrays is to increase gene dosage in an environment where individual gene promoters are absent. This report presents the first account of the tandem gene arrays in the T. brucei genome, employing several related genome sequences to establish how variation is created and removed. Results A systematic survey of tandem gene arrays showed that substantial sequence variation existed across the genome; variation from different regions of an array often produced inconsistent phylogenetic affinities. Phylogenetic relationships of gene duplicates were consistent with concerted evolution being a widespread homogenising force. However, tandem duplicates were not usually identical; therefore, any homogenising effect was coincident with divergence among duplicates. Allelic gene conversion was detected using various criteria and was apparently able to both remove and introduce sequence variation. Tandem arrays containing structural heterogeneity demonstrated how sequence homogenisation and differentiation can occur within a single locus. Conclusion The use of multiple genome sequences in a comparative analysis of tandem gene arrays identified substantial sequence variation among gene duplicates. The distribution of sequence variation is determined by a dynamic balance of conservative and innovative evolutionary forces. Gene trees from various species showed that intraspecific duplicates evolve in concert, perhaps through frequent gene conversion, although this does not prevent sequence divergence, especially where structural heterogeneity physically separates a duplicate from its neighbours. In describing dynamics of sequence variation that have consequences beyond gene dosage, this

  1. Differential genes in adipocytes induced from polycystic and non-polycystic ovary syndrome-derived human embryonic stem cells.

    Science.gov (United States)

    Wang, Fang; Liu, Wei-Wei; Chen, Xue-Mei; Kong, Hui-Juan; Li, Jing; Sun, Ying-Pu

    2014-06-01

    We explored the molecular mechanisms of obesity and insulin resistance in patients with polycystic ovary syndrome (PCOS) using a human embryonic stem cell model (hESCs). Three PCOS-derived and one non-PCOS-derived hESC lines were induced into adipocytes, and then total RNA was extracted. The differentially expressed PCOS-derived and non-PCOS-derived adipocytes genes were identified using the Boao Biological human V 2.0 whole genome oligonucleotide microarray. Signals of interest were then validated by real-time PCR. A total of 153 differential genes were expressed of which 91 genes were up-regulated and 62 down-regulated. Nuclear receptor subfamily 0, group B, member 2 (NR0B2) was an up-regulated gene, and the GeneChip CapitalBio® Molecule Annotation System V4.0 indicated that it was associated with obesity and diabetes (Ratio ≥ 2.0X). Multiple genes are involved in PCOS. Nuclear receptor subfamily 0, group B, member 2 may play a role in obesity and insulin resistance in patients with PCOS.

  2. Brain stimulation over Broca's area differentially modulates naming skills in neurotypical adults and individuals with Asperger's syndrome.

    Science.gov (United States)

    Fecteau, Shirley; Agosta, Sara; Oberman, Lindsay; Pascual-Leone, Alvaro

    2011-07-01

    In the present study we tested the hypothesis that, in subjects with Asperger's syndrome (ASP), the dynamics of language-related regions might be abnormal, so that repetitive transcranial magnetic stimulation (rTMS) over Broca's area leads to differential behavioral effects as seen in neurotypical controls. We conducted a five-stimulation-site, double-blind, multiple crossover, pseudo-randomized, sham-controlled study in 10 individuals with ASP and 10 age- and gender-matched healthy subjects. Object naming was assessed before and after low-frequency rTMS of the left pars opercularis, left pars triangularis, right pars opercularis and right pars triangularis, and sham stimulation, as guided stereotaxically by each individual's brain magnetic resonance imaging. In ASP participants, naming improved after rTMS of the left pars triangularis as compared with sham stimulation, whereas rTMS of the adjacent left opercularis lengthened naming latency. In healthy subjects, stimulation of parts of Broca's area did not lead to significant changes in naming skills, consistent with published data. Overall, these findings support our hypothesis of abnormal language neural network dynamics in individuals with ASP. From a methodological point of view, this work illustrates the use of rTMS to study the dynamics of brain-behavior relations by revealing the differential behavioral impact of non-invasive brain stimulation in a neuropsychiatric disorder.

  3. Differentially Expressed MicroRNAs in Maternal Plasma for the Noninvasive Prenatal Diagnosis of Down Syndrome (Trisomy 21

    Directory of Open Access Journals (Sweden)

    Julian Kamhieh-Milz

    2014-01-01

    Full Text Available Objectives. Most developmental processes are under the control of small regulatory RNAs called microRNAs (miRNAs. We hypothesize that different fetal developmental processes might be reflected by extracellular miRNAs in maternal plasma and may be utilized as biomarkers for the noninvasive prenatal diagnosis of chromosomal aneuploidies. In this proof-of-concept study, we report on the identification of extracellular miRNAs in maternal plasma of Down syndrome (DS pregnancies. Methods. Using high-throughput quantitative PCR (HT-qPCR, 1043 miRNAs were investigated in maternal plasma via comparison of seven DS pregnancies with age and fetal sex matched controls. Results. Six hundred and ninety-five miRNAs were identified. Thirty-six significantly differentially expressed mature miRNAs were identified as potential biomarkers. Hierarchical cluster analysis of these miRNAs resulted in the clear discrimination of DS from euploid pregnancies. Gene targets of the differentially expressed miRNAs were enriched in signaling pathways such as mucin type-O-glycans, ECM-receptor interactions, TGF-beta, and endocytosis, which have been previously associated with DS. Conclusions. miRNAs are promising and stable biomarkers for a broad range of diseases and may allow a reliable, cost-efficient diagnostic tool for the noninvasive prenatal diagnosis of DS.

  4. Peripheral diabetic neuropathy or restless legs syndrome in persons with type 2 diabetes mellitus: Differentiating diagnosis in practice.

    Science.gov (United States)

    Cuellar, Norma G; Dorn, James Mark

    2015-12-01

    Restless legs syndrome (RLS) affects 8% of the population and is identified in 21% of individuals with type 2 diabetes (T2DM). Symptoms of RLS manifest as discomfort in the legs (e.g., numbness, tingling, electrical stimulations), usually occurring at night or at rest (sitting or lying), resulting in the need to move the legs. Peripheral diabetic neuropathy (PDN), which has symptoms similar to RLS, is a common consequence of T2DM. The purpose of this article is to provide nurse practitioners (NPs) with (a) an overview of RLS, (b) the association of RLS with T2DM, (c) the defining characteristics that differentiate PDN from RLS, and (d) implications to improve health outcomes of persons with T2DM. The literature was reviewed for the most current data on RLS and the defining characteristics of PDN. PDN is a common consequence of T2DM and is described as numbness, tingling, or discomfort in the lower extremities, symptoms that are similar to RLS. Differentiating the symptoms of PDN and RLS may be confusing and result in misdiagnoses, lack of treatment, and poor outcomes. It is essential that NPs are knowledgeable about the diagnostic and defining features of RLS as well as the characteristics of other conditions, specifically PDN, which mimics RLS. ©2015 American Association of Nurse Practitioners.

  5. Procalcitonin for the differential diagnosis of infectious and non-infectious systemic inflammatory response syndrome after cardiac surgery.

    Science.gov (United States)

    Zhao, Dong; Zhou, Jianxin; Haraguchi, Go; Arai, Hirokuni; Mitaka, Chieko

    2014-01-01

    This study was performed to assess the value of procalcitonin (PCT) for the differential diagnosis between infectious and non-infectious systemic inflammatory response syndrome (SIRS) after cardiac surgery. Patients diagnosed with SIRS after cardiac surgery between April 1, 2011 and March 31, 2013 were retrospectively studied. A total of 142 patients with SIRS, infectious (n = 47) or non-infectious (n = 95), were included. The patients with infectious SIRS included 11 with sepsis, 12 with severe sepsis without shock, and 24 with septic shock. PCT, C-reactive protein (CRP), and the white blood cell (WBC) count were significantly higher in the infectious SIRS group than in the non-infectious SIRS group. PCT had the highest sensitivity and specificity for differential diagnosis, with a cut-off value for infectious SIRS of 0.47 ng/mL. PCT was more reliable than CRP in diagnosing severe sepsis without shock, but it was not useful for diagnosing septic shock. The PCT cut-off value for diagnosing severe sepsis without shock was 2.28 ng/mL. PCT was a useful marker for the diagnosis of infectious SIRS after cardiac surgery. The optimal PCT cut-off value for diagnosing infectious SIRS was 0.47 ng/mL.

  6. Do Children Think that Duplicating the Body also Duplicates the Mind?

    Science.gov (United States)

    Hood, Bruce; Gjersoe, Nathalia L.; Bloom, Paul

    2012-01-01

    Philosophers use hypothetical duplication scenarios to explore intuitions about personal identity. Here we examined 5- to 6-year-olds' intuitions about the physical properties and memories of a live hamster that is apparently duplicated by a machine. In Study 1, children thought that more of the original's physical properties than episodic…

  7. A conserved segmental duplication within ELA.

    Science.gov (United States)

    Brinkmeyer-Langford, C L; Murphy, W J; Childers, C P; Skow, L C

    2010-12-01

    The assembled genomic sequence of the horse major histocompatibility complex (MHC) (equine lymphocyte antigen, ELA) is very similar to the homologous human HLA, with the notable exception of a large segmental duplication at the boundary of ELA class I and class III that is absent in HLA. The segmental duplication consists of a ∼ 710 kb region of at least 11 repeated blocks: 10 blocks each contain an MHC class I-like sequence and the helicase domain portion of a BAT1-like sequence, and the remaining unit contains the full-length BAT1 gene. Similar genomic features were found in other Perissodactyls, indicating an ancient origin, which is consistent with phylogenetic analyses. Reverse-transcriptase PCR (RT-PCR) of mRNA from peripheral white blood cells of healthy and chronically or acutely infected horses detected transcription from predicted open reading frames in several of the duplicated blocks. This duplication is not present in the sequenced MHCs of most other mammals, although a similar feature at the same relative position is present in the feline MHC (FLA). Striking sequence conservation throughout Perissodactyl evolution is consistent with a functional role for at least some of the genes included within this segmental duplication.

  8. Identification of Differentially Expressed MicroRNAs in the Ovary of Polycystic Ovary Syndrome with Hyperandrogenism and Insulin Resistance

    Institute of Scientific and Technical Information of China (English)

    Lin Lin; Tao Du; Jia Huang; Li-Li Huang; Dong-Zi Yang

    2015-01-01

    Background:Polycystic ovary syndrome (PCOS) is the commonest endocrinopathy in women of reproductive age.The patients often develop insulin resistance (IR) or hyperinsulinemia despite manifesting anovulation and signs of hyperandrogenism.The cause and effect relationship of hyperinsulinemia and hyperandrogenemia (HA) is still debated.Micro-ribonucleic acids (miRNAs) have recently been shown to play a role in regulation of ovarian function.Our current study focused on the altered expression of miRNAs with PCOS.Methods:Ovarian theca intema tissues were obtained from 10 PCOS patients and 8 controls that were non-PCOS and had normal insulin sensitivity undergoing laparoscopy and/or ovarian wedge resection.Total RNA of all samples was extracted.We studied the repertoire of miRNAs in both PCOS and non-PCOS women by microarray hybridization.Bioinformatic analysis was performed for predicting targets of the differentially expressed miRNAs.Furthermore,selected miRNAs were validated by quantitative reverse transcriptase polymerase chain reaction (qRT-PCR).Results:A total of 27 miRNAs were differentially expressed in PCOS patients with respect to the controls in our discovery evaluationand two (miR-92a and miR-92b) of them were significantly downregulated in PCOS women in followed validation (P < 0.05).Targets prediction revealed that miR-92a targeted both GATA family of zinc finger transcription factor GATA-binding factor 6 (GATA6) and insulin receptor substrate proteins 2 (IRS-2).Conclusions:MiRNAs are differentially expressed between PCOS patients and controls.We identified and validated two miRNAs-miR-92a and miR-92b.They are significantly downregulated and may be involved in the pathogenesis of PCOS.

  9. Differential activation of the amygdala and the 'social brain' during fearful face-processing in Asperger Syndrome.

    Science.gov (United States)

    Ashwin, Chris; Baron-Cohen, Simon; Wheelwright, Sally; O'Riordan, Michelle; Bullmore, Edward T

    2007-01-01

    Impaired social cognition is a core feature of autism. There is much evidence showing people with autism use a different cognitive style than controls for face-processing. We tested if people with autism would show differential activation of social brain areas during a face-processing task. Thirteen adults with high-functioning autism or Asperger Syndrome (HFA/AS) and 13 matched controls. We used fMRI to investigate 'social brain' activity during perception of fearful faces. We employed stimuli known to reliably activate the amygdala and other social brain areas, and ROI analyses to investigate brain areas responding to facial threat as well as those showing a linear response to varying threat intensities. We predicted: (1) the HFA/AS group would show differential activation (as opposed to merely deficits) of the social brain compared to controls and (2) that social brain areas would respond to varied intensity of fear in the control group, but not the HFA/AS group. Both predictions were confirmed. The controls showed greater activation in the left amygdala and left orbito-frontal cortex, while the HFA/AS group showed greater activation in the anterior cingulate gyrus and superior temporal cortex. The control group also showed varying responses in social brain areas to varying intensities of fearful expression, including differential activations in the left and right amygdala. This response in the social brain was absent in the HFA/AS group. HFA/AS are associated with different patterns of activation of social brain areas during fearful emotion processing, and the absence in the HFA/AS brain of a response to varying emotional intensity.

  10. The differential diagnosis of multiple sclerosis: classification and clinical features of relapsing and progressive neurological syndromes.

    Science.gov (United States)

    Trojano, M; Paolicelli, D

    2001-11-01

    In the absence of pathognomonic clinical features or a definitive laboratory test, multiple sclerosis (MS) remains ultimately a diagnosis of exclusion. Accurate diagnosis is increasingly important with available disease modifying therapy. Unfortunately the rate of misdiagnosis remains around 5%-10%, indicating that 1 in 20 patients thought to have MS has, instead, a condition resembling MS. In this review we describe conditions that may be confused with MS because they can present as lesions disseminated in time, space, or both. Conditions often confused with MS may be inflammatory (systemic lupus erythematosus, Sjögren's syndrome, vasculitis, sarcoidosis, Behçet's disease), infectious (Lyme disease, syphilis, progressive multifocal leukoencephalopathy, HTLV-1 infection, herpes zoster), genetic (lysosomal disorders, adrenoleukodystrophy, mitochondrial disorders, CADASIL), metabolic (vitamin B12 deficiency), neoplastic (CNS lymphoma) and spinal (degenerative and vascular malformations) diseases. The key to the accurate diagnosis of MS is vigilance for atypical features, suggesting the possibility of an alternative diagnosis.

  11. [Malignant hyperthermia syndrome in the intensive care unit : Differential diagnosis and acute measures].

    Science.gov (United States)

    Grander, W

    2016-06-01

    Malignant hyperthermia is a life-threatening disease caused by derangement of the autonomic nerve system and hypermetabolism of the peripheral musculature. Commonly body core temperatures of more than 40 °C will be found in this disease which is caused mostly by psychopharmacological drugs like antidepressants, neuroleptics but also antibiotics, pain killers, anti-Parkinson drugs, and volatile anesthetics. The inducers of malignant hyperthermia interact with postsynaptic receptors (serotonin, anticholinergics) or muscular intracellular structures responsible for calcium utilization (volatile anesthetics, succinylcholine). Rarely malignant hyperthermia is a consequence of mental stress or vigorous exercise and or heat. Malignant hyperthermic syndromes lead to a severe dysbalance of the autonomic nerve system accompanied by rhabdomyolysis, disseminated intravascular coagulopathy, and finally multi-organ failure. Accordingly, medical management is primarily directed to stabilize vital functions, withdrawal of the causing drug, and if possible antagonizing toxic substances. The leading symptom hyperthermia needs to be treated physically with available cooling systems.

  12. Scalded skin syndrome: Diagnosis, differential diagnosis, and management of 42 children.

    Science.gov (United States)

    Margileth, A M

    1975-04-01

    The bacteriologic, epidemiologic, clinical, and diagnostic findings and management of the scalded skin syndrome (SSS) in 42 children are reported SSS may present in one of three ways: (1) Ritter's disease in infants, characterized by an acute, generalized bullous dermatitis simulating the appearance of scalded skin, followed by exfoliation; (2) Lyell's disease, or toxic epidermal necrolysis (TEN), in children or adults, with scalded skin and bullae followed by extensive exfoliation; or (3) a nonstreptococcal scarlatiniform eruption, or staphylococcal scarlet fever, manifested by a generalized scarlatiniform erythema ans subsequent minimal to moderate fine desquamation. Staphylococcus aureus was isolated and implicated as the causative agent in 32 of the 42 children; nine of the other ten children had received a drug or vaccine preceding their rash. SSS in children has increased in frequency recently, is usually due to S aureus infection with potential epidemic aspects, can be recognized easily by its unusual clinical features, and has an excellent prognosis with appropriate management.

  13. Comparative analysis of differentially expressed genes in normal and white spot syndrome virus infected Penaeus monodon

    Directory of Open Access Journals (Sweden)

    Juan Hsueh-Fen

    2007-05-01

    Full Text Available Abstract Background White spot syndrome (WSS is a viral disease that affects most of the commercially important shrimps and causes serious economic losses to the shrimp farming industry worldwide. However, little information is available in terms of the molecular mechanisms of the host-virus interaction. In this study, we used an expressed sequence tag (EST approach to observe global gene expression changes in white spot syndrome virus (WSSV-infected postlarvae of Penaeus monodon. Results Sequencing of the complementary DNA clones of two libraries constructed from normal and WSSV-infected postlarvae produced a total of 15,981 high-quality ESTs. Of these ESTs, 46% were successfully matched against annotated genes in National Center of Biotechnology Information (NCBI non-redundant (nr database and 44% were functionally classified using the Gene Ontology (GO scheme. Comparative EST analyses suggested that, in postlarval shrimp, WSSV infection strongly modulates the gene expression patterns in several organs or tissues, including the hepatopancreas, muscle, eyestalk and cuticle. Our data suggest that several basic cellular metabolic processes are likely to be affected, including oxidative phosphorylation, protein synthesis, the glycolytic pathway, and calcium ion balance. A group of immune-related chitin-binding protein genes is also likely to be strongly up regulated after WSSV infection. A database containing all the sequence data and analysis results is accessible at http://xbio.lifescience.ntu.edu.tw/pm/. Conclusion This study suggests that WSSV infection modulates expression of various kinds of genes. The predicted gene expression pattern changes not only reflect the possible responses of shrimp to the virus infection but also suggest how WSSV subverts cellular functions for virus multiplication. In addition, the ESTs reported in this study provide a rich source for identification of novel genes in shrimp.

  14. Reversal of phenotypes in MECP2 duplication mice using genetic rescue or antisense oligonucleotides.

    Science.gov (United States)

    Sztainberg, Yehezkel; Chen, Hong-mei; Swann, John W; Hao, Shuang; Tang, Bin; Wu, Zhenyu; Tang, Jianrong; Wan, Ying-Wooi; Liu, Zhandong; Rigo, Frank; Zoghbi, Huda Y

    2015-12-03

    Copy number variations have been frequently associated with developmental delay, intellectual disability and autism spectrum disorders. MECP2 duplication syndrome is one of the most common genomic rearrangements in males and is characterized by autism, intellectual disability, motor dysfunction, anxiety, epilepsy, recurrent respiratory tract infections and early death. The broad range of deficits caused by methyl-CpG-binding protein 2 (MeCP2) overexpression poses a daunting challenge to traditional biochemical-pathway-based therapeutic approaches. Accordingly, we sought strategies that directly target MeCP2 and are amenable to translation into clinical therapy. The first question that we addressed was whether the neurological dysfunction is reversible after symptoms set in. Reversal of phenotypes in adult symptomatic mice has been demonstrated in some models of monogenic loss-of-function neurological disorders, including loss of MeCP2 in Rett syndrome, indicating that, at least in some cases, the neuroanatomy may remain sufficiently intact so that correction of the molecular dysfunction underlying these disorders can restore healthy physiology. Given the absence of neurodegeneration in MECP2 duplication syndrome, we propose that restoration of normal MeCP2 levels in MECP2 duplication adult mice would rescue their phenotype. By generating and characterizing a conditional Mecp2-overexpressing mouse model, here we show that correction of MeCP2 levels largely reverses the behavioural, molecular and electrophysiological deficits. We also reduced MeCP2 using an antisense oligonucleotide strategy, which has greater translational potential. Antisense oligonucleotides are small, modified nucleic acids that can selectively hybridize with messenger RNA transcribed from a target gene and silence it, and have been successfully used to correct deficits in different mouse models. We find that antisense oligonucleotide treatment induces a broad phenotypic rescue in adult

  15. 骨伤科术后盗汗的辨证论治%Orthopedics Surgery Syndrome Differentiation and Rreatment of Night Sweats

    Institute of Scientific and Technical Information of China (English)

    俞伟忠; 张兴州; 李云峰; 刘延辉; 高华

    2014-01-01

    Objective For syndrome differentiation and treatment of orthopedic postoperative night sweats. Methods According to the symptoms and signs of patients with postoperative department of orthopedics, night sweats and summarize the law, typing, line of dialectical treatment. Results Postoperative night sweats were divided into qi and blood deficiency syndrome, hyperactivity of fire due to yin deficiency, syndrome of stagnation of liver qi, stagnation of qi and blood stasis , both qi and yin deficiency syndrome. Conclusion TCM syndrome differentiation treatment orthopedics surgery night sweats curative effect is remarkable.%目的:对骨伤科术后盗汗进行辨证分型、治疗。方法根据骨科术后盗汗患者的症状及体征,总结规律,进行分型,行辩证论治。结果术后盗汗分为气血亏虚证、阴虚火旺证、肝气郁结证、气滞血瘀及气阴两虚证五型。结论中医辨证治疗骨伤科术后盗汗疗效显著。

  16. Exploration on Stroke Aurae Syndrome from the Thought of Psychosomatic Differentiation and Treatment%中风先兆证从心身论治思路探讨

    Institute of Scientific and Technical Information of China (English)

    刘超

    2012-01-01

    Objective: To investigate the new clinical thoughts of diagnosis and treatment of stroke aurae syndrome. Methods: Based on the characteristics of pathogenesis of stroke aurae syndrome, by emphasizing the impact of psychological stress and other emotional factors on the disease and combining with the psychological status of patients and personality traits, diagnosis and treatment patterns for psychosomatic diseases in TCM internal medicine were used for the differentiation and treatment of stroke aurae syndrome. Results and Conclusion : The differentiation and treatment of stroke aurae syndrome by emphasizing both the the physical and psychological aspects has provided new thoughts for the clinical diagnosis and treatment of this syndrome in order to improve the clinical efficacy and reduce the incidence of stroke.%目的:探讨中风先兆证临床诊疗新思路.方法:基于中风先兆证病机特点,重视心理压力等情志因素对疾病的影响,结合患者心理状况与性格特征,试以中医内科心身疾病诊疗模式论治中风先兆证.结果与结论:心身并重论治中风先兆证,为中风先兆证临床诊疗提供新思路,以求提高临床疗效,降低中风发病率.

  17. Infected colonic duplication: A case report

    Energy Technology Data Exchange (ETDEWEB)

    Shin, Hye Seon; Lee, Young Hwan; Kang, Eugene; Oh, Yeon Kyun; Yun, Ki Jung [Wonkwang Univ. School of Medicine and Hospital, Iksan (Korea, Republic of)

    2012-09-15

    An enteric duplication is a relatively common congenital anomaly, which is rarely complicated by infection. We report the radiologic findings including ultrasound, barium enema and computed tomography (CT) of an infected colonic duplication that was confirmed by pathology. This case demonstrated a complex hypoechoic cystic mass with a thick wall and septa in the left lower quadrant of abdomen and increased the color flow on the Color Doppler ultrasonography. On CT images, the cystic mass contained multiple enhancing septa, infiltrated to the mesocolon and displaced the adjacent bowels. On exploration, a large cystic mass with an abscess attached to the mesocolic border adhering to the small bowel was found.

  18. Progress on the Syndrome Differentiation and Classification of Colon Cancer%大肠癌中医辨正分型研究进展

    Institute of Scientific and Technical Information of China (English)

    刘曼曼; 余涛; 陈曼; 侯风刚

    2012-01-01

    The paper reviewed the etiological factor and pathogenesis of colon cancer and its syndrome differentiation and classification. The study thought it was necessary to unify pattern of syndrome and its standard, especially reinforcing objective studies of four diagnostic on colon cancer.%回顾了近年来大肠癌中医病因病机及辩证分型方面的研究进展,应统一中医证型及其标准,加强对大肠癌四诊客观化的相关研究尤为重要.

  19. Charles Bonnet syndrome: characteristics of its visual hallucinations and differential diagnosis

    Directory of Open Access Journals (Sweden)

    Thiago Cardoso Vale

    2014-05-01

    Full Text Available Objective: To present an eight-case serie of patients with Charles Bonnet syndrome (CBS. Method: All patients were initially evaluated by an ophthalmologist and then submitted to a neurologic evaluation with exclusion of alternative psychiatric and neurologic diagnoses. Results: Five patients were male (62.5% and the mean age was 52.3+16.0 years. Two patients suffered from severe myopia and glaucoma, three had retinitis pigmentosa, one had anterior ischemic optic neuropathy, one had age-related macular degeneration and one had toxoplasmic retinochoroiditis. Mean visual acuity in the right eye was 1,12 logMAR and in the left eye 0.57 logMAR. A mean delay of 41.7 months occurred until diagnosis. All hallucinations were complexes and mostly ocurred on a weekly-basis (62.5% and lasted for seconds (87.5%. Conclusions: Physicians who care for low vision patients should be aware of CBS and appropriately diagnose its hallucinations after exclusion of psychiatric and neurologic diseases.

  20. Differential expression of function-related antigens on blood monocytes in children with hemolytic uremic syndrome.

    Science.gov (United States)

    Fernández, Gabriela C; Ramos, María V; Gómez, Sonia A; Dran, Graciela I; Exeni, Ramón; Alduncín, Marta; Grimoldi, Irene; Vallejo, Graciela; Elías-Costa, Christian; Isturiz, Martín A; Palermo, Marina S

    2005-10-01

    Monocytes (Mo) mediate central functions in inflammation and immunity. Different subpopulations of Mo with distinct phenotype and functional properties have been described. Here, we investigate the phenotype and function of peripheral Mo from children with hemolytic uremic syndrome (HUS). For this purpose, blood samples from patients in the acute period of HUS (HUS AP) were obtained on admission before dialysis and/or transfusion. The Mo phenotypic characterization was performed on whole blood by flow cytometry, and markers associated to biological functions were selected: CD14 accounting for lipopolysaccharide (LPS) responsiveness, CD11b for adhesion, Fc receptor for immunoglobulin G type I (FcgammaRI)/CD64 for phagocytosis and cytotoxicity, and human leukocyte antigen (HLA)-DR for antigen presentation. Some of these functions were also determined. Moreover, the percentage of CD14+ CD16+ Mo was evaluated. We found that the entire HUS AP Mo population exhibited reduced CD14, CD64, and CD11b expression and decreased LPS-induced tumor necrosis factor production and Fcgamma-dependent cytotoxicity. HUS AP showed an increased percentage of CD14+ CD16+ Mo with higher CD16 and lower CD14 levels compared with the same subset from healthy children. Moreover, the CD14++ CD16- Mo subpopulation of HUS AP had a decreased HLA-DR expression, which correlated with severity. In conclusion, the Mo population from HUS AP patients presents phenotypic and functional alterations. The contribution to the pathogenesis and the possible scenarios that led to these changes are discussed.

  1. The differential effects of Autism and Down's syndrome on sexual behavior.

    Science.gov (United States)

    Ginevra, Maria Cristina; Nota, Laura; Stokes, Mark A

    2016-01-01

    Although sexuality plays a major role in the socialization of people, few studies have examined the sexual behaviors of individuals with developmental disabilities. Because of this, we decided to investigate sexuality in adolescents with autism spectrum disorder (ASD) and Down's syndrome (Ds) and to compare them with typically developing adolescents, by surveying their parents. Specifically, it was hypothesized that young people with ASD would display lower levels over five domains: social behavior, privacy, sex education, sexual behavior, and parental concerns, than peers with Ds and typically developing young people. In addition, we sought to verify developmental trends in five domains with age for each group. Overall, 269 parents participated; 94 parents of typically developing adolescents, 93 parents of adolescents diagnosed with Ds, and 82 parents of adolescents diagnosed with ASD. Participants were surveyed with a Sexual Behavior Scale developed by Stokes and Kaur [] that assesses parents' reports of their child's: social behavior, privacy awareness, sex education, sexual behavior and parental concerns about the child's behaviors. It was found that three groups were significantly different on all five domains, adolescents with ASD reportedly displaying lower levels than other groups. Moreover, there was a significant improvement in knowledge of privacy and parental concerns with age for adolescents with ASD and a decline in sex education for adolescents with Ds. The results obtained emphasize the need to train adolescents with developmental disability, and especially for adolescents with ASD through sex education programs.

  2. 辨证论治高脂血症%Syndrome Differentiation and Treatment of Hyperlipemia

    Institute of Scientific and Technical Information of China (English)

    林南元

    2014-01-01

    高脂血症,一般情况下无明显的临床症状,引起相关的疾病后,才有症状,故治疗本病,以实验室检查指标为依据。从病因病机、辨证论治方面论述了中医治疗高脂血症,说明中医治疗高脂血症临床效果显著。中药对高脂血症具有可靠的疗效,价格便宜,副作用较少,在治疗高脂血症方面广阔的前景。%Hyperlipidemia, no obvious clinical symptoms in general, cause related diseases, only symptoms, the treatment of the disease, according to index of laboratory examination. From the etiology and pathogenesis, syndrome dif erentiation and treatment aspects of traditional Chinese medicine in treating hyperlipidemia, TCM therapy clinical ef ect shows significant hyperlipidemia. Traditional Chinese medicine has reliable therapeutic ef ect on hyperlipemia, cheap price, less side effects, wide in the treatment of hyperlipidemia in prospect.

  3. Magnitude representations in Williams syndrome: differential acuity in time, space and number processing.

    Directory of Open Access Journals (Sweden)

    Laurence Rousselle

    Full Text Available For some authors, the human sensitivity to numerosities would be grounded in our ability to process non-numerical magnitudes. In the present study, the developmental relationships between non numerical and numerical magnitude processing are examined in people with Williams syndrome (WS, a genetic disorder known to associate visuo-spatial and math learning disabilities. Twenty patients with WS and 40 typically developing children matched on verbal or non-verbal abilities were administered three comparison tasks in which they had to compare numerosities, lengths or durations. Participants with WS showed lower acuity (manifested by a higher Weber fraction than their verbal matched peers when processing numerical and spatial but not temporal magnitudes, indicating that they do not present a domain-general dysfunction of all magnitude processing. Conversely, they do not differ from non-verbal matched participants in any of the three tasks. Finally, correlational analyses revealed that non-numerical and numerical acuity indexes were both related to the first mathematical acquisitions but not with later arithmetical skills.

  4. [Chinese herbal medicine for patients with mild to moderate Alzheimer disease based on syndrome differentiation: a randomized controlled trial].

    Science.gov (United States)

    Yu, Lu; Lin, Shui-miao; Zhou, Ru-qian; Tang, Wei-jun; Huang, Pin-xian; Dong, Ying; Wang, Jian; Yu, Zhi-hua; Chen, Jiu-lin; Wei, Li; Xing, San-li; Cao, Hui-juan; Zhao, Hong-bin

    2012-07-01

    Alzheimer disease (AD) is a chronic neurodegenerative disease that is characterized by its gradual progression. At present, the cause and mechanism of AD are yet unclear, and there is no effective therapy for treating it. With development of global aging, the prevalence rate of AD is increasing. The life quality of elderly people is affected severely by AD that is ultimately life-threatening. Recently, study on treating AD with traditional Chinese medicine (TCM) has deepened. To explore the therapeutic effects of a syndrome differentiation-based TCM regime in treating patients with mild to moderate AD for improving cognition, and to evaluate the changes in brain function of AD patients observed by resting-state functional magnetic resonance imaging (fMRI) technique. Adopting the internationally recognized criteria developed by National Institute of Neurological and Communicative Diseases and Stroke/Alzheimer's Disease and Related Disorders Association, the clinical trial was conducted on 131 patients with mild to moderate AD from 5 communities and 7 social welfare institutions. Participants were accepted after informed consent was received, and laboratory tests and a head imaging study were conducted. The patients were randomly divided into Chinese medicine group (CMG) (66 cases) or Western medicine group (WMG) (65 cases). Patients in the CMG were treated monthly with Chinese medicine according to syndrome differentiation. Patients in the WMG were treated with donepezil at a dose of 5 mg once daily. The therapeutic course lasted 48 weeks. The scores of Mini-Mental State Examination (MMSE), Fuld Object-Memory Evaluation (FOM), Block Design (BD) and Digit Span (DS) were used to evaluate the cognitive function; resting-state fMRI was used for observing brain function. The questionnaires and fMRI were performed before and after treatments. The cognitive functions of the patients in the CMG and WMG were improved after treatment. MMSE score was improved significantly in

  5. A phylogenetic strategy based on a legume-specific whole genome duplication yields symbiotic cytokinin type-A Response Regulators

    NARCIS (Netherlands)

    Camp, Op den R.; Mita, De S.; Lillo, A.; Cao, Q.; Limpens, E.H.M.; Bisseling, T.; Geurts, R.

    2011-01-01

    Legumes host their rhizobium symbiont in novel root organs, called nodules. Nodules originate from differentiated root cortical cells that de-differentiate and subsequently form nodule primordia, a process controlled by cytokinin. A whole genome duplication (WGD) has occurred at the root of the legu

  6. A phylogenetic strategy based on a legume-specific whole genome duplication yields symbiotic cytokinin type-A Response Regulators

    NARCIS (Netherlands)

    Camp, Op den R.; Mita, De S.; Lillo, A.; Cao, Q.; Limpens, E.H.M.; Bisseling, T.; Geurts, R.

    2011-01-01

    Legumes host their rhizobium symbiont in novel root organs, called nodules. Nodules originate from differentiated root cortical cells that de-differentiate and subsequently form nodule primordia, a process controlled by cytokinin. A whole genome duplication (WGD) has occurred at the root of the

  7. Metabolic Adaptation after Whole Genome Duplication

    NARCIS (Netherlands)

    Hoek, M.J.A. van; Hogeweg, P.

    2009-01-01

    Whole genome duplications (WGDs) have been hypothesized to be responsible for major transitions in evolution. However, the effects of WGD and subsequent gene loss on cellular behavior and metabolism are still poorly understood. Here we develop a genome scale evolutionary model to study the dynamics

  8. Fetal cyst reveling retroperitoneal enteric duplication

    Directory of Open Access Journals (Sweden)

    Imene Dahmane Ayadi

    2017-01-01

    Full Text Available Retroperitoneum is a very uncommon site of enteric duplication (ED. We report a new case of retroperitoneal ED cyst suspected in utero. Prenatal ultrasound showed an abdominal cystic mass. Noncommunicating retroperitoneal ED cyst measuring 70 mm × 30 mm was resected. Histopathologic examination confirmed the diagnosis.

  9. Gastric Duplication Cyst Causing Gastric Outlet Obstruction

    Directory of Open Access Journals (Sweden)

    Muna Al Shehi

    2012-07-01

    Full Text Available This is a case report of a newborn baby with gastric duplication cyst presented with non-bilious vomiting and upper abdominal distension. The diagnosis was suspected clinically and established by ultrasonography and computed tomography. The cyst was completely excised with uneventful recovery.

  10. Organising European technical documentation to avoid duplication.

    Science.gov (United States)

    Donawa, Maria

    2006-04-01

    The development of comprehensive accurate and well-organised technical documentation that demonstrates compliance with regulatory requirements is a resource-intensive, but critically important activity for medical device manufacturers. This article discusses guidance documents and method of organising technical documentation that may help avoid costly and time-consuming duplication.

  11. Incomplete urethral duplication in an adult male.

    LENUS (Irish Health Repository)

    Davis, N F

    2012-09-01

    Urethral duplication is a rare congenital anomaly with less than 200 cases reported. It predominantly occurs in males and is nearly always diagnosed in childhood or adolescence. It is defined as a complete second passage from the bladder to the dorsum of the penis or as an accessory pathway that ends blindly on the dorsal or ventral surface.

  12. Decomposition of Parallel Copies with Duplication

    Directory of Open Access Journals (Sweden)

    G. N. Purohit

    2012-05-01

    Full Text Available SSA form is becoming more popular in the context of JIT compilation since it allows the compiler to perform important optimizations like common sub-expression elimination or constant propagation without the drawbacks of keeping huge data structures in memory or requiring a lot of computing power. The recent approach of SSA-based register allocation performs SSA elimination after register allocation. F. Bouchez et al. proposed parallel copy motion to prevent the splitting of edges when going out of colored SSA by moving the code that should be assigned to the edges to a more convenient place. Duplications in parallel copies pose some problems when moving them. In this paper an approach has been developed to decompose parallel copies so that duplications can be handled separately and parallel copies can be easily moved away without duplication. A simple and elegant application is moving duplicated copies out of critical edges. This is often beneficial compared to the alternative splitting the edge.

  13. An atypical 0.8 Mb inherited duplication of 22q11.2 associated with psychomotor impairment.

    Science.gov (United States)

    Pebrel-Richard, Céline; Kemeny, Stéphan; Gouas, Laetitia; Eymard-Pierre, Eléonore; Blanc, Nathalie; Francannet, Christine; Tchirkov, Andreï; Goumy, Carole; Vago, Philippe

    2012-11-01

    Microduplications 22q11.2 have been recently characterized as a new genomic duplication syndrome showing an extremely variable phenotype ranging from normal or mild learning disability to multiple congenital defects and sharing some overlapping features with DiGeorge/velocardiofacial syndrome (DGS/VCFS), including heart defects, urogenital abnormalities and velopharyngeal insufficiency. We present an atypical and inherited 0.8-Mb duplication at 22q11.2, in the distal segment of the DGS/VCFS syndrome typically deleted region (TDR), in a 3-year-old boy with motor delay, language disorders and mild facial phenotype. This 22q11.2 microduplication was identified by MLPA, designed to detect recurrent microdeletions and microduplications of chromosomal regions frequently involved in mental retardation syndromes and was further characterized by aCGH. The duplicated region encompasses 14 genes, excluding TBX1 but including CRKL, ZNF74, PIK4CA, SNAP29 and PCQAP known to contribute to several aspects of the DGS/VCFS phenotype. To the best of our knowledge, only one case of an isolated duplication in the distal segment of the TDR between chromosome 22-specific low-copy repeats B (LCR22-B) and D (LCR22-D) has been published, but the present report is the first one with a detailed description of physical and developmental features in a patient carrying this kind of atypical 22q11.2 duplication. This case illustrates the importance of reporting unusual 22q11.2 duplications to further evaluate the incidence of these rearrangements in the general population and to improve genotype-phenotype correlations and genetic counseling.

  14. Duplicated left pulmonary artery: an unknown disease? Three case reports and review of the literature.

    Science.gov (United States)

    Giudici, Valentina; Kanani, Mazyar; Muthialu, Nagarajan; Carr, Michelle; Calder, Alistair D; Owens, Catherine M; Cook, Andrew C; Marek, Jan

    2016-02-01

    We report three cases of an abnormal finding of duplicated left pulmonary artery: two of these occurring in children with Kabuki syndrome and configuring the setting of a pseudo-pulmonary sling without any clinical or cardiac cross-sectional evidence of tracheal compression. The other case instead represents duplicated left pulmonary artery with pulmonary sling caused by the retro-tracheal course of the lower left pulmonary artery associated with "Christmas Tree" arrangement of the tracheo-bronchial system. In both patients with pseudo-pulmonary sling and Kabuki syndrome, the abnormal finding was incidental during echocardiographic examination and neither of the patients required surgical repair for the condition. To the best of our knowledge, they represent the third and fourth cases in which such an anomaly of the pulmonary artery branches not forming a sling is seen in association with Kabuki syndrome. Another case represents our second experience and the second case reported in literature with duplicated left pulmonary artery in the setting of a complex tracheal anatomy. In this symptomatic patient, surgical repair of atrial septal defect and relief of the vascular ring were indicated, and the surgical repair was performed successfully at the age of 3 years.

  15. Cyclin E in centrosome duplication and reduplication in sea urchin zygotes.

    Science.gov (United States)

    Schnackenberg, Bradley J; Marzluff, William F; Sluder, Greenfield

    2008-12-01

    When protein synthesis is completely blocked from before fertilization, the sea urchin zygote arrests in first S phase and the paternal centrosome reduplicates multiple times. However, when protein synthesis is blocked starting in prophase of first mitosis, the zygote divides and the blastomeres arrest in a G1-like state. The centrosome inherited from this mitosis duplicates only once in each blastomere for reasons that are not understood. The late G1 rise in cyclin E/cdk2 kinase activity initiates centrosome duplication in mammalian cells and its activity is needed for centrosome duplication in Xenopus egg extracts. Since the half-time for cyclin E turnover is normally approximately 1 h in sea urchin zygotes, the different behaviors of centrosomes during G1 and S phase arrests could be due to differential losses of cyclin E and its associated kinase activities at these two arrest points. To better understand the mechanisms that limit centrosome duplication, we characterize the levels of cyclin E and its associated kinase activity at the S phase and G1 arrest points. We first demonstrate that cyclin E/cdk2 kinase activity is required for centrosome duplication and reduplication in sea urchin zygotes. Next we find that cyclin E levels and cyclin E/cdk2 kinase activities are both constitutively and equivalently elevated during both the S phase and G1 arrests. This indicates that centrosome duplication during the G1 arrest is limited by a block to reduplication under conditions permissive for duplication. The cytoplasmic conditions of S phase, however, abrogate this block to reduplication.

  16. Cecal duplication cyst: A rare case report with review of literature

    Directory of Open Access Journals (Sweden)

    Vikas Shyam Raj Singh

    2016-01-01

    Full Text Available Duplication cysts of the alimentary tract are very rare congenital anomalies. Out of all these cases, two-thirds of them manifest before the age of 2 years. They are common in ileum, but very rare in cecum. Some of them may remain asymptomatic and present in the adulthood. The lesion may be tubular or cystic. Several theories have been postulated, but true etiology is not known. We hereby report a case of a 10-year-old female who presented with abdominal pain in the pediatric surgery outpatient department. Diagnosis of cecal duplication cyst was confirmed on histopathology. This report implies that although alimentary tract duplications are rare, they should be considered in the differential diagnosis of children who presents with acute abdominal pain.

  17. Expression patterns of DLK1 and INSL3 identify stages of Leydig cell differentiation during normal development and in testicular pathologies, including testicular cancer and Klinefelter syndrome

    DEFF Research Database (Denmark)

    Lottrup, G; Nielsen, J E; Maroun, L L

    2014-01-01

    STUDY QUESTION: What is the differentiation stage of human testicular interstitial cells, in particular Leydig cells (LC), within micronodules found in patients with infertility, testicular cancer and Klinefelter syndrome? SUMMARY ANSWER: The Leydig- and peritubular-cell populations in testes....... MAIN RESULTS AND THE ROLE OF CHANCE: DLK1, INSL3 and COUP-TFII expression changed during normal development and was linked to different stages of LC differentiation: DLK1 was expressed in all fetal LCs, but only in spindle-shaped progenitor cells and in a small subset of polygonal LCs in the normal....... WIDER IMPLICATIONS OF THE FINDINGS: The population of LCs, especially those clustered in large nodules, are heterogeneous and comprise cells at different stages of differentiation. The study demonstrated that the differentiation and function of LCs, and possibly also peritubular cells, are impaired...

  18. Differential expression of Werner and Bloom syndrome genes in the peripheral blood of HIV-1 infected patients.

    Science.gov (United States)

    Bordi, Licia; Gioia, Cristiana; Lalle, Eleonora; Piselli, Pierluca; Poccia, Fabrizio; Capobianchi, Maria R; Amendola, Alessandra

    2007-02-01

    Human immunodeficiency virus (HIV)-induced immunodeficiency and immune-system aging share some analogies. Since Werner (WRN) and Bloom (BLM) helicases are crucial in cell repair and aging, their peripheral blood mononuclear cells (PBMC) mRNA levels were compared in HIV-1 infected patients and in normal donors. The mean levels of WRN mRNA were 3.7-fold higher in PBMCs from HIV-1 infected individuals in comparison to healthy donors, whereas BLM mRNA mean levels were slightly higher, although not significantly. WRN increase was positively correlated to CD4 and CD8 T-cell numbers, and also the percentage of naive T lymphocytes, and was observed also in T-cell subsets. Interestingly, a general trend toward increased WRN mRNA levels in individuals with lower viral load was observed, without association with patient age, time of seroconversion, and on/off antiretroviral therapy regimen. On the whole, this study shows that WRN and BLM are differentially modulated in HIV infection, as WRN--but not BLM--is significantly increased, suggesting that mechanisms different from defect or loss of helicase function, observed in WRN and BLM syndromes, may be at the basis of T-cell aging in HIV infection.

  19. Treating Presbycusis Based on Syndrome Differentiation from Kidney%从肾论治老年性聋

    Institute of Scientific and Technical Information of China (English)

    杨雪

    2013-01-01

    “肾主耳”理论是中医藏象学说中的重要内容,文章根据老年人的生理特点,运用中医理论辨证分析老年性聋与肾的关系.提出老年性聋多因肾虚至髓海不足,耳失濡养;扰乱气机,气血运行不畅,耳窍闭塞.故而治疗应注重补肾通窍法,在临床中防治老年性聋具有重大意义.%Association of kidney with the ears is important to visceral manifestation of traditional Chinese medicine. This article bases on the physiological characteristics of old men, using traditional Chinese medicine theory to analyze the relationship between presbycusis and the kidney based on syndrome differentiation. It is proposed the reason of presbycusis is insufficiency of marrow-sea which can lead to the lack nourishing, disrupting qi and blood movement, giving rise to blocking the ear because of kidney deficiency. Thus we should pay attention to tonifying kidney and opening the ears, which is of great significance for the clinical prevention of senile presbycusis.

  20. Total and differential white blood cell counts, high-sensitivity C-reactive protein, and the metabolic syndrome in non-affective psychoses.

    Science.gov (United States)

    Miller, Brian J; Mellor, Andrew; Buckley, Peter

    2013-07-01

    The metabolic syndrome is highly prevalent in patients with schizophrenia, and is associated with a state of chronic, low-grade inflammation. Schizophrenia is also associated with increased inflammation, including aberrant blood levels of pro-inflammatory cytokines and high-sensitivity C-reactive protein (hsCRP). The purpose of this study is to investigate the relationship between total and differential white blood cell (WBC) counts, hsCRP, and the metabolic syndrome in patients with schizophrenia and related non-affective psychoses. Fifty-nine inpatients and outpatients age 18-70 with non-affective psychotic disorders and 22 controls participated in this cross-sectional study. Subjects had a fasting blood draw between 8 and 9 am for glucose, lipids, total and differential WBC counts, and hsCRP. Vital signs and anthropometric measures were obtained. Patients with non-affective psychosis and the metabolic syndrome had significantly higher total WBC counts, monocytes, and hsCRP levels than patients without the metabolic syndrome (p≤0.04 for each). In binary logistic regression analyses, after controlling for potential confounding effects of age, race, sex, age at first hospitalization for psychosis, parental history of diabetes, smoking, and psychotropic medications, total WBC count, monocytes, and hsCRP were significant predictors of metabolic syndrome in patients (p≤0.04 for each). hsCRP was also a significant predictor of increased waist circumference and triglycerides in patients (p≤0.05 for each). Our findings suggest that measurement of total and differential WBC counts and hsCRP blood levels may be germane to the clinical care of patients with schizophrenia and related disorders, and support an association between inflammation and metabolic disturbance in these patients.

  1. [Standardization of syndrome differentiation based on stages for breast cancer: a significant and updating topic on mastology of traditional Chinese medicine].

    Science.gov (United States)

    Lin, Yi; Chen, Qian-Jun; Liu, Peng-Xi

    2006-09-01

    The incidence of breast cancer increased rapidly in recent years. Breast cancer has become the most frequent malignant tumor of female especially in the developed regions. Traditional Chinese medicine (TCM) is effective in treating breast cancer, but its theories appear hysteretic, restricting the progress in clinical practice, teaching and research of TCM in the treatment of breast cancer. This article described the significance and urgency to work out the standardization of syndrome differentiation based on stages for breast cancer and put it into practice. It also analyzed the foundations, ideas and approaches of the research of standardization of syndrome differentiation based on stages for breast cancer in light of the changes of spectrum of diseases, the weaknesses of modern medicine in treating breast cancer, and the existed problems in the update clinical practice.

  2. [Piriformis muscle syndrome: etiology, pathogenesis, clinical manifestations, diagnosis, differential diagnosis and therapy].

    Science.gov (United States)

    Grgić, Vjekoslav

    2013-01-01

    The term 'piriformis syndrome' (PS), introduced by Robinson in 1947, implies a group of signs and symptoms caused by piriformis muscle (PM) disorders. Since PM disorders lead to irritation/compression of the anatomic structures passing under its belly, the main clinical PS signs and symptoms are actually the clinical signs and symptoms of irritation/ compression of neural and vascular structures passing through the infrapiriform foramen: sciatic nerve/SN, inferior gluteal nerve, posterior femoral cutaneous nerve, pudendal nerve, inferior gluteal artery and vein and inferior pudendal artery and vein. The clinical picture is usually dominated by signs and symptoms of irritation/compression of SN (SN irritation --> low back and buttock pain, sciatica,paresthesias in distribution of SN; SN compression --> low back and buttock pain,sciatica, paresthesias and neurologic deficit in distribution of SN). Irritation/compression of other structures can result in the following signs and symptoms: inferior gluteal nerve --> atrophy of gluteal muscles; posterior femoral cutaneous nerve --> pain, paresthesias and sensory disturbances in the posterior thigh; pudendal nerve --> pudendal neuralgia, painful sexual intercourse (dyspareunia), sexual dysfunction, urination and defecation problems; inferior gluteal artery --> ischemic buttock pain; inferior pudendal artery --> ischemic pain in the area of external sex organs, perineum and rectum, sexual dysfunction, urination and defecation problems; inferior gluteal vein --> venous stasis in gluteal area; inferior pudendal vein --> venous stasis in external sex organs and rectum. Functional/non-organic and organic PM disorders can cause PS: spasm, shortening, hypertrophy, anatomic variations, edema, fibrosis, adhesions, hematoma, atrophy, cyst, bursitis, abscess, myositis ossificans, endometriosis, tumors (functional disorders: PM spasm and shortening). The most common causes for PS are PM spasm, shortening and hypertrophy and anatomic

  3. Dispersal syndrome differentiation of Pinus armandii in Southwest China: Key elements of a potential selection mosaic

    Science.gov (United States)

    Chen, Fan; Chen, Jin

    2011-11-01

    Pinus armandii is a species of pine native to China with a wide geographical distribution and large-wingless seeds (about 300 mg). The study is to determine the variation in seed dispersal traits among populations within a relative small geographic scale and furthermore to explore if the trait differentiation results in the differences in dispersers, in particular nutcrackers ( Nucifraga caryocatactes) and scatter-hoarding rodents. We conducted studies at five sites at different elevations in northwest Yunnan Province. The study sites are separated by 10-200 km and divided into populations partly isolated by mountains and rivers. The cone and seed traits diverged significantly among the five study sites while the traits among individual trees at each site did not differ significantly. Nutcrackers and scatter-hoarding rodents presented conflicting preference in cone and seed traits: nutcrackers preferred smaller cones with smaller seeds, which increased the foraging efficiency of nutcrackers; while scatter-hoarding rodents tended to cache larger seeds. Consistent with variation in preferences by nutcrackers and scatter-hoarding rodents, in nutcracker-dominated sites, pines were characterized by smaller cones, smaller seeds, and thinner seed coats; while in sites where nutcrackers were not abundant, pines had relatively larger cones with larger seeds, which could enhance caching activities by scatter-hoarding rodents. The study provided some key elements for potential selection mosaic on cone and seed traits of a long-lived perennial tree among populations with limited geographical range.

  4. Differentiation of ICOS+ and ICOS- recent thymic emigrant regulatory T cells (RTE T regs) during normal pregnancy, pre-eclampsia and HELLP syndrome.

    Science.gov (United States)

    Wagner, M I; Jöst, M; Spratte, J; Schaier, M; Mahnke, K; Meuer, S; Zeier, M; Steinborn, A

    2016-01-01

    Two different subsets of naturally occurring regulatory T cells (nTregs), defined by their expression of the inducible co-stimulatory (ICOS) molecule, are produced by the human thymus. To examine the differentiation of ICOS(+) and ICOS(-) CD45RA(+) CD31(+) recent thymic emigrant (RTE) T regs during normal pregnancy and in the presence of pre-eclampsia or haemolysis elevated liver enzymes low platelet (HELLP)-syndrome, we used six-colour flow cytometric analysis to determine the changes in the composition of the ICOS(+) and ICOS(-) T reg pools with CD45RA(+) CD31(+) RTE T regs, CD45RA(+) CD31(-) mature naive (MN) T regs, CD45RA(-) CD31(+) and CD45RA(-) CD31(-) memory Tregs. With the beginning of pregnancy until term, we observed a strong differentiation of both ICOS(+) and ICOS(-) CD45RA(+) CD31(+) RTE, but not CD45RA(+) CD31(-) MN T regs, into CD45RA(-) CD31(-) memory T regs. At the end of pregnancy, the onset of spontaneous term labour was associated with a significant breakdown of ICOS(+) CD45RA(-) CD31(-) memory T regs. However, in the presence of pre-eclampsia, there was a significantly increased differentiation of ICOS(+) and ICOS(-) CD45RA(+) CD31(+) RTE T regs into CD45RA(-) CD31(+) memory T regs, wherein the lacking differentiation into CD45RA(-) CD31(-) memory T regs was partially replaced by the increased differentiation of ICOS(+) and ICOS(-) CD45RA(+) CD31(-) MN Tregs into CD45RA(-) CD31(-) memory T regs. In patients with HELLP syndrome, this alternatively increased differentiation of CD45RA(-) CD31(-) MN T regs seemed to be exaggerated, and presumably restored the suppressive activity of magnetically isolated ICOS(+) and ICOS(-) T regs, which were shown to be significantly less suppressive in pre-eclampsia patients, but not in HELLP syndrome patients. Hence, our findings propose that the regular differentiation of both ICOS(+) and ICOS(-) CD45RA(+) CD31(+) RTE T regs ensures a healthy pregnancy course, while their disturbed differentiation is

  5. Importance of fractional exhaled nitric oxide in the differentiation of asthma–COPD overlap syndrome, asthma, and COPD

    Directory of Open Access Journals (Sweden)

    Chen FJ

    2016-09-01

    Full Text Available Feng-jia Chen,* Xin-yan Huang,* Yang-li Liu, Geng-peng Lin, Can-mao Xie Department of Respiratory Disease, The First Affiliated Hospital, Sun Yat-sen University, Guangzhou, People’s Republic of China *These authors contributed equally to this work Background: Fractional exhaled nitric oxide (FeNO is an easy, sensitive, reproducible, and noninvasive marker of eosinophilic airway inflammation. Accordingly, FeNO is extensively used to diagnose and manage asthma. Patients with COPD who share some of the features of asthma have a condition called asthma–COPD overlap syndrome (ACOS. The feasibility of using FeNO to differentiate ACOS patients from asthma and COPD patients remains unclear. Methods: From February 2013 to May 2016, patients suspected with asthma and COPD through physician’s opinion were subjected to FeNO measurement, pulmonary function test (PFT, and bronchial hyperresponsiveness or bronchodilator test. Patients were divided into asthma alone group, COPD alone group, and ACOS group according to a clinical history, PFT values, and bronchial hyperresponsiveness or bronchodilator test. Receiver operating characteristic (ROC curves were obtained to elucidate the clinical functions of FeNO in diagnosing ACOS. The optimal operating point was also determined. Results: A total of 689 patients were enrolled in this study: 500 had asthma, 132 had COPD, and 57 had ACOS. The FeNO value in patients with ACOS was 27 (21.5 parts per billion (ppb; median [interquartile range], which was significantly higher than that in the COPD group (18 [11] ppb. The area under the ROC curve was estimated to be 0.783 for FeNO. Results also revealed an optimal cutoff value of >22.5 ppb FeNO for differentiating ACOS from COPD patients (sensitivity 70%, specificity 75%.Conclusion: FeNO measurement is an easy, noninvasive, and sensitive method for differentiating ACOS from COPD. This technique is a new perspective for the management of COPD patients. Keywords

  6. Demonstration of the Coexistence of Duplicated LH Receptors in Teleosts, and Their Origin in Ancestral Actinopterygians.

    Directory of Open Access Journals (Sweden)

    Gersende Maugars

    Full Text Available Pituitary gonadotropins, FSH and LH, control gonad activity in vertebrates, via binding to their respective receptors, FSHR and LHR, members of GPCR superfamily. Until recently, it was accepted that gnathostomes possess a single FSHR and a single LHR, encoded by fshr and lhcgr genes. We reinvestigated this question, focusing on vertebrate species of key-phylogenetical positions. Genome analyses supported the presence of a single fshr and a single lhcgr in chondrichthyans, and in sarcopterygians including mammals, birds, amphibians and coelacanth. In contrast, we identified a single fshr but two lhgcr in basal teleosts, the eels. We further showed the coexistence of duplicated lhgcr in other actinopterygians, including a non-teleost, the gar, and other teleosts, e.g. Mexican tetra, platyfish, or tilapia. Phylogeny and synteny analyses supported the existence in actinopterygians of two lhgcr paralogs (lhgcr1/ lhgcr2, which do not result from the teleost-specific whole-genome duplication (3R, but likely from a local gene duplication that occurred early in the actinopterygian lineage. Due to gene losses, there was no impact of 3R on the number of gonadotropin receptors in extant teleosts. Additional gene losses during teleost radiation, led to a single lhgcr (lhgcr1 or lhgcr2 in some species, e.g. medaka and zebrafish. Sequence comparison highlighted divergences in the extracellular and intracellular domains of the duplicated lhgcr, suggesting differential properties such as ligand binding and activation mechanisms. Comparison of tissue distribution in the European eel, revealed that fshr and both lhgcr transcripts are expressed in the ovary and testis, but are differentially expressed in non-gonadal tissues such as brain or eye. Differences in structure-activity relationships and tissue expression may have contributed as selective drives in the conservation of the duplicated lhgcr. This study revises the evolutionary scenario and nomenclature of

  7. Syndrome Differentiation and Treatment Experience of Eczema by Xiaofeng Powder%消风散加减治疗湿疹经验

    Institute of Scientific and Technical Information of China (English)

    周宝宽; 周探

    2013-01-01

    Objective:To summarize syndrome differentiation and treatment experience of eczema in clinic. Methods : Discuss etiopathogenisis, pathogenesis, pattern of syndrome, method of treatment, formulae and medicinals based on medical records. Results : Etiopathogenisis and pathogenesis of eczema include wind, heat and dampness evil in the exterior, natural endowment deficiency, insufficiency of the spleen resulting in production of dampness, skin damage by blood deficiency and wind dryness. Treatment principles of eczema are eliminating wind, eliminating heat, damp elimination, moisturizing dryness-syndrome, invigorating the spleen, alleviating itching. The formula for eczema is modified Xiaofeng decoction. Conclusions : Syndrome differentiation and treatment shows a better therapeutic effect on eczema.%目的:总结周宝宽主任医师辨治湿疹经验方法:以医案形式阐述湿疹的病因病机、证型、治法、方药.结果:湿疹病因病机,外为风湿热邪,内为禀赋不耐,脾虚生湿,血虚风燥或内外两邪相合致邪浸肌肤.治疗原则为祛风、清热、利湿、润燥、健脾、止痒.常用消风散加减.结论:辨证论治湿疹疗效显著.

  8. Chinese Herbal Decoction Based on Syndrome Differentiation as Maintenance Therapy in Patients with Extensive-Stage Small-Cell Lung Cancer: An Exploratory and Small Prospective Cohort Study

    Directory of Open Access Journals (Sweden)

    Rui Liu

    2015-01-01

    Full Text Available Objective. To investigate the treatment effect and treatment length of Chinese herbal decoction (CHD as maintenance therapy on patients with extensive-stage small-cell lung cancer (ES-SCLC and to reflect the real syndrome differentiation (Bian Zheng practices of traditional Chinese medicine (TCM. Patients and Methods. Different CHDs were prescribed for each patient based on syndrome differentiation. The length of CHD treatment was divided into two phases for analyzing progression-free survival (PFS and postprogression survival (PPS. Results. Three hundred and fifty-seven CHDs were prescribed based on syndrome differentiation during the study period. Median PFS was significantly longer in patients who received CHD >3 months than patients who received CHD ≤3 months in the first phase (8.7 months versus 4.5 months; hazard ratio (HR, 0.52; 95% confidence interval (CI, 0.41–0.99; P=0.0009. Median PPS was significantly longer in patients who received CHD >7 months than patients who received CHD ≤7 months in the second phase (11.7 months versus 5.1 months; HR, 2.32; 95% CI, 1.90–2.74; P=0.002. Conclusion. CHD could improve PFS and PPS, which are closely related to treatment time and deepness of response of first-line therapy. In addition, CHD could improve body function and keep patients in a relatively stable state.

  9. Presentation and Surgical Management of Duodenal Duplication in Adults

    Directory of Open Access Journals (Sweden)

    Caroline C. Jadlowiec

    2015-01-01

    Full Text Available Duodenal duplications in adults are exceedingly rare and their diagnosis remains difficult as symptoms are largely nonspecific. Clinical presentations include pancreatitis, biliary obstruction, gastrointestinal bleeding from ectopic gastric mucosa, and malignancy. A case of duodenal duplication in a 59-year-old female is presented, and her treatment course is reviewed with description of combined surgical and endoscopic approach to repair, along with a review of historic and current recommendations for management. Traditionally, gastrointestinal duplications have been treated with surgical resection; however, for duodenal duplications, the anatomic proximity to the biliopancreatic ampulla makes surgical management challenging. Recently, advances in endoscopy have improved the clinical success of cystic intraluminal duodenal duplications. Despite these advances, surgical resection is still recommended for extraluminal tubular duplications although combined techniques may be necessary for long tubular duplications. For duodenal duplications, a combined approach of partial excision combined with mucosal stripping may offer advantage.

  10. Duplication cysts: Diagnosis, management, and the role of endoscopic ultrasound.

    Science.gov (United States)

    Liu, Roy; Adler, Douglas G

    2014-07-01

    Gastrointestinal tract duplication cysts are rare congenital gastrointestinal malformation in young patients and adults. They consist of foregut duplication cysts, small bowel duplication cysts, and large bowel duplication cysts. Endoscopic ultrasound (EUS) has been widely used as a modality for the evaluation and diagnosis of duplication cysts. EUS is the diagnostic tool of choice to investigate duplication cysts since it can distinguish between solid and cystic lesions. The question of whether or not to perform EUS-fine needle aspiration (EUS-FNA) on a lesion suspected of being a duplication cyst is controversial as these lesions can become infected with significant consequences, although EUS-FNA is often required to obtain a definitive diagnosis and to rule out more ominous lesions. This manuscript will review the literature on duplication cysts throughout the body and will also focus on the role of EUS and FNA with regards to these lesions.

  11. Genetics Home Reference: aromatase excess syndrome

    Science.gov (United States)

    ... Sources for This Page Fukami M, Shozu M, Ogata T. Molecular bases and phenotypic determinants of aromatase ... T, Nishigaki T, Yokoya S, Binder G, Horikawa R, Ogata T. Aromatase excess syndrome: identification of cryptic duplications ...

  12. Reliable multi-label learning via conformal predictor and random forest for syndrome differentiation of chronic fatigue in traditional Chinese medicine.

    Directory of Open Access Journals (Sweden)

    Huazhen Wang

    Full Text Available OBJECTIVE: Chronic Fatigue (CF still remains unclear about its etiology, pathophysiology, nomenclature and diagnostic criteria in the medical community. Traditional Chinese medicine (TCM adopts a unique diagnostic method, namely 'bian zheng lun zhi' or syndrome differentiation, to diagnose the CF with a set of syndrome factors, which can be regarded as the Multi-Label Learning (MLL problem in the machine learning literature. To obtain an effective and reliable diagnostic tool, we use Conformal Predictor (CP, Random Forest (RF and Problem Transformation method (PT for the syndrome differentiation of CF. METHODS AND MATERIALS: In this work, using PT method, CP-RF is extended to handle MLL problem. CP-RF applies RF to measure the confidence level (p-value of each label being the true label, and then selects multiple labels whose p-values are larger than the pre-defined significance level as the region prediction. In this paper, we compare the proposed CP-RF with typical CP-NBC(Naïve Bayes Classifier, CP-KNN(K-Nearest Neighbors and ML-KNN on CF dataset, which consists of 736 cases. Specifically, 95 symptoms are used to identify CF, and four syndrome factors are employed in the syndrome differentiation, including 'spleen deficiency', 'heart deficiency', 'liver stagnation' and 'qi deficiency'. THE RESULTS: CP-RF demonstrates an outstanding performance beyond CP-NBC, CP-KNN and ML-KNN under the general metrics of subset accuracy, hamming loss, one-error, coverage, ranking loss and average precision. Furthermore, the performance of CP-RF remains steady at the large scale of confidence levels from 80% to 100%, which indicates its robustness to the threshold determination. In addition, the confidence evaluation provided by CP is valid and well-calibrated. CONCLUSION: CP-RF not only offers outstanding performance but also provides valid confidence evaluation for the CF syndrome differentiation. It would be well applicable to TCM practitioners and

  13. 血管性痴呆的中医辨证规律探讨%Study on rule of TCM syndrome differentiation on vascular dementia

    Institute of Scientific and Technical Information of China (English)

    韩培海; 高思山; 曹本格; 杨琴

    2012-01-01

    Objective To investigation the rule of TCM syndrome differentiation on vascular dementia,and to guide clinic therapy.Methods The vascular dementia TCM syndrome differentiation scale (SDSVD) was used for TCM syndrome differentiation of 60 cases of vascular dementia.Results The Vascular dementia has such TCM syndromes:deficiency of kidney-essence accounting for 28.3%,turbid phlegm blocking the clear orifices accounting for 23.3%,obstruction of collaterals by blood stasis accounting for 21.7%,liver Yang adverse rising accounting for 10.0%,fire-heat prosperous accounting for 8.3%,metabolic waste in viscera accounting for 8.3%.QI and blood paucity accounting for 3.3%.Conclusion The Vascular dementia has a clear TCM syndrome regularity,the syndromes of deficiency of kidney-essence accounting,turbid phlegm blocking the clear orifices,and obstruction of collaterals by blood stasis are the top three syndromes.%目的 探讨血管性痴呆(vascular dementia,VD)的中医辨证分布规律,以指导临床辨证施治.方法 通过观察VD的中医辨证量表(SDSVD),对60例VD患者进行中医辨证分型.结果 VD患者的辨证分型为肾精亏虚型为28.3%、痰浊阻窍型为23.3%、瘀血阻络型为21.7%、肝阳上亢型为10.0%、火热内盛型为8.3%、腑滞浊留型为5.0%、气血亏虚型为3.3%.结论 VD有明显的中医辨证规律,前三位依次为肾精亏虚型、痰浊阻窍型、瘀血阻络型.

  14. Case report: Antenatal MRI diagnosis of esophageal duplication cyst.

    Science.gov (United States)

    Rangasami, Rajeswaran; Chandrasekharan, Anupama; Archana, Lal; Santhosh, Joseph

    2009-02-01

    Esophageal duplication cysts are classified as a subgroup of foregut duplication cysts. They are very rare and are predominantly detected in children. Antenatal detection is very rare. We report a case of an esophageal duplication cyst that was accurately identified antenatally by USG and MRI.

  15. Unilateral Pulmonary Agenesis and Gastric Duplication Cyst: A Rare Association

    OpenAIRE

    Amir Halilbasic; Fahrija Skokic; Nesad Hotic; Edin Husaric; Gordana Radoja; Selma Muratovic; Nermina Dedic; Meliha Halilbasic

    2013-01-01

    Lung agenesis and gastric duplication cysts are both rare congenital anomalies. Gastric duplication cysts can present with nausea, vomiting, hematemesis, or vague abdominal pain. Unilateral pulmonary agenesis can present with respiratory distress which usually occurs due to retention of bronchial secretions and inflammations. We report the unique case of right pulmonary agenesis associated with gastric duplication cyst.

  16. Unilateral Pulmonary Agenesis and Gastric Duplication Cyst: A Rare Association

    Directory of Open Access Journals (Sweden)

    Amir Halilbasic

    2013-01-01

    Full Text Available Lung agenesis and gastric duplication cysts are both rare congenital anomalies. Gastric duplication cysts can present with nausea, vomiting, hematemesis, or vague abdominal pain. Unilateral pulmonary agenesis can present with respiratory distress which usually occurs due to retention of bronchial secretions and inflammations. We report the unique case of right pulmonary agenesis associated with gastric duplication cyst.

  17. Effect of Duplicate Genes on Mouse Genetic Robustness: An Update

    Directory of Open Access Journals (Sweden)

    Zhixi Su

    2014-01-01

    Full Text Available In contrast to S. cerevisiae and C. elegans, analyses based on the current knockout (KO mouse phenotypes led to the conclusion that duplicate genes had almost no role in mouse genetic robustness. It has been suggested that the bias of mouse KO database toward ancient duplicates may possibly cause this knockout duplicate puzzle, that is, a very similar proportion of essential genes (PE between duplicate genes and singletons. In this paper, we conducted an extensive and careful analysis for the mouse KO phenotype data and corroborated a strong effect of duplicate genes on mouse genetics robustness. Moreover, the effect of duplicate genes on mouse genetic robustness is duplication-age dependent, which holds after ruling out the potential confounding effect from coding-sequence conservation, protein-protein connectivity, functional bias, or the bias of duplicates generated by whole genome duplication (WGD. Our findings suggest that two factors, the sampling bias toward ancient duplicates and very ancient duplicates with a proportion of essential genes higher than that of singletons, have caused the mouse knockout duplicate puzzle; meanwhile, the effect of genetic buffering may be correlated with sequence conservation as well as protein-protein interactivity.

  18. 48 CFR 1352.231-71 - Duplication of effort.

    Science.gov (United States)

    2010-10-01

    ... 48 Federal Acquisition Regulations System 5 2010-10-01 2010-10-01 false Duplication of effort. 1352.231-71 Section 1352.231-71 Federal Acquisition Regulations System DEPARTMENT OF COMMERCE CLAUSES... Duplication of effort. As prescribed in 48 CFR 1331.205-70, insert the following clause: Duplication of...

  19. Rationality of Cross-System Data Duplication: A Case Study

    NARCIS (Netherlands)

    Hordijk, Wiebe; Wieringa, Roel; Pernici, Barbara

    2010-01-01

    Duplication of data across systems in an organization is a problem because it wastes effort and leads to inconsistencies. Researchers have proposed several technical solutions but duplication still occurs in practice. In this paper we report on a case study of how and why duplication occurs in a lar

  20. 38 CFR 10.52 - Duplication of payments prohibited.

    Science.gov (United States)

    2010-07-01

    ... 38 Pensions, Bonuses, and Veterans' Relief 1 2010-07-01 2010-07-01 false Duplication of payments prohibited. 10.52 Section 10.52 Pensions, Bonuses, and Veterans' Relief DEPARTMENT OF VETERANS AFFAIRS ADJUSTED COMPENSATION Payments § 10.52 Duplication of payments prohibited. Duplication of payments...

  1. 47 CFR 80.467 - Duplication of VHF service.

    Science.gov (United States)

    2010-10-01

    ... 47 Telecommunication 5 2010-10-01 2010-10-01 false Duplication of VHF service. 80.467 Section 80... STATIONS IN THE MARITIME SERVICES Public Coast Stations Use of Telephony § 80.467 Duplication of VHF service. No duplication of service areas as determined by subpart P of this part will be permitted...

  2. Genetics Home Reference: 22q11.2 duplication

    Science.gov (United States)

    ... Home Health Conditions 22q11.2 duplication 22q11.2 duplication Enable Javascript to view the expand/collapse boxes. ... PDF Open All Close All Description 22q11.2 duplication is a condition caused by an extra copy ...

  3. 47 CFR 76.1508 - Network non-duplication.

    Science.gov (United States)

    2010-10-01

    ... 47 Telecommunication 4 2010-10-01 2010-10-01 false Network non-duplication. 76.1508 Section 76... MULTICHANNEL VIDEO AND CABLE TELEVISION SERVICE Open Video Systems § 76.1508 Network non-duplication. (a... regarding the exercise of network non-duplication rights immediately available to all appropriate...

  4. 47 CFR 76.122 - Satellite network non-duplication.

    Science.gov (United States)

    2010-10-01

    ... 47 Telecommunication 4 2010-10-01 2010-10-01 false Satellite network non-duplication. 76.122... MULTICHANNEL VIDEO AND CABLE TELEVISION SERVICE Network Non-duplication Protection, Syndicated Exclusivity and Sports Blackout § 76.122 Satellite network non-duplication. (a) Upon receiving notification pursuant...

  5. Duplication Cyst of the Sigmoid Colon

    Directory of Open Access Journals (Sweden)

    Bastian Domajnko

    2009-01-01

    Full Text Available A 21-year-old male with developmental delay presented with abdominal pain of two days' duration. He was afebrile and his abdomen was soft with mild diffuse tenderness. There were no peritoneal signs. Plain x-ray demonstrated a large air-filled structure in the right upper quadrant. Computed tomography of the abdomen revealed a 9×8 cm structure adjacent to the hepatic flexure containing an air-fluid level. It did not contain oral contrast and had no apparent communication with the colon. At operation, the cystic lesion was identified as a duplication cyst of the sigmoid colon that was adherent to the right upper quadrant. The cyst was excised with a segment of the sigmoid colon and a stapled colo-colostomy was performed. Recovery was uneventful. Final pathology was consistent with a duplication cyst of the sigmoid colon. The cyst was attached to the colon but did not communicate with the lumen.

  6. Genome-wide analysis of homeobox gene family in legumes: identification, gene duplication and expression profiling.

    Science.gov (United States)

    Bhattacharjee, Annapurna; Ghangal, Rajesh; Garg, Rohini; Jain, Mukesh

    2015-01-01

    Homeobox genes encode transcription factors that are known to play a major role in different aspects of plant growth and development. In the present study, we identified homeobox genes belonging to 14 different classes in five legume species, including chickpea, soybean, Medicago, Lotus and pigeonpea. The characteristic differences within homeodomain sequences among various classes of homeobox gene family were quite evident. Genome-wide expression analysis using publicly available datasets (RNA-seq and microarray) indicated that homeobox genes are differentially expressed in various tissues/developmental stages and under stress conditions in different legumes. We validated the differential expression of selected chickpea homeobox genes via quantitative reverse transcription polymerase chain reaction. Genome duplication analysis in soybean indicated that segmental duplication has significantly contributed in the expansion of homeobox gene family. The Ka/Ks ratio of duplicated homeobox genes in soybean showed that several members of this family have undergone purifying selection. Moreover, expression profiling indicated that duplicated genes might have been retained due to sub-functionalization. The genome-wide identification and comprehensive gene expression profiling of homeobox gene family members in legumes will provide opportunities for functional analysis to unravel their exact role in plant growth and development.

  7. Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males.

    Science.gov (United States)

    Van Esch, Hilde; Bauters, Marijke; Ignatius, Jaakko; Jansen, Mieke; Raynaud, Martine; Hollanders, Karen; Lugtenberg, Dorien; Bienvenu, Thierry; Jensen, Lars Riff; Gecz, Jozef; Moraine, Claude; Marynen, Peter; Fryns, Jean-Pierre; Froyen, Guy

    2005-09-01

    Loss-of-function mutations of the MECP2 gene at Xq28 are associated with Rett syndrome in females and with syndromic and nonsyndromic forms of mental retardation (MR) in males. By array comparative genomic hybridization (array-CGH), we identified a small duplication at Xq28 in a large family with a severe form of MR associated with progressive spasticity. Screening by real-time quantitation of 17 additional patients with MR who have similar phenotypes revealed three more duplications. The duplications in the four patients vary in size from 0.4 to 0.8 Mb and harbor several genes, which, for each duplication, include the MR-related L1CAM and MECP2 genes. The proximal breakpoints are located within a 250-kb region centromeric of L1CAM, whereas the distal breakpoints are located in a 300-kb interval telomeric of MECP2. The precise size and location of each duplication is different in the four patients. The duplications segregate with the disease in the families, and asymptomatic carrier females show complete skewing of X inactivation. Comparison of the clinical features in these patients and in a previously reported patient enables refinement of the genotype-phenotype correlation and strongly suggests that increased dosage of MECP2 results in the MR phenotype. Our findings demonstrate that, in humans, not only impaired or abolished gene function but also increased MeCP2 dosage causes a distinct phenotype. Moreover, duplication of the MECP2 region occurs frequently in male patients with a severe form of MR, which justifies quantitative screening of MECP2 in this group of patients.

  8. Celastrol inhibits lung infiltration in differential syndrome animal models by reducing TNF-α and ICAM-1 levels while preserving differentiation in ATRA-induced acute promyelocytic leukemia cells.

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    Li-min Xu

    Full Text Available All-trans retinoic acid (ATRA is a revolutionary agent for acute promyelocytic leukemia (APL treatment via differentiation induction. However, ATRA treatment also increases cytokine, chemokine, and adhesive molecule (mainly ICAM-1 expression, which can cause clinical complications, including a severe situation known as differentiation syndrome (DS which can cause death. Therefore, it is of clinical significance to find a strategy to specifically blunt inflammatory effects while preserving differentiation. Here we report that the natural compound, celastrol, could effectively block lung infiltrations in DS animal models created by loading ATRA-induced APL cell line NB4. In ATRA-treated NB4 cells, celastrol could potently inhibit ICAM-1 elevation and partially reduce TNF-α and IL-1β secretion, though treatment showed no effects on IL-8 and MCP-1 levels. Celastrol's effect on ICAM-1 in ATRA-treated NB4 was related to reducing MEK1/ERK1 activation. Strikingly and encouragingly, celastrol showed no obvious effects on ATRA-induced NB4 differentiation, as determined by morphology, enzymes, and surface markers. Our results show that celastrol is a promising and unique agent for managing the side effects of ATRA application on APL, and suggest that hyper-inflammatory ability is accompanied by, but not necessary for, APL differentiation. Thus we offered an encouraging novel strategy to further improve differentiation therapy.

  9. Identifying Tracks Duplicates via Neural Network

    CERN Document Server

    Sunjerga, Antonio; CERN. Geneva. EP Department

    2017-01-01

    The goal of the project is to study feasibility of state of the art machine learning techniques in track reconstruction. Machine learning techniques provide promising ways to speed up the pattern recognition of tracks by adding more intelligence in the algorithms. Implementation of neural network to process of track duplicates identifying will be discussed. Different approaches are shown and results are compared to method that is currently in use.

  10. Human 45,X Fibroblast Transcriptome Reveals Distinct Differentially Expressed Genes Including Long Noncoding RNAs Potentially Associated with the Pathophysiology of Turner Syndrome

    Science.gov (United States)

    Patowary, Ashok; Scaria, Vinod; Sivasubbu, Sridhar; Deobagkar, Deepti D.

    2014-01-01

    Turner syndrome is a chromosomal abnormality characterized by the absence of whole or part of the X chromosome in females. This X aneuploidy condition is associated with a diverse set of clinical phenotypes such as gonadal dysfunction, short stature, osteoporosis and Type II diabetes mellitus, among others. These phenotypes differ in their severity and penetrance among the affected individuals. Haploinsufficiency for a few X linked genes has been associated with some of these disease phenotypes. RNA sequencing can provide valuable insights to understand molecular mechanism of disease process. In the current study, we have analysed the transcriptome profiles of human untransformed 45,X and 46,XX fibroblast cells and identified differential expression of genes in these two karyotypes. Functional analysis revealed that these differentially expressing genes are associated with bone differentiation, glucose metabolism and gonadal development pathways. We also report differential expression of lincRNAs in X monosomic cells. Our observations provide a basis for evaluation of cellular and molecular mechanism(s) in the establishment of Turner syndrome phenotypes. PMID:24932682

  11. Human 45,X fibroblast transcriptome reveals distinct differentially expressed genes including long noncoding RNAs potentially associated with the pathophysiology of Turner syndrome.

    Directory of Open Access Journals (Sweden)

    Shriram N Rajpathak

    Full Text Available Turner syndrome is a chromosomal abnormality characterized by the absence of whole or part of the X chromosome in females. This X aneuploidy condition is associated with a diverse set of clinical phenotypes such as gonadal dysfunction, short stature, osteoporosis and Type II diabetes mellitus, among others. These phenotypes differ in their severity and penetrance among the affected individuals. Haploinsufficiency for a few X linked genes has been associated with some of these disease phenotypes. RNA sequencing can provide valuable insights to understand molecular mechanism of disease process. In the current study, we have analysed the transcriptome profiles of human untransformed 45,X and 46,XX fibroblast cells and identified differential expression of genes in these two karyotypes. Functional analysis revealed that these differentially expressing genes are associated with bone differentiation, glucose metabolism and gonadal development pathways. We also report differential expression of lincRNAs in X monosomic cells. Our observations provide a basis for evaluation of cellular and molecular mechanism(s in the establishment of Turner syndrome phenotypes.

  12. Human 45,X fibroblast transcriptome reveals distinct differentially expressed genes including long noncoding RNAs potentially associated with the pathophysiology of Turner syndrome.

    Science.gov (United States)

    Rajpathak, Shriram N; Vellarikkal, Shamsudheen Karuthedath; Patowary, Ashok; Scaria, Vinod; Sivasubbu, Sridhar; Deobagkar, Deepti D

    2014-01-01

    Turner syndrome is a chromosomal abnormality characterized by the absence of whole or part of the X chromosome in females. This X aneuploidy condition is associated with a diverse set of clinical phenotypes such as gonadal dysfunction, short stature, osteoporosis and Type II diabetes mellitus, among others. These phenotypes differ in their severity and penetrance among the affected individuals. Haploinsufficiency for a few X linked genes has been associated with some of these disease phenotypes. RNA sequencing can provide valuable insights to understand molecular mechanism of disease process. In the current study, we have analysed the transcriptome profiles of human untransformed 45,X and 46,XX fibroblast cells and identified differential expression of genes in these two karyotypes. Functional analysis revealed that these differentially expressing genes are associated with bone differentiation, glucose metabolism and gonadal development pathways. We also report differential expression of lincRNAs in X monosomic cells. Our observations provide a basis for evaluation of cellular and molecular mechanism(s) in the establishment of Turner syndrome phenotypes.

  13. Pseudomyxoma Peritonei Originating from an Intestinal Duplication

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    Julie Lemahieu

    2013-01-01

    Full Text Available Alimentary tract duplications are rare congenital anomalies. They most often become symptomatic in childhood and rarely undergo malignant transformation. Pseudomyxoma peritonei (PMP is an equally uncommon condition, most frequently originating from a primary appendiceal mucinous neoplasm. We report an extremely unusual case of PMP arising from an intestinal duplication. A 67-year-old woman presented with vague upper abdominal pain, and, unexpectedly, explorative laparoscopy revealed diffuse jelly-like peritoneal implants. The histopathological diagnosis of a low-grade PMP or “disseminated peritoneal adenomucinosis” was made. At that moment, no primary tumor was found. During later surgery, a cystic lesion located in the mesentery of the small bowel could be resected. Histologically, the cyst wall clearly showed the concentric layering of a normal bowel wall. The mucosa, however, displayed a diffuse low-grade villous adenoma. We concluded that this histological picture was most consistent with a small intestinal duplication, containing a low-grade villous adenoma. The adenoma caused a mucocele, which subsequently leaked or ruptured, giving rise to noninvasive mucinous peritoneal implants or low-grade PMP, also known as “disseminated peritoneal adenomucinosis” (DPAM.

  14. Pseudomyxoma peritonei originating from an intestinal duplication.

    Science.gov (United States)

    Lemahieu, Julie; D'Hoore, André; Deloose, Stijn; Sciot, Raf; Moerman, Philippe

    2013-01-01

    Alimentary tract duplications are rare congenital anomalies. They most often become symptomatic in childhood and rarely undergo malignant transformation. Pseudomyxoma peritonei (PMP) is an equally uncommon condition, most frequently originating from a primary appendiceal mucinous neoplasm. We report an extremely unusual case of PMP arising from an intestinal duplication. A 67-year-old woman presented with vague upper abdominal pain, and, unexpectedly, explorative laparoscopy revealed diffuse jelly-like peritoneal implants. The histopathological diagnosis of a low-grade PMP or "disseminated peritoneal adenomucinosis" was made. At that moment, no primary tumor was found. During later surgery, a cystic lesion located in the mesentery of the small bowel could be resected. Histologically, the cyst wall clearly showed the concentric layering of a normal bowel wall. The mucosa, however, displayed a diffuse low-grade villous adenoma. We concluded that this histological picture was most consistent with a small intestinal duplication, containing a low-grade villous adenoma. The adenoma caused a mucocele, which subsequently leaked or ruptured, giving rise to noninvasive mucinous peritoneal implants or low-grade PMP, also known as "disseminated peritoneal adenomucinosis" (DPAM).

  15. Antiphospholipid antibodies detected by line immunoassay differentiate among patients with antiphospholipid syndrome, with infections and asymptomatic carriers.

    Science.gov (United States)

    Roggenbuck, Dirk; Borghi, Maria Orietta; Somma, Valentina; Büttner, Thomas; Schierack, Peter; Hanack, Katja; Grossi, Claudia; Bodio, Caterina; Macor, Paolo; von Landenberg, Philipp; Boccellato, Francesco; Mahler, Michael; Meroni, Pier Luigi

    2016-05-21

    Antiphospholipid antibodies (aPL) can be detected in asymptomatic carriers and infectious patients. The aim was to investigate whether a novel line immunoassay (LIA) differentiates between antiphospholipid syndrome (APS) and asymptomatic aPL+ carriers or patients with infectious diseases (infectious diseases controls (IDC)). Sixty-one patients with APS (56 primary, 22/56 with obstetric events only, and 5 secondary), 146 controls including 24 aPL+ asymptomatic carriers and 73 IDC were tested on a novel hydrophobic solid phase coated with cardiolipin (CL), phosphatic acid, phosphatidylcholine, phosphatidylethanolamine, phosphatidylglycerol, phosphatidylinositol, phosphatidylserine, beta2-glycoprotein I (β2GPI), prothrombin, and annexin V. Samples were also tested by anti-CL and anti-β2GPI ELISAs and for lupus anticoagulant activity. Human monoclonal antibodies (humoAbs) against human β2GPI or PL alone were tested on the same LIA substrates in the absence or presence of human serum, purified human β2GPI or after CL-micelle absorption. Comparison of LIA with the aPL-classification assays revealed good agreement for IgG/IgM aß2GPI and aCL. Anti-CL and anti-ß2GPI IgG/IgM reactivity assessed by LIA was significantly higher in patients with APS versus healthy controls and IDCs, as detected by ELISA. IgG binding to CL and ß2GPI in the LIA was significantly lower in aPL+ carriers and Venereal Disease Research Laboratory test (VDRL) + samples than in patients with APS. HumoAb against domain 1 recognized β2GPI bound to the LIA-matrix and in anionic phospholipid (PL) complexes. Absorption with CL micelles abolished the reactivity of a PL-specific humoAb but did not affect the binding of anti-β2GPI humoAbs. The LIA and ELISA have good agreement in detecting aPL in APS, but the LIA differentiates patients with APS from infectious patients and asymptomatic carriers, likely through the exposure of domain 1.

  16. Integrated differential transcriptome maps of Acute Megakaryoblastic Leukemia (AMKL) in children with or without Down Syndrome (DS).

    Science.gov (United States)

    Pelleri, Maria Chiara; Piovesan, Allison; Caracausi, Maria; Berardi, Anna Concetta; Vitale, Lorenza; Strippoli, Pierluigi

    2014-12-05

    The incidence of Acute Megakaryoblastic Leukemia (AMKL) is 500-fold higher in children with Down Syndrome (DS) compared with non-DS children, but the relevance of trisomy 21 as a specific background of AMKL in DS is still an open issue. Several Authors have determined gene expression profiles by microarray analysis in DS and/or non-DS AMKL. Due to the rarity of AMKL, these studies were typically limited to a small group of samples. We generated integrated quantitative transcriptome maps by systematic meta-analysis from any available gene expression profile dataset related to AMKL in pediatric age. This task has been accomplished using a tool recently described by us for the generation and the analysis of quantitative transcriptome maps, TRAM (Transcriptome Mapper), which allows effective integration of data obtained from different experimenters, experimental platforms and data sources. This allowed us to explore gene expression changes involved in transition from normal megakaryocytes (MK, n=19) to DS (n=43) or non-DS (n=45) AMKL blasts, including the analysis of Transient Myeloproliferative Disorder (TMD, n=20), a pre-leukemia condition. We propose a biological model of the transcriptome depicting progressive changes from MK to TMD and then to DS AMKL. The data indicate the repression of genes involved in MK differentiation, in particular the cluster on chromosome 4 including PF4 (platelet factor 4) and PPBP (pro-platelet basic protein); the gene for the mitogen-activated protein kinase MAP3K10 and the thrombopoietin receptor gene MPL. Moreover, comparing both DS and non-DS AMKL with MK, we identified three potential clinical markers of progression to AMKL: TMEM241 (transmembrane protein 241) was the most over-expressed single gene, while APOC2 (apolipoprotein C-II) and ZNF587B (zinc finger protein 587B) appear to be the most discriminant markers of progression, specifically to DS AMKL. Finally, the chromosome 21 (chr21) genes resulted to be the most over

  17. Two-Dimensional Differential Gel Electrophoresis to Identify Protein Biomarkers in Amniotic Fluid of Edwards Syndrome (Trisomy 18 Pregnancies.

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    Te-Yao Hsu

    Full Text Available Edwards syndrome (ES is a severe chromosomal abnormality with a prevalence of about 0.8 in 10,000 infants born alive. The aims of this study were to identify candidate proteins associated with ES pregnancies from amniotic fluid supernatant (AFS using proteomics, and to explore the role of biological networks in the pathophysiology of ES.AFS from six second trimester pregnancies with ES fetuses and six normal cases were included in this study. Fluorescence-based two-dimensional difference gel electrophoresis (2D-DIGE and matrix-assisted laser desorption/ionization time-of-flight mass spectrometry (MALDI-TOF/MS were used for comparative proteomic analysis. The identified proteins were further validated by Western blotting and the role of biological networks was analyzed.Twelve protein spots were differentially expressed by more than 1.5-fold in the AFS of the ES pregnancies. MALDI-TOF/MS identified one up-regulated protein: apolipoprotein A1 (ApoA1, and four under-regulated proteins: vitamin D binding protein (VDBP, alpha-1-antitrypsin (A1AT, insulin-like growth factor-binding protein 1 (IGFBP-1, and transthyretin (TTR. Western blot and densitometric analysis of ApoA1, A1AT, IGFBP-1, and TTR confirmed the alteration of these proteins in the amniotic fluid samples. Biological network analysis revealed that the proteins of the ES AFS were involved mainly in lipid and hormone metabolism, immune response, and cardiovascular disease.These five proteins may be involved in the pathogenesis of ES. Further studies are needed to explore.

  18. Performance of the 4-mg intravenous dexamethasone suppression test in differentiating Cushing disease from pseudo-Cushing syndrome.

    Science.gov (United States)

    Nouvel, Migueline; Rabilloud, Muriel; Raverot, Véronique; Subtil, Fabien; Vouillarmet, Julien; Thivolet, Charles; Jouanneau, Emmanuel; Borson-Chazot, Françoise; Pugeat, Michel; Raverot, Gérald

    2016-02-01

    Discriminating Cushing disease (CD) from pseudo-Cushing syndrome (PCS) is a challenging task that may be overcome with the 4-mg intravenous (IV) dexamethasone suppression test (DST). Assess the performance of the 4-mg IV DST in the differential diagnosis between CD and PCS in well-characterized patients. Retrospective comparative study of subjects seen in a tertiary care unit (November 2008 to July 2011). Thirty-six patients with PCS and 32 patients with CD underwent 4-mg IV dexamethasone infusions from 11 am to 3 pm. Areas Under ROC Curves (AUCs) were estimated and compared for ACTH and cortisol measured at 4 pm the same day (day 1) and 8 am the next day (day 2). The ROC curve of the marker with the highest AUC was used to determine the threshold with the highest specificity for 100% sensitivity. The AUC of ACTH at 8 am on day 2 was estimated at 98.4% (95% CI: [92.1-100]), which is significantly greater than that of ACTH at 4 pm on day 1 (P=0.04) and that of cortisol at 8 am on day 2 (P=0.05). For ACTH at 8 am on day 2, the threshold with the highest specificity for 100% sensitivity was estimated at 14.8 ng/L. At this threshold, the sensitivity was estimated at 100% [89-100] and the specificity at 83.3% [67-94]. The 4-mg IV DST is an easy and accurate tool in distinguishing CD from PCS. It deserves thus a better place in establishing the diagnosis of CD. Copyright © 2015 Elsevier Masson SAS. All rights reserved.

  19. Exploring syndrome differentiation using non-negative matrix factorization and cluster analysis in patients with atopic dermatitis.

    Science.gov (United States)

    Yun, Younghee; Jung, Wonmo; Kim, Hyunho; Jang, Bo-Hyoung; Kim, Min-Hee; Noh, Jiseong; Ko, Seong-Gyu; Choi, Inhwa

    2017-08-01

    Syndrome differentiation (SD) results in a diagnostic conclusion based on a cluster of concurrent symptoms and signs, including pulse form and tongue color. In Korea, there is a strong interest in the standardization of Traditional Medicine (TM). In order to standardize TM treatment, standardization of SD should be given priority. The aim of this study was to explore the SD, or symptom clusters, of patients with atopic dermatitis (AD) using non-negative factorization methods and k-means clustering analysis. We screened 80 patients and enrolled 73 eligible patients. One TM dermatologist evaluated the symptoms/signs using an existing clinical dataset from patients with AD. This dataset was designed to collect 15 dermatologic and 18 systemic symptoms/signs associated with AD. Non-negative matrix factorization was used to decompose the original data into a matrix with three features and a weight matrix. The point of intersection of the three coordinates from each patient was placed in three-dimensional space. With five clusters, the silhouette score reached 0.484, and this was the best silhouette score obtained from two to nine clusters. Patients were clustered according to the varying severity of concurrent symptoms/signs. Through the distribution of the null hypothesis generated by 10,000 permutation tests, we found significant cluster-specific symptoms/signs from the confidence intervals in the upper and lower 2.5% of the distribution. Patients in each cluster showed differences in symptoms/signs and severity. In a clinical situation, SD and treatment are based on the practitioners' observations and clinical experience. SD, identified through informatics, can contribute to development of standardized, objective, and consistent SD for each disease. Copyright © 2017. Published by Elsevier Ltd.

  20. Role of toll like receptors in irritable bowel syndrome: differential mucosal immune activation according to the disease subtype.

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    Liliana Belmonte

    Full Text Available BACKGROUND: The irritable bowel syndrome (IBS is a functional gastrointestinal disorder whose pathogenesis is not completely understood. Its high prevalence and the considerable effects on quality of life make IBS a disease with high social cost. Recent studies suggest that low grade mucosal immune activation, increased intestinal permeability and the altered host-microbiota interactions that modulate innate immune response, contribute to the pathophysiology of IBS. However, the understanding of the precise molecular pathophysiology remains largely unknown. METHODOLOGY AND FINDINGS: In this study our objective was to evaluate the TLR expression as a key player in the innate immune response, in the colonic mucosa of IBS patients classified into the three main subtypes (with constipation, with diarrhea or mixed. TLR2 and TLR4 mRNA expression was assessed by real time RT-PCR while TLRs protein expression in intestinal epithelial cells was specifically assessed by flow cytometry and immunofluorescence. Mucosal inflammatory cytokine production was investigated by the multiplex technology. Here we report that the IBS-Mixed subgroup displayed a significant up-regulation of TLR2 and TLR4 in the colonic mucosa. Furthermore, these expressions were localized in the epithelial cells, opening new perspectives for a potential role of epithelial cells in host-immune interactions in IBS. In addition, the increased TLR expression in IBS-M patients elicited intracellular signaling pathways resulting in increased expression of the mucosal proinflammatory cytokines IL-8 and IL1β. CONCLUSIONS: Our results provide the first evidence of differential expression of TLR in IBS patients according to the disease subtype. These results offer further support that microflora plays a central role in the complex pathophysiology of IBS providing novel pharmacological targets for this chronic gastrointestinal disorder according to bowel habits.

  1. Syndrome Differentiation Nursing on Vertigo of Liver-fire Flaring-up Syndrome for 56 Cases%56例肝火上炎型眩晕的辨证施护

    Institute of Scientific and Technical Information of China (English)

    刘颖; 钱艳; 王冰

    2016-01-01

    目的:探讨肝火上炎型眩晕患者的辨证施护效果。方法通过对56例肝火上炎型眩晕患者以平肝潜阳、清火熄风、滋养肝肾为辨证施护原则,进行环境、生活、饮食、情志护理以及针灸、耳穴压豆、拔罐、足浴、药枕等中医特色护理,观察护理效果。结果显效30例,有效20例,无效6例。结论中医辨证施护对肝火上炎型眩晕临床护理效果肯定。%Objective To explore the effect of syndrome differentiation nursing on vertigo of liver-fire flaring-up syndrome .Method 56 cases of patients with vertigo of liver-fire flaring-up syndrome was treated according to principle of repressing hyperactive liver yang , clearing fire and extinguishing wind , nourishing liver and kidney , combined with some specific traditional Chinese medicine nursing methods , like life nursing , diet nursing , emotional nursing , acupuncture , auricular points plaster therapy , cupping , foot-bathing pediluvium and Chinese herbs pillow.Result 30 cases showed marked improvement , 20 cases were effective, 6 cases were invalid.Conclusion TCM syndrome differentiation nursing on vertigo of liver-fire flaring-up syndrome has definite effect .

  2. Discussion of Syndrome Differentiation of TCM from Perspective of Cognitive Psychology%从认知心理学角度探析中医辨证过程

    Institute of Scientific and Technical Information of China (English)

    谢菁; 朴恩希; 贾春华

    2011-01-01

    从认知心理学信息加工论的角度对中医辨证的认知理论基础、认知模式以及影响中医辨证过程的心理因素进行了初步探讨.中医辨证过程实际上是医生有意识地运用中医药理论知识和临床经验,对患者所表现的症状信息进行一系列连续加工的认知心理过程.问题解决理论和模式识别原型理论的相关观点对认识、理解中医辨证的思维过程和认知模式有一定的启示作用.医生作为辨证的主体,其专业的中医药理论结构、独特的临床经验、灵感与顿悟思维、性格特征以及情绪、动机等心理因素对中医辨证过程有着十分重要的影响,客观上反映了中医辨证过程存在着主体差异性、模式多样性、灵活性的认知特点.%This article discussed the cognitive theory, cognitive model and psychological influenced factors in syndrome differentiation of traditional Chinese medicine (TCM) from the perspective of Cognitive Information Processing. Syndrome differentiation is a series continuous cognitive processing of the doctor consciously uses Chinese theoretical knowledge and clinical experience when faced with patients' symptoms. Problem Solving Theory and Prototype Theory of Pattern Recognition in Cognitive Psychology have inspiration to understand the essence of syndrome differentiation. As subject of syndrome differentiation, doctors' professional theoretical structure, unique clinical experience, inspiration and insight thinking, character and emotion, motivation and other psychological factors have very important influence on differentiation processing. It objectively reflects that the differentiation processing has cognitive characteristics of individual differences, pattern diversity and flexibility.

  3. The use of angiogenic and antiangiogenic factors in the differential diagnosis of pre-eclampsia, antiphospholipid syndrome nephropathy and lupus nephritis.

    Science.gov (United States)

    de Jesus, G R; de Jesus, N R; Levy, R A; Klumb, E M

    2014-10-01

    Pre-eclampsia (PE) is a major cause of maternal mortality and morbidity, perinatal deaths, preterm birth and intrauterine growth restriction. Differential diagnosis with antiphospholipid syndrome (APS) nephropathy and systemic lupus erythematosus (SLE) nephritis during pregnancy is difficult, if not sometimes impossible, as all three diseases may present hypertension and proteinuria. Improvement in diagnosis of PE has also offered new paths for differential diagnosis with other conditions and the analysis of angiogenic (vascular endothelial growth factor, placental growth factor) and antiangiogenic factors (serum soluble fms-like tyrosine kinase 1, soluble endoglin) is promising for differentiation between PE, APS nephropathy and SLE nephritis. This article reviews published studies about those factors in non-pregnant and pregnant patients with APS and SLE, comparing with patterns described in PE.

  4. Perforated ileal duplication cyst with haemorrhagic pseudocyst formation

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    Hwang, Im Kyung; Kim, Bong Soo; Kim, Heung Chul; Lee, In Sun; Hwang, Woo Chul [Department of Radiology, College of Medicine, Hallym University (Korea); Namkung, Sook [Department of Radiology, College of Medicine, Hallym University (Korea); Department of Radiology, Chuncheon Sacred Heart Hospital, 153 Kyo-dong, Chuncheon, Kangwon-do, 200-704 (Korea)

    2003-07-01

    Duplication cysts of the gastrointestinal tract are rare congenital abnormalities. Ectopic gastric mucosa, which can be found in duplications, may cause peptic ulceration, gastrointestinal bleeding or perforation. We report a 1-year-old boy with a perforated ileal duplication cyst with haemorrhagic pseudocyst formation caused by peptic ulceration of the duplication cyst. It presented a snowman-like appearance consisting of a small, thick-walled, true enteric cyst and a large, thin-walled haemorrhagic pseudocyst on US and CT. It is an unusual manifestation of a duplication cyst, which has not been reported in the English language literature. (orig.)

  5. Molecular trajectories leading to the alternative fates of duplicate genes.

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    Michael Marotta

    Full Text Available Gene duplication generates extra gene copies in which mutations can accumulate without risking the function of pre-existing genes. Such mutations modify duplicates and contribute to evolutionary novelties. However, the vast majority of duplicates appear to be short-lived and experience duplicate silencing within a few million years. Little is known about the molecular mechanisms leading to these alternative fates. Here we delineate differing molecular trajectories of a relatively recent duplication event between humans and chimpanzees by investigating molecular properties of a single duplicate: DNA sequences, gene expression and promoter activities. The inverted duplication of the Glutathione S-transferase Theta 2 (GSTT2 gene had occurred at least 7 million years ago in the common ancestor of African great apes and is preserved in chimpanzees (Pan troglodytes, whereas a deletion polymorphism is prevalent in humans. The alternative fates are associated with expression divergence between these species, and reduced expression in humans is regulated by silencing mutations that have been propagated between duplicates by gene conversion. In contrast, selective constraint preserved duplicate divergence in chimpanzees. The difference in evolutionary processes left a unique DNA footprint in which dying duplicates are significantly more similar to each other (99.4% than preserved ones. Such molecular trajectories could provide insights for the mechanisms underlying duplicate life and death in extant genomes.

  6. An 8.9 Mb 19p13 duplication associated with precocious puberty and a sporadic 3.9 Mb 2q23.3q24.1 deletion containing NR4A2 in mentally retarded members of a family with an intrachromosomal 19p-into-19q between-arm insertion.

    Science.gov (United States)

    Lybaek, Helle; Ørstavik, Karen Helene; Prescott, Trine; Hovland, Randi; Breilid, Harald; Stansberg, Christine; Steen, Vidar Martin; Houge, Gunnar

    2009-07-01

    In a 2 and a half-year-old girl with onset of puberty before the age of 5 months, short stature, hand anomalies and severe mental retardation, an 8.9 Mb interstitial 19p13 duplication containing 215 predicted genes was detected. It was initially assumed that the duplication involved the kisspeptin receptor gene, GPR54, known to stimulate induction of puberty, but more refined duplication mapping excluded this possibility. In an attempt to further understand the genotype-phenotype correlation, global gene expression was measured in skin fibroblasts. The overall expression pattern was quite similar to controls, and only about 25% of the duplicated genes had an expression level that was increased by more than 1.3-fold, with no obvious changes that could explain the precocious puberty. The proband's mother carried a balanced between-arm insertion of the duplicated segment that resembled a pericentric inversion. The same insertion was found in several other family members, including one who had lost a daughter with severe mental retardation and menarche at the age of 10 years. Another close relative was severely mentally retarded, but neither dysmorphic nor microcephalic. His phenotype was initially ascribed to a presumed cryptic chromosome 19 imbalance caused by the 19p-into19q insertion, but subsequent array-CGH detected a 3.9-Mb deletion of 2q23.3q24.1. This novel microdeletion involves seven genes, of which FMNL2, a suggested regulator of Rho-GTPases, and NR4A2, an essential gene for differentiation of dopaminergic neurons, may be critical genes for the proposed 2q23q24 microdeletion syndrome.

  7. Intestinal Duplication Cyst Mimicking as Mesenteric Cyst with Asso- ciated Ileal Atresia Type III A

    Directory of Open Access Journals (Sweden)

    Surekha Arakeri

    2013-07-01

    Full Text Available Intestinal duplication cysts (IDC are uncom-mon congenital malformations that couldpresent diagnostic and therapeutic challenge.They may be often mistaken as mesentericcysts, omental cyst, cystic lymphangioma etc.However, IDC are differentiated from otherintra-abdominal cystic lesions by presence ofgastrointestinal mucosal lining and smoothmuscles in their wall. We report a case of IDCmimicking as mesenteric cyst associated withatresia of ileum in a neonate presented withacute surgical emergency.

  8. Asthma-COPD Overlap Syndrome (ACOS): Single disease entity or not? Could exhaled nitric oxide be a useful biomarker for the differentiation of ACOS, asthma and COPD?

    Science.gov (United States)

    Karampitsakos, Theodoros; Gourgoulianis, Konstantinos I

    2016-06-01

    Asthma and chronic obstructive pulmonary disease (COPD) represent two major public health problems. However, there is a significant proportion of patients with a mixed asthma-COPD phenotype. This condition is defined as asthma-COPD overlap syndrome (ACOS). Since there are no internationally accepted criteria for the diagnosis of that syndrome, its management remains difficult. Given the fact that patients with ACOS have an increased risk of exacerbation and hospitalization, there is a pressing need for a more targeted approach and better management. We propose that fractional exhaled nitric oxide (FeNO), a marker of eosinophilic inflammation, could help clinicians differentiate ACOS from asthma and COPD. We evaluate this hypothesis, using data derived from the existing literature. Copyright © 2016 Elsevier Ltd. All rights reserved.

  9. SANCTIONING DUPLICATION IN ADMINISTRATIVE AND PENAL AREAS

    Directory of Open Access Journals (Sweden)

    José Manuel Cabrera Delgado

    2014-12-01

    Full Text Available This article provides a first approach from the point of view of jurisprudence, to the recurring problem of concurrency sanctions in cases where further intervention of the courts has become necessary for administrative action. In this regard, the main judgments of both the Constitutional Court and the Supreme Court is, that have shaped the decisions that must be applied from the administrative level, in particular by educational inspectors, when it is foreseeable that it can produce a duplication of disciplinary procedures in the two areas, penal and administrative.

  10. Differentiation of Hereditary Spastic Paraparesis From Primary Lateral Sclerosis in Sporadic Adult-Onset Upper Motor Neuron Syndromes

    NARCIS (Netherlands)

    Brugman, Frans; Veldink, Jan H.; Franssen, Hessel; de Visser, Marianne; de Jong, J. M. B. Vianney; Faber, Carin G.; Kremer, Berry H. P.; Schelhaas, H. Jurgen; van Doorn, Pieter A.; Verschuuren, Jan J. G. M.; Bruyn, Richard P. M.; Kuks, Jan B. M.; Robberecht, Wim; Wokke, John H. J.; van den Berg, Leonard H.

    Objective: To study whether clinical characteristics can differentiate sporadic presentations of hereditary spastic paraparesis (HSP) from primary lateral sclerosis (PLS). Differentiation between these diseases is important for genetic counseling and prognostication. Design: Case series. Setting:

  11. Gene duplication as a major force in evolution

    Indian Academy of Sciences (India)

    Santoshkumar Magadum; Urbi Banerjee; Priyadharshini Murugan; Doddabhimappa Gangapur; Rajasekar Ravikesavan

    2013-04-01

    Gene duplication is an important mechanism for acquiring new genes and creating genetic novelty in organisms. Many new gene functions have evolved through gene duplication and it has contributed tremendously to the evolution of developmental programmes in various organisms. Gene duplication can result from unequal crossing over, retroposition or chromosomal (or genome) duplication. Understanding the mechanisms that generate duplicate gene copies and the subsequent dynamics among gene duplicates is vital because these investigations shed light on localized and genomewide aspects of evolutionary forces shaping intra-specific and inter-specific genome contents, evolutionary relationships, and interactions. Based on whole-genome analysis of Arabidopsis thaliana, there is compelling evidence that angiosperms underwent two whole-genome duplication events early during their evolutionary history. Recent studies have shown that these events were crucial for creation of many important developmental and regulatory genes found in extant angiosperm genomes. Recent studies also provide strong indications that even yeast (Saccharomyces cerevisiae), with its compact genome, is in fact an ancient tetraploid. Gene duplication can provide new genetic material for mutation, drift and selection to act upon, the result of which is specialized or new gene functions. Without gene duplication the plasticity of a genome or species in adapting to changing environments would be severely limited. Whether a duplicate is retained depends upon its function, its mode of duplication, (i.e. whether it was duplicated during a whole-genome duplication event), the species in which it occurs, and its expression rate. The exaptation of preexisting secondary functions is an important feature in gene evolution, just as it is in morphological evolution.

  12. Analysis of recent segmental duplications in the bovine genome

    Directory of Open Access Journals (Sweden)

    Li Congjun

    2009-12-01

    Full Text Available Abstract Background Duplicated sequences are an important source of gene innovation and structural variation within mammalian genomes. We performed the first systematic and genome-wide analysis of segmental duplications in the modern domesticated cattle (Bos taurus. Using two distinct computational analyses, we estimated that 3.1% (94.4 Mb of the bovine genome consists of recently duplicated sequences (≥ 1 kb in length, ≥ 90% sequence identity. Similar to other mammalian draft assemblies, almost half (47% of 94.4 Mb of these sequences have not been assigned to cattle chromosomes. Results In this study, we provide the first experimental validation large duplications and briefly compared their distribution on two independent bovine genome assemblies using fluorescent in situ hybridization (FISH. Our analyses suggest that the (75-90% of segmental duplications are organized into local tandem duplication clusters. Along with rodents and carnivores, these results now confidently establish tandem duplications as the most likely mammalian archetypical organization, in contrast to humans and great ape species which show a preponderance of interspersed duplications. A cross-species survey of duplicated genes and gene families indicated that duplication, positive selection and gene conversion have shaped primates, rodents, carnivores and ruminants to different degrees for their speciation and adaptation. We identified that bovine segmental duplications corresponding to genes are significantly enriched for specific biological functions such as immunity, digestion, lactation and reproduction. Conclusion Our results suggest that in most mammalian lineages segmental duplications are organized in a tandem configuration. Segmental duplications remain problematic for genome and assembly and we highlight genic regions that require higher quality sequence characterization. This study provides insights into mammalian genome evolution and generates a valuable

  13. Inversion duplication of the short arm of chromosome 8: Clinical data on seven patients and review of the literature

    Energy Technology Data Exchange (ETDEWEB)

    Die-Smulders, C.E.M. de; Engelen, J.J.M.; Schrander-Stumpel, C.T.R.M. [Univ. of Limburg, Maastricht (Netherlands)] [and others

    1995-11-20

    We report on clinical and cytogenetic data on 5 children and 2 adults with a de novo inverted duplication of the short arm of chromosome 8, and we give a review of 26 patients from the literature. The clinical picture in young children is characterized by minor facial anomalies, hypotonia, and severe developmental delay. In older patients the facial traits are less characteristic, spastic paraplegia develops, and severe orthopedic problems are frequent. Psychomotor retardation is always severe-to-profound. Duplication of 8p21-p22 results in a clinically recognizable multiple congenital anomalies/mental retardation (MCA/MR) syndrome. It is shown that in all patients examined, the duplication was accompanied by a deletion of the most terminal part of 8p. 16 refs., 4 figs., 2 tabs.

  14. Blepharophimosis and bilateral Duane syndrome associated with a FOXL2 mutation.

    Science.gov (United States)

    Vincent, A L; Watkins, W J; Sloan, B H; Shelling, A N

    2005-12-01

    This case describes the novel coexistence of sporadic blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) and bilateral type I Duane syndrome in a female infant, with a FOXL2 mutation. Mutational analysis of FOXL2 demonstrated a 30-nucleotide duplication (c.672(-)701dup30) within the polyalanine tract of FOXL2. The association of BPES and Duane syndrome represents a novel phenotype which may suggest a greater pleiotropic effect of FOXL2 in development. During the period of the 4-8th week of embryonic development, the cranial nerves, their nuclei and the corresponding innervation to the extraocular muscles develop, the extraocular muscles undergo development and differentiation. This coincides with the period of time that FOXL2 is expressed strongly in the developing eyelids and the surrounding tissues. Forkhead genes are transcription factors and likely to be involved in signal transduction pathways. This case expands the spectrum of FOXL2 mutations associated with BPES.

  15. A dense linkage map for Chinook salmon (Oncorhynchus tshawytscha) reveals variable chromosomal divergence after an ancestral whole genome duplication event.

    Science.gov (United States)

    Brieuc, Marine S O; Waters, Charles D; Seeb, James E; Naish, Kerry A

    2014-03-20

    Comparisons between the genomes of salmon species reveal that they underwent extensive chromosomal rearrangements following whole genome duplication that occurred in their lineage 58-63 million years ago. Extant salmonids are diploid, but occasional pairing between homeologous chromosomes exists in males. The consequences of re-diploidization can be characterized by mapping the position of duplicated loci in such species. Linkage maps are also a valuable tool for genome-wide applications such as genome-wide association studies, quantitative trait loci mapping or genome scans. Here, we investigated chromosomal evolution in Chinook salmon (Oncorhynchus tshawytscha) after genome duplication by mapping 7146 restriction-site associated DNA loci in gynogenetic haploid, gynogenetic diploid, and diploid crosses. In the process, we developed a reference database of restriction-site associated DNA loci for Chinook salmon comprising 48528 non-duplicated loci and 6409 known duplicated loci, which will facilitate locus identification and data sharing. We created a very dense linkage map anchored to all 34 chromosomes for the species, and all arms were identified through centromere mapping. The map positions of 799 duplicated loci revealed that homeologous pairs have diverged at different rates following whole genome duplication, and that degree of differentiation along arms was variable. Many of the homeologous pairs with high numbers of duplicated markers appear conserved with other salmon species, suggesting that retention of conserved homeologous pairing in some arms preceded species divergence. As chromosome arms are highly conserved across species, the major resources developed for Chinook salmon in this study are also relevant for other related species.

  16. Differential Gene Expression Profiles in Coronary Heart Disease Patients of Blood Stasis Syndrome in Traditional Chinese Medicine and Clinical Role of Target Gene

    Institute of Scientific and Technical Information of China (English)

    马晓娟; 殷惠军; 陈可冀

    2009-01-01

    Objective:To investigate the differential gene expression profiles in coronary heart disease(CHD) patients of blood-stasis syndrome(BSS) by oligonucleotide microarray technique,and the clinical significance of target gene.Methods:Subjects were assigned to CHD patients with BSS(n=8),CHD patients without BSS (n=8),and BSS patients without CHD(n=8) based on coronary angiography and the diagnostic criteria of BSS. The sex- and age-matched healthy volunteers(n=8) were enrolled as the control group.Venous bloo...

  17. 病证结合辨治帕金森病与帕金森综合征%Differentiating Syndrome and Treatment of Parkinson' s Disease and Parkinsonism Based on Combination of the Disease and the Syndrome

    Institute of Scientific and Technical Information of China (English)

    张俊龙; 闫川慧

    2012-01-01

    帕金森病与帕金森综合征的西医病名相近,源于二病的症状表现类似,而中医学则将二者统一于“老年颤证”范畴,更是因为中医学命名疾病多依据症状.单从症状判断,易混淆二者,如诊断错误,治疗的准确性则无从谈起.中医学历来重视辨“证”,而相对忽略对“病”的辨析.从帕金森病和帕金森综合征来看,中医学在“病”的层面上并未区分二者.但中医学对两病的疗效却毋庸置疑,原因就在其“辨证”的准确性上.21世纪的今天,临床医生完全可以借助实验室检查,辨清两病.以中医辨证论治为主,结合西医诊断明确疾病,病证结合,取长补短,采用针对性更强的治疗手段,将能大幅提高综合治疗的效果和患者的生存质量.%Name of Parkinson' s Disease ( PD ) and Parkinsonism is approximate, because these two kinds of diseases symptoms are similar. Both PD and Parkinsonism are in the range of tremor, but also because symptom is one of naming principle of Traditional Chinese Medicine. Diagnosis only depends on the symptom, which is easy to be mistaken and not to mention the accuracy of treatment. TCM always pays attention to differentiating syndrome, but it ignores relatively differentiating disease. TCM understands PD and Parkinsonism without distinction in the level of disease. The curative effect of TCM on them is outstanding, because it is accurate in syndrome differentiation. Now clinician could discern the two by means of laboratory examination. Relied primarily on treatment based on syndrome differentiation of TCM, and supplemented by western medicine diagnosis to make clear disease,which is combination of the disease and the syndrome. The advantage is complementary and using the targeted therapy, which would greatly increase the effect of comprehensive treatment and the patients' quality of life.

  18. The Duplicate-Replacement System: An Alternative Method of Handling Book Duplicates.

    Science.gov (United States)

    Clement, Russell T.

    This report studied the alternative method of using book duplicates as replacement copies for worn or missing stack items. The simple operational procedure which is proposed and evaluated could be adapted to virtually any library setting. When tested in Brigham Young University's Lee Library, it was found that such a procedure cost an estimated…

  19. Lack of differential pattern in central adiposity and metabolic syndrome in Barrett's esophagus and gastroesophageal reflux disease.

    LENUS (Irish Health Repository)

    Healy, L A

    2012-02-01

    Obesity is an established risk factor for esophageal adenocarcinoma, although the mechanism is unclear. A pathway from reflux to inflammation through metaplasia is the dominant hypothesis, and an added role relating to visceral adiposity and the metabolic syndrome has been mooted in Barrett\\'s esophagus (BE) patients. Whether BE differs from gastroesophageal reflux disease (GERD) in obesity and metabolic syndrome profiles is unclear, and this was the focus of this study. Patients with proven BE or GERD were randomly selected from the unit data registry and invited to attend for metabolic syndrome screening, anthropometry studies including segmental body composition analysis, and laboratory tests including fasting lipids, insulin, and C-reactive protein. Metabolic syndrome was defined using the National Cholesterol Education Program (NCEP) and the International Diabetes Federation (IDF) criteria. One hundred and eighteen BE patients and 113 age- and sex-matched GERD controls were studied. The incidence of obesity (body mass index >30 kg\\/m(2)) was 36% and 38%, respectively, with the pattern of fat deposition predominantly central and an estimated trunk fat mass of 13 and 14 kg, respectively. Using the NCEP criteria, metabolic syndrome was significantly more common in the BE cohort (30% vs 20%, P < 0.05), but there was no significant difference using IDF criteria (42% vs 37%, P= 0.340). Central obesity and the metabolic syndrome are common in both Barrett\\'s and GERD cohorts, but not significantly different, suggesting that central obesity and the metabolic syndrome does not per se impact on the development of BE in a reflux population. In BE, the importance of obesity and the metabolic syndrome in disease progression merits further study.

  20. Duplicated Collecting System in a Series of Children

    Directory of Open Access Journals (Sweden)

    Belde KASAP

    2012-09-01

    Full Text Available OBJECTIVE: To report a series of children with duplicated collecting system (DCS and associated problems. MATERIAL and METHODS: The data of patients with DCS between 1996 and 2011 was reviewed retrospectively. RESULTS: DCS was reported in 59 (M/F:18/41 patients. Mean age at diagnosis was 81.5±41.3 (3- 159 months, mean follow-up duration was 32.2±29.1 (3-130 months. Presenting symptoms were urinary tract infection in 33, nocturnal enuresis in three, diurnal enuresis in two, kidney stones in three and miscellaneous in the rest of the patients. The diagnostic modalities were magnetic resonance urography in three, voiding cystourography in fi ve and intravenous pyelography in the rest. Twentyfour (41% had right-sided, 24 (41% had left-sided and 11 (18% had bilateral DCS in a total of 70 renal units. Insertion of ureters into the bladder could be demonstrated in 33 units (20 incomplete, 13 complete. Vesicoureteral refl ux was found in 16, and ureterocele was found in four renal units. There was refl ux to both moieties in two patients. Surgical interventions included partial nephrectomy in two, ureteroureterostomy in one and anti-refl ux surgery in three of the patients. One patient had Noonan Syndrome and another had atrial septal defect. CONCLUSION: This series was reported to emphasize the clinical and anatomical problems associated with DCS.

  1. Comparing the effects of differential reinforcement of other behavior and response-cost contingencies on tics in youth with Tourette syndrome.

    Science.gov (United States)

    Capriotti, Matthew R; Brandt, Bryan C; Ricketts, Emily J; Espil, Flint M; Woods, Douglas W

    2012-01-01

    Tics are rapid, repetitive, stereotyped movements or vocalizations that arise from neurobiological dysfunction and are influenced by environmental factors. Although persons with tic disorders often experience aversive social reactions in response to tics, little is known about the behavioral effects of such consequences. Along several dimensions, the present study compared the effects of two treatments on tics: response cost (RC) and differential reinforcement of other behavior (DRO). Four children with Tourette syndrome were exposed to free-to-tic baseline, DRO, RC, and quasibaseline rebound evaluation conditions using an alternating treatments design. Both DRO and RC produced substantial decreases in tics from baseline levels. No differential effects of DRO and RC contingencies were seen on self-reported stress or in the strength of the reflexive motivating operation (i.e., premonitory urge) believed to trigger tics, and neither condition produced tic-rebound effects. Implications of these findings and directions for future research are discussed.

  2. Cholecystitis of a duplicated gallbladder complicated by a cholecystoenteric fistula

    Energy Technology Data Exchange (ETDEWEB)

    Huang, Brady K. [University of Rochester Medical Center, Department of Imaging Sciences, Rochester, NY (United States); Chess, Mitchell A. [University of Rochester Medical Center, Department of Imaging Sciences, Rochester, NY (United States); Advanced Imaging, Batavia, NY (United States)

    2009-04-15

    Gallbladder duplications are uncommon anatomic variants that are sometimes mistaken for other entities on imaging. We present a surgically confirmed case of cholecystitis in a ductular-type duplicated gallbladder complicated by the formation of an inflammatory fistula to the adjacent duodenum. Both US and magnetic resonance cholangiopancreatography were performed preoperatively, in addition to intraoperative cholangiography, which confirmed the presence of a duplicated gallbladder. (orig.)

  3. The Down syndrome-related protein kinase DYRK1A phosphorylates p27(Kip1) and Cyclin D1 and induces cell cycle exit and neuronal differentiation.

    Science.gov (United States)

    Soppa, Ulf; Schumacher, Julian; Florencio Ortiz, Victoria; Pasqualon, Tobias; Tejedor, Francisco J; Becker, Walter

    2014-01-01

    A fundamental question in neurobiology is how the balance between proliferation and differentiation of neuronal precursors is maintained to ensure that the proper number of brain neurons is generated. Substantial evidence implicates DYRK1A (dual specificity tyrosine-phosphorylation-regulated kinase 1A) as a candidate gene responsible for altered neuronal development and brain abnormalities in Down syndrome. Recent findings support the hypothesis that DYRK1A is involved in cell cycle control. Nonetheless, how DYRK1A contributes to neuronal cell cycle regulation and thereby affects neurogenesis remains poorly understood. In the present study we have investigated the mechanisms by which DYRK1A affects cell cycle regulation and neuronal differentiation in a human cell model, mouse neurons, and mouse brain. Dependent on its kinase activity and correlated with the dosage of overexpression, DYRK1A blocked proliferation of SH-SY5Y neuroblastoma cells within 24 h and arrested the cells in G₁ phase. Sustained overexpression of DYRK1A induced G₀ cell cycle exit and neuronal differentiation. Furthermore, we provide evidence that DYRK1A modulated protein stability of cell cycle-regulatory proteins. DYRK1A reduced cellular Cyclin D1 levels by phosphorylation on Thr286, which is known to induce proteasomal degradation. In addition, DYRK1A phosphorylated p27(Kip1) on Ser10, resulting in protein stabilization. Inhibition of DYRK1A kinase activity reduced p27(Kip1) Ser10 phosphorylation in cultured hippocampal neurons and in embryonic mouse brain. In aggregate, these results suggest a novel mechanism by which overexpression of DYRK1A may promote premature neuronal differentiation and contribute to altered brain development in Down syndrome.

  4. Characterization of a complex rearrangement involving duplication and deletion of 9p in an infant with craniofacial dysmorphism and cardiac anomalies

    Directory of Open Access Journals (Sweden)

    Di Bartolo Daniel L

    2012-07-01

    Full Text Available Abstract Partial duplication and partial deletion of the short arm of chromosome 9 have each been reported in the literature as clinically recognizable syndromes. We present clinical, cytogenetic, and molecular findings on a five-week-old female infant with concomitant duplication and terminal deletion of the short arm of chromosome 9. To our knowledge ten such cases have previously been reported. Conventional cytogenetic analysis identified additional material on chromosome 9 at band p23. FISH analysis aided in determining the additional material consisted of an inverted duplication with a terminal deletion of the short arm. Microarray analysis confirmed this interpretation and further characterized the abnormality as a duplication of about 32.7 Mb, from 9p23 to 9p11.2, and a terminal deletion of about 11.5 Mb, from 9p24.3 to 9p23. The infant displayed characteristic features of Duplication 9p Syndrome (hypotonia, bulbous nose, single transverse palmar crease, cranial anomalies, as well as features associated with Deletion 9p Syndrome (flat nasal bridge, long philtrum, cardiac anomalies despite the deletion being distal to the reported critical region for this syndrome. This case suggests that there are genes or regulatory elements that lie outside of the reported critical region responsible for certain phenotypic features associated with Deletion 9p Syndrome. It also underscores the importance of utilizing array technology to precisely define abnormalities involving the short arm of 9p in order to further refine genotype/phenotype associations and to identify additional cases of duplication/deletion.

  5. Duplicate inferior vena cava filters: more is not always better.

    Science.gov (United States)

    Katyal, Anup; Javed, Muhammad Ali

    2016-01-01

    Duplication of the inferior vena cava (IVC) has been reported in literature. This achieves clinical significance in the setting of lower extremity venous thromboembolism with a contraindication for anticoagulation. We describe a case of lower extremity deep vein thrombosis with duplicate IVC. Anticoagulation was contraindicated in this case leading to successful treatment with double IVC filters. We conducted a PubMed search for all current English language published literature, where filters were placed in the presence of duplicate IVC. We suggest that patients with deep vein thrombosis should have an accurate assessment of venous anatomy before IVC filter placement. Duplication of IVC, although rare, should be considered as this has management implications.

  6. Persistence of duplicated PAC1 receptors in the teleost, Sparus auratus

    Directory of Open Access Journals (Sweden)

    Clark Melody S

    2007-11-01

    Full Text Available Abstract Background: Duplicated genes are common in vertebrate genomes. Their persistence is assumed to be either a consequence of gain of novel function (neofunctionalisation or partitioning of the function of the ancestral molecule (sub-functionalisation. Surprisingly few studies have evaluated the extent of such modifications despite the numerous duplicated receptor and ligand genes identified in vertebrate genomes to date. In order to study the importance of function in the maintenance of duplicated genes, sea bream (Sparus auratus PAC1 receptors, sequence homologues of the mammalian receptor specific for PACAP (Pituitary Adenylate Cyclase-Activating Polypeptide, were studied. These receptors belong to family 2 GPCRs and most of their members are duplicated in teleosts although the reason why both persist in the genome is unknown. Results: Duplicate sea bream PACAP receptor genes (sbPAC1A and sbPAC1B, members of family 2 GPCRs, were isolated and share 77% amino acid sequence identity. RT-PCR with specific primers for each gene revealed that they have a differential tissue distribution which overlaps with the distribution of the single mammalian receptor. Furthermore, in common with mammals, the teleost genes undergo alternative splicing and a PAC1Ahop1 isoform has been characterised. Duplicated orthologous receptors have also been identified in other teleost genomes and their distribution profile suggests that function may be species specific. Functional analysis of the paralogue sbPAC1s in Cos7 cells revealed that they are strongly stimulated in the presence of mammalian PACAP27 and PACAP38 and far less with VIP (Vasoactive Intestinal Peptide. The sbPAC1 receptors are equally stimulated (LOGEC50 values for maximal cAMP production in the presence of PACAP27 (-8.74 ± 0.29 M and -9.15 ± 0.21 M, respectively for sbPAC1A and sbPAC1B, P > 0.05 and PACAP38 (-8.54 ± 0.18 M and -8.92 ± 0.24 M, respectively for sbPAC1A and sbPAC1B, P > 0

  7. Dietary n-3:n-6 fatty acid ratios differentially influence hormonal signature in a rodent model of metabolic syndrome relative to healthy controls

    Directory of Open Access Journals (Sweden)

    Koch Lauren G

    2010-06-01

    Full Text Available Abstract Dietary ratios of omega-3 (n-3 to omega-6 (n-6 polyunsaturated fatty acids (PUFAs have been implicated in controlling markers of the metabolic syndrome, including insulin sensitivity, inflammation, lipid profiles and adiposity. However, the role of dietary PUFAs in regulating energy systems in healthy relative to metabolic diseased backgrounds has not been systematically addressed. We used dietary manipulation of n-3 to n-6 PUFA ratios in an animal model of metabolic syndrome and a related healthy line to assay feeding behavior and endocrine markers of feeding drive and energy regulation. Two related lines of rodents with a healthy and a metabolic syndrome phenotype were fed one of two isocaloric diets, comprised of either a 1:1 or a 1:30 n-3 to n-6 ratio, for 30 days. Food intake and weight gain were monitored; and leptin, ghrelin, adiponectin and a suite of hypothalamic neuropeptides involved in energy regulation were assayed following the dietary manipulation period. There was no difference in caloric intake or weight gain between diet groups, however there was a significant interaction between diet and phenotypic line on central and peripheral markers of energy homeostasis. Thus serum levels of leptin, acylated-ghrelin and adiponectin, and mRNA levels of the anorexigenic hypothalamic neuropeptide, cocaine-amphetamine related transcript (CART, showed differential, dietary responses with HCR rats showing an increase in anorexigenic signals in response to unbalanced n-3:6 ratios, while LCR did not. These data are the first to demonstrate that a rodent line with a metabolic syndrome-like phenotype responds differentially to dietary manipulation of n-3 and n-6 fatty acids relative to a related healthy line with regard to endocrine markers of energy homeostasis. The dietary n-3:n-6 ratios used in this experiment represent extreme points of natural human diets, however the data suggest that optimal recommendations regarding omega-3 and

  8. The Obvious Understanding Of Primary Hypertension's Nursing Based Upon Syndrome Differentiation%原发性高血压病的辨证施护

    Institute of Scientific and Technical Information of China (English)

    钱冬; 张亚明

    2011-01-01

    根据原发性高血压病的病理特点,结合中医治疗高血压病的辨证分型,着重于宏观与微观相结合、辨证与辨病施护相结合,药物与非药物疗法相结合的护理原则,强调高血压病患者护理个体化,以人为本,突出中医护理特色.%According to the pathological features of primary hypertension, the combination of the classification of syndrome differentiation of TCM's treatment of hypertension ,focusing on the principle of the combination of the macro and the micro ,the nursing based upon disease and syndrome differentiation ,the therapy of drug and non -drug ,the author embodies the individual nursing of the patient who has hypertension, basing on patient , outstanding the characteristics of TCM' s nursing.

  9. Comparison of Body, Auricular, and Abdominal Acupuncture Treatments for Insomnia Differentiated as Internal Harassment of Phlegm-Heat Syndrome: An Orthogonal Design

    Directory of Open Access Journals (Sweden)

    Yue Jiao

    2015-01-01

    Full Text Available Objective. To identify the optimum treatment protocol for insomnia among auricular, body, and abdominal needling methods. Methods. A three-factor (3 needling protocols and three-level experimental scheme was designed based on orthogonal method. 54 patients of insomnia differentiated as internal harassment of phlegm-heat syndrome were given two courses of acupuncture treatment (each with 20 times of acupuncture. The therapeutic effects were evaluated by comparing the Pittsburgh sleep quality index (PSQI, Hamilton Depression Scale (HAMD scores, and Hamilton Anxiety Scale (HAMA scores of patients before treatment, after one course of treatment, and after two courses of treatment as well as one month after treatment. Results. Body, auricular, and abdominal acupuncture treatments all alleviated symptoms of insomnia, depression, and anxiety, but body and auricular acupuncture had stronger therapeutic effects. Conclusions. Body acupuncture at basic points shall be given priority in protocol selection for insomnia. The second-best choice is auricular acupuncture with basic points combined with points based on Traditional Chinese Medicine (TCM theories. Abdominal needling with very quick effect can be an alternative protocol with basic points combined with syndrome differentiation points.

  10. 小儿难治性哮喘的辨证与思路%Syndrome differentiation and ideas in children with refractory asthma

    Institute of Scientific and Technical Information of China (English)

    王和清; 李瞻

    2013-01-01

      目的:探讨辨证施治治疗小儿难治性哮喘的效果。方法:总结本人临床采用中医理论治疗小儿难治性哮喘的经验,主要包括:温阳是关健,勿忘活血祛瘀,久喘勿忘消食,倡导调肝理肺等理论。结论:采用辨证施治治疗疗效满意,值得临床推广。%Objective: To investigate the effect of syndrome differentiation and treatment in children with refractory asthma. Methods:The experiences of children refractory asthma treated with TCM science were summarized, which including Wenyang, Huoxue Huayu, digestion, Tiaogan Lifei etc. theories. Conclusion: Syndrome differentiation and treatment is effective on treating children refractory asthma, worthy of a wide clinical application.

  11. Special Issue: Gene Conversion in Duplicated Genes

    Directory of Open Access Journals (Sweden)

    Hideki Innan

    2011-06-01

    Full Text Available Gene conversion is an outcome of recombination, causing non-reciprocal transfer of a DNA fragment. Several decades later than the discovery of crossing over, gene conversion was first recognized in fungi when non-Mendelian allelic distortion was observed. Gene conversion occurs when a double-strand break is repaired by using homologous sequences in the genome. In meiosis, there is a strong preference to use the orthologous region (allelic gene conversion, which causes non-Mendelian allelic distortion, but paralogous or duplicated regions can also be used for the repair (inter-locus gene conversion, also referred to as non-allelic and ectopic gene conversion. The focus of this special issue is the latter, interlocus gene conversion; the rate is lower than allelic gene conversion but it has more impact on phenotype because more drastic changes in DNA sequence are involved.

  12. Duplicación apendicular Appendicular duplication

    Directory of Open Access Journals (Sweden)

    Fidel Taquechel Barreto

    2011-09-01

    Full Text Available El apéndice cecal es un órgano pródigamente estudiado, debido a la gran frecuencia con que se producen inflamaciones agudas en él, no obstante, son menos conocidas las anomalías congénitas que resultan en una duplicación apendicular, por ser esta una entidad rara. Se presenta un caso de una paciente que se interviene quirúrgicamente por una apendicitis aguda, en la cual se encontró otro apéndice cecal. Se realiza discusión y revisión del tema.Cecal appendix is much studied organ due to the high frequency of its acute inflammations, however, the congenital anomalies are less associated resulting in a appendicular duplication because of it is a rare entity. This is the case of a female patient operated on due to acute appendicitis founding another cecal appendix.

  13. Benchmarking Transcriptome Quantification Methods for Duplicated Genes in Xenopus laevis.

    Science.gov (United States)

    Kwon, Taejoon

    2015-01-01

    Xenopus is an important model organism for the study of genome duplication in vertebrates. With the full genome sequence of diploid Xenopus tropicalis available, and that of allotetraploid X. laevis close to being finished, we will be able to expand our understanding of how duplicated genes have evolved. One of the key features in the study of the functional consequence of gene duplication is how their expression patterns vary across different conditions, and RNA-seq seems to have enough resolution to discriminate the expression of highly similar duplicated genes. However, most of the current RNA-seq analysis methods were not designed to study samples with duplicate genes such as in X. laevis. Here, various computational methods to quantify gene expression in RNA-seq data were evaluated, using 2 independent X. laevis egg RNA-seq datasets and 2 reference databases for duplicated genes. The fact that RNA-seq can measure expression levels of similar duplicated genes was confirmed, but long paired-end reads are more informative than short single-end reads to discriminate duplicated genes. Also, it was found that bowtie, one of the most popular mappers in RNA-seq analysis, reports significantly smaller numbers of unique hits according to a mapping quality score compared to other mappers tested (BWA, GSNAP, STAR). Calculated from unique hits based on a mapping quality score, both expression levels and the expression ratio of duplicated genes can be estimated consistently among biological replicates, demonstrating that this method can successfully discriminate the expression of each copy of a duplicated gene pair. This comprehensive evaluation will be a useful guideline for studying gene expression of organisms with genome duplication using RNA-seq in the future.

  14. 纤维肌痛综合征中医分型论治探讨%On syndrome differentiation and treatment of fibromyalgia syndrome

    Institute of Scientific and Technical Information of China (English)

    高玉中

    2010-01-01

    @@ 纤维肌痛综合征(fibromyalgia syndrome,FMS)是一种非关节性风湿病,是风湿病科门诊就诊率较高的疾病之一,约占10%-30%[1].本病好发于20-50岁的女性,临床表现以广泛性肌肉骨骼系统疼痛、发僵、疲劳,在特定部位有压痛点为特征,并伴有失眠、焦虑、抑郁等症状.

  15. Differential expression of the Middle East respiratory syndrome coronavirus receptor in the upper respiratory tracts of humans and dromedary camels

    NARCIS (Netherlands)

    W. Widagdo; V.S. Raj (Stalin); D. Schipper (Debby); K. Kolijn (Kimberley); G.J.H.L. Leenders (Geert); B.J. Bosch (Berend Jan); A. Bensaid (Albert); J. Segalés (Joaquim); W. Baumgärtner (Wolfgang); A.D.M.E. Osterhaus (Albert); M.P.G. Koopmans D.V.M. (Marion); J.M.A. van den Brand (Judith); B.L. Haagmans (Bart)

    2016-01-01

    textabstractMiddle East respiratory syndrome coronavirus (MERS-CoV) is not efficiently transmitted between humans, but it is highly prevalent in dromedary camels. Here we report that the MERS-CoV receptor-dipeptidyl peptidase 4 (DPP4)-is expressed in the upper respiratory tract epithelium of camels

  16. The parent-of-origin of the extra X chromosome may differentially affect psychopathology in Klinefelter syndrome

    NARCIS (Netherlands)

    Bruining, Hilgo; van Rijn, Sophie; Swaab, Hanna; Giltay, Jacques; Kates, Wendy; Kas, Martien J H; van Engeland, Herman; de Sonneville, Leo

    2010-01-01

    BACKGROUND: Several genetic mechanisms have been proposed for the variability of the Klinefelter syndrome (KS) phenotype such as the parent-of-origin of the extra X chromosome. Parent-of-origin effects on behavior in KS can possibly provide insights into X-linked imprinting effects on psychopatholog

  17. The Parent-of-Origin of the Extra X Chromosome May Differentially Affect Psychopathology in Klinefelter Syndrome

    NARCIS (Netherlands)

    Bruining, Hilgo; van Rijn, Sophie; Swaab, Hanna; Giltay, Jacques; Kates, Wendy; Kas, Martien J. H.; van Engeland, Herman; de Sonneville, Leo

    2010-01-01

    Background: Several genetic mechanisms have been proposed for the variability of the Klinefelter syndrome (KS) phenotype such as the parent-of-origin of the extra X chromosome. Parent-of-origin effects on behavior in KS can possibly provide insights into X-linked imprinting effects on psychopatholog

  18. Differential regional cerebral glucose metabolism in clinical syndromes of frontotemporal lobar degeneration: a study with FDG PET

    Energy Technology Data Exchange (ETDEWEB)

    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.

  19. Median nerve deformation in differential finger motions : Ultrasonographic comparison of carpal tunnel syndrome patients and healthy controls

    NARCIS (Netherlands)

    van Doesburg, Margriet H. M.; Henderson, Jacqueline; Yoshii, Yuichi; van der Molen, Aebele B. Mink; Cha, Stephen S.; An, Kai-Nan; Amadio, Peter C.

    2012-01-01

    We investigated the median nerve deformation in the carpal tunnel in patients with carpal tunnel syndrome and controls during thumb, index finger, middle finger, and a four finger motion, using ultrasound. Both wrists of 29 asymptomatic volunteers and 29 patients with idiopathic carpal tunnel syndro

  20. A rare case of congenital Y-type urethral duplication

    Directory of Open Access Journals (Sweden)

    Charu Tiwari

    2015-11-01

    Full Text Available Duplication of urethra is a rare congenital anomaly. We report a case of Y-type of urethral duplication with the accessory urethra arising from posterior urethra and opening in the perineum. The orthotopic urethra was normal. The accessory urethral tract was cored, transfixed and divided. At 1 year of follow-up, the patient has no urinary complaints

  1. Gene duplication models for directed networks with limits on growth

    Science.gov (United States)

    Enemark, Jakob; Sneppen, Kim

    2007-11-01

    Background: Duplication of genes is important for evolution of molecular networks. Many authors have therefore considered gene duplication as a driving force in shaping the topology of molecular networks. In particular it has been noted that growth via duplication would act as an implicit means of preferential attachment, and thereby provide the observed broad degree distributions of molecular networks. Results: We extend current models of gene duplication and rewiring by including directions and the fact that molecular networks are not a result of unidirectional growth. We introduce upstream sites and downstream shapes to quantify potential links during duplication and rewiring. We find that this in itself generates the observed scaling of transcription factors for genome sites in prokaryotes. The dynamical model can generate a scale-free degree distribution, p(k)\\propto 1/k^{\\gamma } , with exponent γ = 1 in the non-growing case, and with γ>1 when the network is growing. Conclusions: We find that duplication of genes followed by substantial recombination of upstream regions could generate features of genetic regulatory networks. Our steady state degree distribution is however too broad to be consistent with data, thereby suggesting that selective pruning acts as a main additional constraint on duplicated genes. Our analysis shows that gene duplication can only be a main cause for the observed broad degree distributions if there are also substantial recombinations between upstream regions of genes.

  2. Dynamic Delayed Duplicate Detection for External Memory Model Checking

    DEFF Research Database (Denmark)

    Evangelista, Sami

    2008-01-01

    Duplicate detection is an expensive operation of disk-based model checkers. It consists of comparing some potentially new states, the candidate states, to previous visited states. We propose a new approach to this technique called dynamic delayed duplicate detection. This one exploits some typical...

  3. Penile shaft sinus: A sequalae of circumcision in urethral duplication

    Directory of Open Access Journals (Sweden)

    Lukman O Abdur-Rahman

    2009-01-01

    Full Text Available Urethral duplication (UD is rare congenital anomalies with varied presentation. Careful clinical evaluation of children by specialist would enhance diagnosis, adequate management and reduce occurrence of complication. We present a 12-year-old boy with chronic post circumcision ventral penile sinus that was successfully managed for urethral duplication.

  4. 44 CFR 206.191 - Duplication of benefits.

    Science.gov (United States)

    2010-10-01

    ... individuals and families. (b) Government policy. (1) Federal agencies providing disaster assistance under the... duplication of benefits, according to the general policy guidance of the Federal Emergency Management Agency... disaster relief agencies establish and follow policies and procedures to prevent and remedy duplication...

  5. 42 CFR 457.626 - Prevention of duplicate payments.

    Science.gov (United States)

    2010-10-01

    ... 42 Public Health 4 2010-10-01 2010-10-01 false Prevention of duplicate payments. 457.626 Section... Payments to States § 457.626 Prevention of duplicate payments. (a) General rule. No payment shall be made... CFR 144.103, which is not part of, or wholly owned by, a governmental entity. Prompt payment...

  6. 40 CFR 25.13 - Coordination and non-duplication.

    Science.gov (United States)

    2010-07-01

    ... PROGRAMS UNDER THE RESOURCE CONSERVATION AND RECOVERY ACT, THE SAFE DRINKING WATER ACT, AND THE CLEAN WATER ACT § 25.13 Coordination and non-duplication. The public participation activities and materials that... 40 Protection of Environment 1 2010-07-01 2010-07-01 false Coordination and non-duplication....

  7. 10 CFR 7.21 - Cost of duplication of documents.

    Science.gov (United States)

    2010-01-01

    ... 10 Energy 1 2010-01-01 2010-01-01 false Cost of duplication of documents. 7.21 Section 7.21 Energy NUCLEAR REGULATORY COMMISSION ADVISORY COMMITTEES § 7.21 Cost of duplication of documents. Copies of the records, reports, transcripts, minutes, appendices, working papers, drafts, studies, agenda, or...

  8. 29 CFR 1912.4 - Avoidance of duplication.

    Science.gov (United States)

    2010-07-01

    ... 29 Labor 7 2010-07-01 2010-07-01 false Avoidance of duplication. 1912.4 Section 1912.4 Labor... (CONTINUED) ADVISORY COMMITTEES ON STANDARDS Organizational Matters § 1912.4 Avoidance of duplication. No... advisory committee established under section 7(b) of the Act....

  9. Evolution after whole-genome duplication: a network perspective.

    Science.gov (United States)

    Zhu, Yun; Lin, Zhenguo; Nakhleh, Luay

    2013-11-06

    Gene duplication plays an important role in the evolution of genomes and interactomes. Elucidating how evolution after gene duplication interplays at the sequence and network level is of great interest. In this work, we analyze a data set of gene pairs that arose through whole-genome duplication (WGD) in yeast. All these pairs have the same duplication time, making them ideal for evolutionary investigation. We investigated the interplay between evolution after WGD at the sequence and network levels and correlated these two levels of divergence with gene expression and fitness data. We find that molecular interactions involving WGD genes evolve at rates that are three orders of magnitude slower than the rates of evolution of the corresponding sequences. Furthermore, we find that divergence of WGD pairs correlates strongly with gene expression and fitness data. Because of the role of gene duplication in determining redundancy in biological systems and particularly at the network level, we investigated the role of interaction networks in elucidating the evolutionary fate of duplicated genes. We find that gene neighborhoods in interaction networks provide a mechanism for inferring these fates, and we developed an algorithm for achieving this task. Further epistasis analysis of WGD pairs categorized by their inferred evolutionary fates demonstrated the utility of these techniques. Finally, we find that WGD pairs and other pairs of paralogous genes of small-scale duplication origin share similar properties, giving good support for generalizing our results from WGD pairs to evolution after gene duplication in general.

  10. 47 CFR 61.73 - Duplication of rates or regulations.

    Science.gov (United States)

    2010-10-01

    ... 47 Telecommunication 3 2010-10-01 2010-10-01 false Duplication of rates or regulations. 61.73 Section 61.73 Telecommunication FEDERAL COMMUNICATIONS COMMISSION (CONTINUED) COMMON CARRIER SERVICES... Duplication of rates or regulations. A carrier concurring in schedules of another carrier must not...

  11. 49 CFR 24.3 - No duplication of payments.

    Science.gov (United States)

    2010-10-01

    ... 49 Transportation 1 2010-10-01 2010-10-01 false No duplication of payments. 24.3 Section 24.3 Transportation Office of the Secretary of Transportation UNIFORM RELOCATION ASSISTANCE AND REAL PROPERTY ACQUISITION FOR FEDERAL AND FEDERALLY-ASSISTED PROGRAMS General § 24.3 No duplication of payments. No...

  12. Testing of duplicate rinse aliquots for presence of Salmonella

    Science.gov (United States)

    Testing of chicken carcass rinses for Salmonella prevalence is often performed in duplicate because of the potential importance of the results, but anecdotal reports indicate that duplicate samples often disagree. This might be due to normal variation in microbiological methods or to the testing of...

  13. Salivary gland homeostasis is maintained through acinar cell self-duplication.

    Science.gov (United States)

    Aure, Marit H; Konieczny, Stephen F; Ovitt, Catherine E

    2015-04-20

    Current dogma suggests that salivary gland homeostasis is stem cell dependent. However, the extent of stem cell contribution to salivary gland maintenance has not been determined. We investigated acinar cell replacement during homeostasis, growth, and regeneration, using an inducible CreER(T2) expressed under the control of the Mist1 gene locus. Genetic labeling, followed by a chase period, showed that acinar cell replacement is not driven by the differentiation of unlabeled stem cells. Analysis using R26(Brainbow2.1) reporter revealed continued proliferation and clonal expansion of terminally differentiated acinar cells in all major salivary glands. Induced injury also demonstrated the regenerative potential of pre-labeled acinar cells. Our results support a revised model for salivary gland homeostasis based predominantly on self-duplication of acinar cells, rather than on differentiation of stem cells. The proliferative capacity of differentiated acinar cells may prove critical in the implementation of cell-based strategies to restore the salivary glands.

  14. Duplication and divergent evolution of the CHS and CHS-like genes in the chalcone synthase (CHS) superfamily

    Institute of Scientific and Technical Information of China (English)

    2006-01-01

    The enzymes of the CHS-superfamily are responsible for biosynthesis of a wide range of natural products in plants. They are important for flower pigmentation, protection against UV light and defense against phytopathogens. Many plants were found to contain multiple copies of CHS genes. This review summarizes the recent progress in the studies of the CHS-superfamily, focusing on the duplication and divergent evolution of the CHS and CHS-like genes. Comparative analyses of gene structure, expression patterns and catalytic properties revealed extensive differentiation in both regulation and function among duplicate CHS genes. It is also proposed that the CHS-like enzymes in the CHS-superfamily evolved from CHS at different times in various organisms. The CHS-superfamily thus offers a valuable model to study the rates and patterns of sequence divergence between duplicate genes.

  15. Gene duplication and divergence affecting drug content in Cannabis sativa.

    Science.gov (United States)

    Weiblen, George D; Wenger, Jonathan P; Craft, Kathleen J; ElSohly, Mahmoud A; Mehmedic, Zlatko; Treiber, Erin L; Marks, M David

    2015-12-01

    Cannabis sativa is an economically important source of durable fibers, nutritious seeds, and psychoactive drugs but few economic plants are so poorly understood genetically. Marijuana and hemp were crossed to evaluate competing models of cannabinoid inheritance and to explain the predominance of tetrahydrocannabinolic acid (THCA) in marijuana compared with cannabidiolic acid (CBDA) in hemp. Individuals in the resulting F2 population were assessed for differential expression of cannabinoid synthase genes and were used in linkage mapping. Genetic markers associated with divergent cannabinoid phenotypes were identified. Although phenotypic segregation and a major quantitative trait locus (QTL) for the THCA/CBDA ratio were consistent with a simple model of codominant alleles at a single locus, the diversity of THCA and CBDA synthase sequences observed in the mapping population, the position of enzyme coding loci on the map, and patterns of expression suggest multiple linked loci. Phylogenetic analysis further suggests a history of duplication and divergence affecting drug content. Marijuana is distinguished from hemp by a nonfunctional CBDA synthase that appears to have been positively selected to enhance psychoactivity. An unlinked QTL for cannabinoid quantity may also have played a role in the recent escalation of drug potency.

  16. Are duplicated genes responsible for anthracnose resistance in common bean?

    Science.gov (United States)

    Costa, Larissa Carvalho; Nalin, Rafael Storto; Ramalho, Magno Antonio Patto; de Souza, Elaine Aparecida

    2017-01-01

    The race 65 of Colletotrichum lindemuthianum, etiologic agent of anthracnose in common bean, is distributed worldwide, having great importance in breeding programs for anthracnose resistance. Several resistance alleles have been identified promoting resistance to this race. However, the variability that has been detected within race has made it difficult to obtain cultivars with durable resistance, because cultivars may have different reactions to each strain of race 65. Thus, this work aimed at studying the resistance inheritance of common bean lines to different strains of C. lindemuthianum, race 65. We used six C. lindemuthianum strains previously characterized as belonging to the race 65 through the international set of differential cultivars of anthracnose and nine commercial cultivars, adapted to the Brazilian growing conditions and with potential ability to discriminate the variability within this race. To obtain information on the resistance inheritance related to nine commercial cultivars to six strains of race 65, these cultivars were crossed two by two in all possible combinations, resulting in 36 hybrids. Segregation in the F2 generations revealed that the resistance to each strain is conditioned by two independent genes with the same function, suggesting that they are duplicated genes, where the dominant allele promotes resistance. These results indicate that the specificity between host resistance genes and pathogen avirulence genes is not limited to races, it also occurs within strains of the same race. Further research may be carried out in order to establish if the alleles identified in these cultivars are different from those described in the literature.

  17. Two cases of the caudal duplication anomaly including a discordant monozygotic twin

    NARCIS (Netherlands)

    Kroes, HY; Takahashi, M; Zijlstra, RJ; Baert, JALL; Kooi, KA; Hofstra, RMW; van Essen, AJ

    2002-01-01

    We present two unrelated patients with various duplications in the caudal region. One patient presented with a duplication of the distal spine from L4, left double ureter, duplication of the vagina and cervix, and duplication of the distal colon. The second patient was diagnosed with a duplication

  18. Two cases of the caudal duplication anomaly including a discordant monozygotic twin

    NARCIS (Netherlands)

    Kroes, HY; Takahashi, M; Zijlstra, RJ; Baert, JALL; Kooi, KA; Hofstra, RMW; van Essen, AJ

    2002-01-01

    We present two unrelated patients with various duplications in the caudal region. One patient presented with a duplication of the distal spine from L4, left double ureter, duplication of the vagina and cervix, and duplication of the distal colon. The second patient was diagnosed with a duplication o

  19. Detection of tandam duplications and implications for linkage analysis

    Energy Technology Data Exchange (ETDEWEB)

    Matise, T.C.; Weeks, D.E. (Univ. of Pittsburgh, PA (United States)); Chakravarti, A. (Case Western Reserve Univ., Cleveland, OH (United States)); Patel, P.I.; Lupski, J.R. (Baylor College of Medicine, Houston, TX (United States)); Nelis, E.; Timmerman, V.; Van Broeckhoven, C. (Univ. of Antwerp (Belgium))

    1994-06-01

    The first demonstration of an autosomal dominant human disease caused by segmental trisomy came in 1991 for Charcot-Marie-Tooth disease type 1A (CMT1A). For this disorder, the segmental trisomy is due to a large tandem duplication of 1.5 Mb of DNA located on chromosome 17p11.2-p12. The search for the CMT1A disease gene was misdirected and impeded because some chromosome 17 genetic markers that are linked to CMT1A lie within this duplication. To better understand how such a duplication might affect genetic analyses in the context of disease gene mapping, the authors studied the effects of marker duplication on transmission probabilities of marker alleles, on linkage analysis of an autosomal dominant disease, and on tests of linkage homogeneity. They demonstrate that the undetected presence of a duplication distorts transmission ratios, hampers fine localization of the disease gene, and increases false evidence of linkage heterogeneity. In addition, they devised a likelihood-based method for detecting the presence of a tandemly duplicated marker when one is suspected. They tested their methods through computer simulations and on CMT1A pedigrees genotyped at several chromosome 17 markers. On the simulated data, the method detected 96% of duplicated markers (with a false-positive rate of 5%). On the CMT1A data the method successfully identified two of three loci that are duplicated (with no false positives). This method could be used to identify duplicated markers in other regions of the genome and could be used to delineate the extent of duplications similar to that involved in CMT1A. 18 refs., 5 figs., 6 tabs.

  20. Histone modification pattern evolution after yeast gene duplication

    Directory of Open Access Journals (Sweden)

    Zou Yangyun

    2012-07-01

    Full Text Available Abstract Background Gene duplication and subsequent functional divergence especially expression divergence have been widely considered as main sources for evolutionary innovations. Many studies evidenced that genetic regulatory network evolved rapidly shortly after gene duplication, thus leading to accelerated expression divergence and diversification. However, little is known whether epigenetic factors have mediated the evolution of expression regulation since gene duplication. In this study, we conducted detailed analyses on yeast histone modification (HM, the major epigenetics type in this organism, as well as other available functional genomics data to address this issue. Results Duplicate genes, on average, share more common HM-code patterns than random singleton pairs in their promoters and open reading frames (ORF. Though HM-code divergence between duplicates in both promoter and ORF regions increase with their sequence divergence, the HM-code in ORF region evolves slower than that in promoter region, probably owing to the functional constraints imposed on protein sequences. After excluding the confounding effect of sequence divergence (or evolutionary time, we found the evidence supporting the notion that in yeast, the HM-code may co-evolve with cis- and trans-regulatory factors. Moreover, we observed that deletion of some yeast HM-related enzymes increases the expression divergence between duplicate genes, yet the effect is lower than the case of transcription factor (TF deletion or environmental stresses. Conclusions Our analyses demonstrate that after gene duplication, yeast histone modification profile between duplicates diverged with evolutionary time, similar to genetic regulatory elements. Moreover, we found the evidence of the co-evolution between genetic and epigenetic elements since gene duplication, together contributing to the expression divergence between duplicate genes.

  1. Hexon based PCRs combined with restriction enzyme analysis for rapid detection and differentiation of fowl adenoviruses and egg drop syndrome virus.

    Science.gov (United States)

    Raue, R; Hess, M

    1998-08-01

    Three different polymerase chain reactions (PCRs), two of them combined with restriction enzyme analysis (REA), were developed for detection and differentiation of all 12 fowl adenovirus (FAV) serotypes and the egg drop syndrome (EDS) virus. For primer construction FAV1, FAV10 and EDS virus hexon proteins were aligned and conserved and variable regions were determined. Two primer sets (H1/H2 and H3/H4) for single use were constructed which hybridize in three conserved regions of hexon genes. Each primer pair amplifies approximately half of the hexon gene including two loop regions. An amplification product was detected with both primer sets using purified DNA from all FAV1-12 reference strains. Viral EDS DNA was negative using the H1/H2 or H3/H4 primer pair. HaeII digestion of the H1/H2 amplification products differentiates between all viruses except FAV4 and FAV5. In comparison, much more clustering among genomic closely related FAV serotypes was seen after HpaII digestion of the H3/H4 PCR products. Oligonucleotides H5/H6 located in the variable regions of EDS virus hexon gene do not detect any of the FAV serotypes. The PCRs and REA described are suitable to detect all avian adenoviruses infecting chickens, to distinguish all 12 FAV reference strains and to differentiate FAVs from the EDS virus.

  2. Early Electrodiagnostic Features of Upper Extremity Sensory Nerves Can Differentiate Axonal Guillain-Barré Syndrome from Acute Inflammatory Demyelinating Polyneuropathy

    Science.gov (United States)

    Koo, Yong Seo; Shin, Ha Young; Kim, Jong Kuk; Nam, Tai-Seung; Shin, Kyong Jin; Bae, Jong-Seok; Suh, Bum Chun; Oh, Jeeyoung; Yoon, Byeol-A

    2016-01-01

    Background and Purpose Serial nerve conduction studies (NCSs) are recommended for differentiating axonal and demyelinating Guillain-Barré syndrome (GBS), but this approach is not suitable for early diagnoses. This study was designed to identify possible NCS parameters for differentiating GBS subtypes. Methods We retrospectively reviewed the medical records of 70 patients with GBS who underwent NCS within 10 days of symptom onset. Patients with axonal GBS and acute inflammatory demyelinating polyneuropathy (AIDP) were selected based on clinical characteristics and serial NCSs. An antiganglioside antibody study was used to increase the diagnostic certainty. Results The amplitudes of median and ulnar nerve sensory nerve action potentials (SNAPs) were significantly smaller in the AIDP group than in the axonal-GBS group. Classification and regression-tree analysis revealed that the distal ulnar sensory nerve SNAP amplitude was the best predictor of axonal GBS. Conclusions Early upper extremity sensory NCS findings are helpful in differentiating axonal-GBS patients with antiganglioside antibodies from AIDP patients. PMID:27819421

  3. Syndrome Differentiation and Treatment of Polycystic Ovary Syndrome%论中医药治疗多囊卵巢综合征

    Institute of Scientific and Technical Information of China (English)

    代玉

    2013-01-01

    多囊卵巢综合征是一种常见的女性生殖内分泌疾病,中医认为本病多以肾虚为主,伴有痰湿瘀血气滞,临床上多采用补肾活血、健脾化痰、疏肝理气的治疗方法.%Polycystic ovary syndrome is a common female reproductive endocrine disease, traditional Chinese medicine believes that this diseases is due to kidney deficiency, accompanied by phlegm, blood stasis and qi stagnation, commonly used clinical treatments are invigorating kidney and spleen, promoting blood circulation, resolving phlegm, soothing liver and regulating qi.

  4. CONTRIBUTION OF THE AUDIOLOGICAL AND VESTIBULAR ASSESSMENT TO THE DIFFERENTIAL AND ETIOLOGICAL DIAGNOSIS OF PERIPHERIC VESTIBULAR SYNDROMES

    OpenAIRE

    2012-01-01

    Scope of the study: Vestibular pathology is a complex one, requiring a minute clinical evaluation, as well as numerous paraclinical investigations. The present study analyzes the contribution of the modern methods of vestibular and auditive investigation to the diagnosis of dizziness. Materials and method: The results of the investigations performed on 84 patients with peripheric vestibular syndrome, on whom a complete audiological and vestibular assessment had been...

  5. Novel Duplicate Address Detection with Hash Function.

    Science.gov (United States)

    Song, GuangJia; Ji, ZhenZhou

    2016-01-01

    Duplicate address detection (DAD) is an important component of the address resolution protocol (ARP) and the neighbor discovery protocol (NDP). DAD determines whether an IP address is in conflict with other nodes. In traditional DAD, the target address to be detected is broadcast through the network, which provides convenience for malicious nodes to attack. A malicious node can send a spoofing reply to prevent the address configuration of a normal node, and thus, a denial-of-service attack is launched. This study proposes a hash method to hide the target address in DAD, which prevents an attack node from launching destination attacks. If the address of a normal node is identical to the detection address, then its hash value should be the same as the "Hash_64" field in the neighboring solicitation message. Consequently, DAD can be successfully completed. This process is called DAD-h. Simulation results indicate that address configuration using DAD-h has a considerably higher success rate when under attack compared with traditional DAD. Comparative analysis shows that DAD-h does not require third-party devices and considerable computing resources; it also provides a lightweight security resolution.

  6. Quantitative fluorescent-PCR detection of sex chromosome aneuploidies and AZF deletions/duplications.

    Science.gov (United States)

    Plaseski, Toso; Noveski, Predrag; Trivodalieva, Svetlana; Efremov, Georgi D; Plaseska-Karanfilska, Dijana

    2008-12-01

    The most common genetic causes of spermatogenic failure are sex chromosomal abnormalities (most frequently Klinefelter's syndrome) and deletions of the azoospermia factor (AZF) regions (AZFa, AZFb, and AZFc) of the Y chromosome. Several studies have proposed that partial AZFc deletions/duplications may be a risk factor for spermatogenic impairment. We describe a multiplex quantitative fluorescent-polymerase chain reaction (QF-PCR) method that allows simultaneous detection of these genetic causes and risk factors of male infertility. The 11-plex QF-PCR permitted the amplification of the amelogenin gene, four polymorphic X-specific short tandem repeat (STR) markers (XHPRT, DXS6803, DXS981, and exon 1 of the androgen receptor gene), nonpolymorphic Y-specific marker (SRY gene), polymorphic Y-specific STR marker (DYS448), and coamplification of DAZ/DAZL, MYPT2Y/MYPT2, and two CDY2/CDY1 fragments that allow for determination of the DAZ, MYPT2Y, and CDY gene copy number. A total of 357 DNA samples from infertile/subfertile men (n = 205) and fertile controls (n = 152) was studied. We detected 14 infertile males with sex chromosome aneuploidy (10 with Klinefelter's syndrome, 2 XX, and 2 XYY males). All previously detected AZF deletions, that is, AZFc (n8), AZFb (n1), AZFb + c (n1), gr/gr (n11), gr/gr with b2/b4 duplication (n3), and b2/b3 (n5), gave a specific pattern with the 11-plex QF-PCR. In addition, 32 DNA samples showed a pattern consistent with presence of gr/gr or b2/b4 and 4 with b2/b3 duplication. We conclude that multiplex QF-PCR is a rapid, simple, reliable, and inexpensive method that can be used as a first-step genetic analysis in infertile/subfertile patients.

  7. SAPHO syndrome.

    Science.gov (United States)

    Carneiro, Sueli; Sampaio-Barros, Percival D

    2013-05-01

    SAPHO syndrome is a disorder characterized by Synovitis, Acne, Pustulosis, Hyperostosis, and Osteitis. As the osteoarticular and skin manifestations often do not occur simultaneously and there are no validated diagnostic criteria, the diagnosis can be difficult. Clinical and imaging investigation is necessary to establish the many differential diagnoses of SAPHO syndrome. The etiopathogenesis involves infectious (probably Propionibacterium acnes), immunologic, and genetic factors. Treatment is based on information gathered from case reports and small series, and is related to specific skin or articular symptoms.

  8. Duplicated laboratory tests: evaluation of a computerized alert intervention abstract.

    Science.gov (United States)

    Bridges, Sharon A; Papa, Linda; Norris, Anne E; Chase, Susan K

    2014-01-01

    Redundant testing contributes to reductions in healthcare system efficiency. The purpose of this study was to: (1) determine if the use of a computerized alert would reduce the number and cost of duplicated Acute Hepatitis Profile (AHP) laboratory tests and (2) assess what patient, test, and system factors were associated with duplication. This study used a quasi-experimental pre- and post-test design to determine the proportion of duplication of the AHP test before and after implementation of a computerized alert intervention. The AHP test was duplicated if the test was requested again within 15 days of the initial test being performed and the result present in the medical record. The intervention consisted of a computerized alert (pop-up window) that indicated to the clinician that the test had recently been ordered. A total of 674 AHP tests were performed in the pre-intervention period and 692 in the postintervention group. In the pre-intervention period, 53 (7.9%) were duplicated and in postintervention, 18 (2.6%) were duplicated (ptests (p≤.001). Implementation of computerized alerts may be useful in reducing duplicate laboratory tests and improving healthcare system efficiency.

  9. 糖尿病肾病分期辨证治疗研究概况%Research Situation of Treatment Based on Syndrome Differentiation of Diabetic Nephropathy

    Institute of Scientific and Technical Information of China (English)

    姜晓倩

    2013-01-01

    糖尿病肾病是糖尿病最常见的微血管并发症之一,各医家学者根据糖尿病肾病各期临床特点不同进行辨证论治,以活血化瘀通络之法贯穿治疗始终,有效控制了糖尿病肾病的发展,发挥了中医辨证治疗糖尿病肾病的优势.%Diabetic nephropathy is the most common microvascular complications of diabetes.The scholars of traditional Chinese medicine make syndrome differentiation according to diabetic nephropathy each period clinical characteristics.The method of promoting blood circulation to remove blood stasis and dredge the collaterals is throughout the treatment course, which effectively controls the development of diabetic nephropathy, and takes the advantage of traditional Chinese medicine treating diabetic nephropathy.

  10. 浅述老年湿疹的辨证论治%Discussion of syndrome differentiation and treatment of senile eczema

    Institute of Scientific and Technical Information of China (English)

    Nguyen Phuong Thuy[越南; 张诚昊; 杨恩品

    2016-01-01

    Senile eczema in recent years has increased, its etiology, pathogenesis and traditional Chinese medcine have own characteristics. This paper to prove the cause of eczema in elder is due to the imbalance of Yin and Yang, loss of water transport, functional activity Qi being not smooth. Syndrome differentiation and treatment should pay more attention to nourishing Yin, strengthen the spleen of transportation, regulating activities Qi.%老年湿疹近年来有增高趋势,其病因病机及辨证用药有其自身特点,认为在病因病机上多存在阴阳失调、水液失运、气机失畅。辨证用药上应多注意养阴润肤、健脾助运、调畅气机。

  11. 从脏腑论治泄泻探源%Explore the origin of Zang-fu syndrome differentiation and treatment of diarrhea

    Institute of Scientific and Technical Information of China (English)

    康洪昌; 周正华

    2013-01-01

    Through the combing TCM literature about diarrhoea,this article to analyze relationship between the occurrence of diarrhoea and Zang-fu. For correct diagnosis and treatment diarrhoea to provide helpless, we explore the historical origin and development of Zang-fu syndrome differentiation and treatment of diarrhea. The results showed that although the spleen and stomach is the foundation of diarrhea,but all the viscera can lead to the occurrence of diarrhea.%通过梳理古代文献关于泄泻的论述,分析了泄泻的发生与各脏腑的关系,探讨“脏腑论泄”的历史源流,为正确辨证论治泄泻提供裨助.结果发现虽云“泄泻之本,无不由于脾胃”,但五脏六腑皆令人泻,非独脾胃也.

  12. 蛇串疮辨证施护55例体会%Experience of Nursing Based on Syndrome Differentiation for 55 Cases of Herpes Zoster

    Institute of Scientific and Technical Information of China (English)

    徐琳

    2012-01-01

    蛇串疮是疼痛性疱疹性皮肤病,文章从一般护理常规、辨证施护、皮肤护理、疼痛护理、情志护理及饮食护理等方面较详细阐述了蛇串疮的辨证施护体会,提示多方面联合进行中医护理可提高临床疗效.%Herpes zoster is a skin disease characterized by pain and herpes. The nursing experience was explained from many aspects, including nursing routine, nursing based on syndrome differentiation, skin nursing, pain nursing, emotion nursing and diet nursing. It is proved that TCM combined with western medicine can improve the effect.

  13. Increased copy number for methylated maternal 15q duplications leads to changes in gene and protein expression in human cortical samples

    Directory of Open Access Journals (Sweden)

    Scoles Haley A

    2011-12-01

    Full Text Available Abstract Background Duplication of chromosome 15q11-q13 (dup15q accounts for approximately 3% of autism cases. Chromosome 15q11-q13 contains imprinted genes necessary for normal mammalian neurodevelopment controlled by a differentially methylated imprinting center (imprinting center of the Prader-Willi locus, PWS-IC. Maternal dup15q occurs as both interstitial duplications and isodicentric chromosome 15. Overexpression of the maternally expressed gene UBE3A is predicted to be the primary cause of the autistic features associated with dup15q. Previous analysis of two postmortem dup15q frontal cortical samples showed heterogeneity between the two cases, with one showing levels of the GABAA receptor genes, UBE3A and SNRPN in a manner not predicted by copy number or parental imprint. Methods Postmortem human brain tissue (Brodmann area 19, extrastriate visual cortex was obtained from 8 dup15q, 10 idiopathic autism and 21 typical control tissue samples. Quantitative PCR was used to confirm duplication status. Quantitative RT-PCR and Western blot analyses were performed to measure 15q11-q13 transcript and protein levels, respectively. Methylation-sensitive high-resolution melting-curve analysis was performed on brain genomic DNA to identify the maternal:paternal ratio of methylation at PWS-IC. Results Dup15q brain samples showed a higher level of PWS-IC methylation than control or autism samples, indicating that dup15q was maternal in origin. UBE3A transcript and protein levels were significantly higher than control and autism in dup15q, as expected, although levels were variable and lower than expected based on copy number in some samples. In contrast, this increase in copy number did not result in consistently increased GABRB3 transcript or protein levels for dup15q samples. Furthermore, SNRPN was expected to be unchanged in expression in dup15q because it is expressed from the single unmethylated paternal allele, yet SNRPN levels were significantly

  14. “主象”指导从肾辨证规律探析%"Main Manifestations" in Guiding the Kidney Syndrome Differentiation

    Institute of Scientific and Technical Information of China (English)

    陈慧娟; 梁尚华; 朱凌凌

    2013-01-01

    在文献研究基础上,提出部位定位、时间定位、病因定位、色部定位、主味定位、凭脉定位、形体官窍定位、功能定位等多种从肾定位的方法,指出“腰为肾府”“肾主冬”“尺以候肾”等理论对指导从肾辨证具有重要价值.然在实际运用中还需“多象互参”,才能保证结论的可靠性.%On the basis of literature study,this paper put forward several locating methods:position,time,pathogenesis,color and region,taste,pulse,constituent and sensory organ,function,etc.for the kidney syndrome.We view that the theories,such as “waist is the house of kidney” “kidney govenns winter” “Chi-pulse manifests kidney” play an important role in kidney syndrome differentiation.While “multi-manifestation” should be considered in clinical practice.

  15. Meier-Gorlin syndrome mutations disrupt an Orc1 CDK inhibitory domain and cause centrosome reduplication.

    Science.gov (United States)

    Hossain, Manzar; Stillman, Bruce

    2012-08-15

    Like DNA replication, centrosomes are licensed to duplicate once per cell division cycle to ensure genetic stability. In addition to regulating DNA replication, the Orc1 subunit of the human origin recognition complex controls centriole and centrosome copy number. Here we report that Orc1 harbors a PACT centrosome-targeting domain and a separate domain that differentially inhibits the protein kinase activities of Cyclin E-CDK2 and Cyclin A-CDK2. A cyclin-binding motif (Cy motif) is required for Orc1 to bind Cyclin A and inhibit Cyclin A-CDK2 kinase activity but has no effect on Cyclin E-CDK2 kinase activity. In contrast, Orc1 inhibition of Cyclin E-CDK2 kinase activity occurs by a different mechanism that is affected by Orc1 mutations identified in Meier-Gorlin syndrome patients. The cyclin/CDK2 kinase inhibitory domain of Orc1, when tethered to the PACT domain, localizes to centrosomes and blocks centrosome reduplication. Meier-Gorlin syndrome mutations that disrupt Cyclin E-CDK2 kinase inhibition also allow centrosome reduplication. Thus, Orc1 contains distinct domains that control centrosome copy number and DNA replication. We suggest that the Orc1 mutations present in some Meier-Gorlin syndrome patients contribute to the pronounced microcephaly and dwarfism observed in these individuals by altering centrosome duplication in addition to DNA replication defects.

  16. [Visceral syndrome differentiation in traditional Chinese medicine and the changes of nutrition status or blood gas analysis in patients with chronic obstructive pulmonary disease].

    Science.gov (United States)

    Mao, Bing; Li, Wen; Liang, Wen-qiong

    2007-09-01

    To investigate the relationship between visceral syndrome differentiation in traditional Chinese medicine (TCM) and the changes of nutrition status or blood gas analysis in patients with chronic obstructive pulmonary disease (COPD). Sixty patients with COPD in stable phase were divided into dysfunction of lung (DL, n=20) group, dysfunction of lung and spleen (DLS, n=16) group and dysfunction of lung, spleen and kidney (DLSK, n=24) group according to syndrome differentiation of TCM. Moreover, the basic electric rhythm, percentage of bradygastria in electrogastrogram (EGG), ratio of actual body weight (ABW) to ideal body weight (IBW) and serum albumin level were determined to evaluate the nutrition status of the patients with COPD. Blood gas analysis was made too. The basic electric rhythm values in the DL, DLS and DLSK groups were (56.20+/-13.24)%, (47.38+/-10.24)% and (41.35+/-10.01)%, respectively. Compared with the DL group, the basic electric rhythm values in the DLS and DLSK groups decreased obviously (P0.05). The incidence rates of ABW/IBW0.05). The incidence rates of serum albumin less than 35 g/L were 20%, 37.5% and 54.17%, respectively, and there were no differences among the three groups (P>0.05). PO2 in the DLS group [(63.56+/-15.06) mmHg] and DLSK group [(63.17+/-19.05) mmHg] were decreased as compared with the DL group [(78.15+/-16.63) mmHg] (P0.05). Several dysfunction organs described in TCM were involved in COPD followed by the increased severity, hypoxemia and PCO2. Dysfunction of gastrointestinal tract and malnourishment took place accordingly.

  17. Foregut duplication cysts of the stomach with respiratory epithelium

    Institute of Scientific and Technical Information of China (English)

    Theodosios Theodosopoulos; Athanasios Marinis; Konstantinos Karapanos; Georgios Vassilikostas; Nikolaos Dafnios; Lazaros Samanides; Eleni Carvounis

    2007-01-01

    Gastrointestinal duplication is a congenital rare disease entity. Gastric duplication cysts seem to appear even more rarely. Herein, two duplications cysts of the stomach in a 46 year-old female patient are presented.Abdominal computed tomography demonstrated a cystic lesion attached to the posterior aspect of the gastric fundus, while upper gastrointestinal endoscopy was negative. An exploratory laparotomy revealed a non-communicating cyst and a smaller similar cyst embedded in the gastrosplenic ligament. Excision of both cysts along with the spleen was performed and pathology reported two smooth muscle coated cysts with a pseudostratified ciliated epithelial lining (respiratory type).

  18. Methods, apparatus and system for selective duplication of subtasks

    Energy Technology Data Exchange (ETDEWEB)

    Andrade Costa, Carlos H.; Cher, Chen-Yong; Park, Yoonho; Rosenburg, Bryan S.; Ryu, Kyung D.

    2016-03-29

    A method for selective duplication of subtasks in a high-performance computing system includes: monitoring a health status of one or more nodes in a high-performance computing system, where one or more subtasks of a parallel task execute on the one or more nodes; identifying one or more nodes as having a likelihood of failure which exceeds a first prescribed threshold; selectively duplicating the one or more subtasks that execute on the one or more nodes having a likelihood of failure which exceeds the first prescribed threshold; and notifying a messaging library that one or more subtasks were duplicated.

  19. Benchmarks for measurement of duplicate detection methods in nucleotide databases.

    Science.gov (United States)

    Chen, Qingyu; Zobel, Justin; Verspoor, Karin

    2017-01-08

    Duplication of information in databases is a major data quality challenge. The presence of duplicates, implying either redundancy or inconsistency, can have a range of impacts on the quality of analyses that use the data. To provide a sound basis for research on this issue in databases of nucleotide sequences, we have developed new, large-scale validated collections of duplicates, which can be used to test the effectiveness of duplicate detection methods. Previous collections were either designed primarily to test efficiency, or contained only a limited number of duplicates of limited kinds. To date, duplicate detection methods have been evaluated on separate, inconsistent benchmarks, leading to results that cannot be compared and, due to limitations of the benchmarks, of questionable generality. In this study, we present three nucleotide sequence database benchmarks, based on information drawn from a range of resources, including information derived from mapping to two data sections within the UniProt Knowledgebase (UniProtKB), UniProtKB/Swiss-Prot and UniProtKB/TrEMBL. Each benchmark has distinct characteristics. We quantify these characteristics and argue for their complementary value in evaluation. The benchmarks collectively contain a vast number of validated biological duplicates; the largest has nearly half a billion duplicate pairs (although this is probably only a tiny fraction of the total that is present). They are also the first benchmarks targeting the primary nucleotide databases. The records include the 21 most heavily studied organisms in molecular biology research. Our quantitative analysis shows that duplicates in the different benchmarks, and in different organisms, have different characteristics. It is thus unreliable to evaluate duplicate detection methods against any single benchmark. For example, the benchmark derived from UniProtKB/Swiss-Prot mappings identifies more diverse types of duplicates, showing the importance of expert curation, but

  20. Finding all sorting tandem duplication random loss operations

    DEFF Research Database (Denmark)

    Bernt, Matthias; Chen, Kuan Yu; Chen, Ming Chiang

    2011-01-01

    A tandem duplication random loss (TDRL) operation duplicates a contiguous segment of genes, followed by the random loss of one copy of each of the duplicated genes. Although the importance of this operation is founded by several recent biological studies, it has been investigated only rarely from...... a theoretical point of view. Of particular interest are sorting TDRLs which are TDRLs that, when applied to a permutation representing a genome, reduce the distance towards another given permutation. The identification of sorting genome rearrangement operations in general is a key ingredient of many algorithms...