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Sample records for chromosome 17q distal

  1. Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12

    OpenAIRE

    Nagamani, Sandesh Chakravarthy Sreenath; Erez, Ayelet; Shen, Joseph; Li, Chumei; Roeder, Elizabeth; Cox, Sarah; Karaviti, Lefkothea; Pearson, Margret; Kang, Sung-Hae L; Sahoo, Trilochan; Lalani, Seema R; Stankiewicz, Pawel; Sutton, V Reid; Cheung, Sau Wai

    2009-01-01

    Deletions in chromosome 17q12 encompassing the HNF1β gene cause cystic renal disease and maturity onset diabetes of the young, and have been recently described as the first recurrent genomic deletion leading to diabetes. Earlier reports of patients with this microdeletion syndrome have suggested an absence of cognitive impairment, differentiating it from most other contiguous gene deletion syndromes. The reciprocal duplication of 17q12 is rare and has been hypothesized to be associated with a...

  2. Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12.

    Science.gov (United States)

    Nagamani, Sandesh Chakravarthy Sreenath; Erez, Ayelet; Shen, Joseph; Li, Chumei; Roeder, Elizabeth; Cox, Sarah; Karaviti, Lefkothea; Pearson, Margret; Kang, Sung-Hae L; Sahoo, Trilochan; Lalani, Seema R; Stankiewicz, Pawel; Sutton, V Reid; Cheung, Sau Wai

    2010-03-01

    Deletions in chromosome 17q12 encompassing the HNF1 beta gene cause cystic renal disease and maturity onset diabetes of the young, and have been recently described as the first recurrent genomic deletion leading to diabetes. Earlier reports of patients with this microdeletion syndrome have suggested an absence of cognitive impairment, differentiating it from most other contiguous gene deletion syndromes. The reciprocal duplication of 17q12 is rare and has been hypothesized to be associated with an increased risk of epilepsy and mental retardation. We conducted a detailed clinical and molecular characterization of four patients with a deletion and five patients with a reciprocal duplication of this region. Our patients with deletion of 17q12 presented with cognitive impairment, cystic renal disease, seizures, and structural abnormalities of the brain. Patients with reciprocal duplications manifest with cognitive impairment and behavioral abnormalities, but not with seizures. Our findings expand the phenotypic spectrum associated with rearrangements of 17q12 and show that cognitive impairment is a part of the phenotype of individuals with deletions of 17q12.

  3. Hominoid chromosomal rearrangements on 17q map to complex regions of segmental duplication.

    Science.gov (United States)

    Cardone, Maria Francesca; Jiang, Zhaoshi; D'Addabbo, Pietro; Archidiacono, Nicoletta; Rocchi, Mariano; Eichler, Evan E; Ventura, Mario

    2008-01-01

    Chromosomal rearrangements, such as translocations and inversions, are recurrent phenomena during evolution, and both of them are involved in reproductive isolation and speciation. To better understand the molecular basis of chromosome rearrangements and their part in karyotype evolution, we have investigated the history of human chromosome 17 by comparative fluorescence in situ hybridization (FISH) and sequence analysis. Human bacterial artificial chromosome/p1 artificial chromosome probes spanning the length of chromosome 17 were used in FISH experiments on great apes, Old World monkeys and New World monkeys to study the evolutionary history of this chromosome. We observed that the macaque marker order represents the ancestral organization. Human, chimpanzee and gorilla homologous chromosomes differ by a paracentric inversion that occurred specifically in the Homo sapiens/Pan troglodytes/Gorilla gorilla ancestor. Detailed analyses of the paracentric inversion revealed that the breakpoints mapped to two regions syntenic to human 17q12/21 and 17q23, both rich in segmental duplications. Sequence analyses of the human and macaque organization suggest that the duplication events occurred in the catarrhine ancestor with the duplication blocks continuing to duplicate or undergo gene conversion during evolution of the hominoid lineage. We propose that the presence of these duplicons has mediated the inversion in the H. sapiens/P. troglodytes/G. gorilla ancestor. Recently, the same duplication blocks have been shown to be polymorphic in the human population and to be involved in triggering microdeletion and duplication in human. These results further support a model where genomic architecture has a direct role in both rearrangement involved in karyotype evolution and genomic instability in human.

  4. Familial isolated clubfoot is associated with recurrent chromosome 17q23.1q23.2 microduplications containing TBX4.

    Science.gov (United States)

    Alvarado, David M; Aferol, Hyuliya; McCall, Kevin; Huang, Jason B; Techy, Matthew; Buchan, Jillian; Cady, Janet; Gonzales, Patrick R; Dobbs, Matthew B; Gurnett, Christina A

    2010-07-09

    Clubfoot is a common musculoskeletal birth defect for which few causative genes have been identified. To identify the genes responsible for isolated clubfoot, we screened for genomic copy-number variants with the Affymetrix Genome-wide Human SNP Array 6.0. A recurrent chromosome 17q23.1q23.2 microduplication was identified in 3 of 66 probands with familial isolated clubfoot. The chromosome 17q23.1q23.2 microduplication segregated with autosomal-dominant clubfoot in all three families but with reduced penetrance. Mild short stature was common and one female had developmental hip dysplasia. Subtle skeletal abnormalities consisted of broad and shortened metatarsals and calcanei, small distal tibial epiphyses, and thickened ischia. Several skeletal features were opposite to those described in the reciprocal chromosome 17q23.1q23.2 microdeletion syndrome associated with developmental delay and cardiac and limb abnormalities. Of note, during our study, we also identified a microdeletion at the locus in a sibling pair with isolated clubfoot. The chromosome 17q23.1q23.2 region contains the T-box transcription factor TBX4, a likely target of the bicoid-related transcription factor PITX1 previously implicated in clubfoot etiology. Our result suggests that this chromosome 17q23.1q23.2 microduplication is a relatively common cause of familial isolated clubfoot and provides strong evidence linking clubfoot etiology to abnormal early limb development. Copyright 2010 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

  5. NEUROD2 and NEUROD3 genes map to human chromosomes 17q12 and 5q23-q31 and mouse chromosomes 11 and 13, respectively

    Energy Technology Data Exchange (ETDEWEB)

    Tamimi, R.M.; Montgomery-Dyer, K.; Tapscott, S.J. [Fred Hutchinson Cancer Research Center, Seattle, WA (United States)] [and others

    1997-03-01

    NEUROD2 and NEUROD3 are transcription factors involved in neurogenesis that are related to the basic helix-loop-helix protein NEUROD. NEUROD2 maps to human chromosome 17q12 and mouse chromosome 11. NEUROD3 maps to human chromosome 5q23-q31 and mouse chromosome 13. 16 refs., 2 figs.

  6. Chromosome 17q21 gene variants are associated with asthma and exacerbations but not atopy in early childhood

    DEFF Research Database (Denmark)

    Bisgaard, Hans; Bønnelykke, Klaus; Sleiman, Patrick M A

    2009-01-01

    RATIONALE: An asthma predisposition locus on chromosome 17q12-q21 has recently been replicated in different ethnic groups. OBJECTIVES: To characterize the asthma and atopy phenotypes in early childhood that associate with the 17q12-21 locus. METHODS: The single nucleotide polymorphism (SNP), rs......7216389, was genotyped in 376 of 411 children from the Copenhagen Prospective Study on Asthma in Childhood (COPSAC) birth cohort born to mothers with asthma together with 305 mothers and 224 fathers. Nineteen additional SNPs in the region were genotyped in the children. Investigator-diagnosed clinical...... of wheeze (hazard ratio 1.64 [1.05-2.59], P value = 0.03), asthma (hazard ratio, 1.88 [1.15-3.07], P = 0.01), and acute severe exacerbations (hazard ratio 2.66 [1.58-4.48], P value = 0.0002). The effect on wheeze and asthma was observed for early onset but not late onset of disease. The increased risk...

  7. A novel locus for Usher syndrome type I, USH1G, maps to chromosome 17q24-25.

    Science.gov (United States)

    Mustapha, Mirna; Chouery, Eliane; Torchard-Pagnez, Delphine; Nouaille, Sylvie; Khrais, Awni; Sayegh, Fouad N; Mégarbané, André; Loiselet, Jacques; Lathrop, Mark; Petit, Christine; Weil, Dominique

    2002-04-01

    Usher syndrome (USH) is an autosomal recessive disorder associated with sensorineural hearing impairment and progressive visual loss attributable to retinitis pigmentosa. This syndrome is both clinically and genetically heterogeneous. Three clinical types have been described of which type I (USH1) is the most severe. Six USH1 loci have been identified. We report a Palestinian consanguineous family from Jordan with three affected children. In view of the combination of profound hearing loss, vestibular dysfunction, and retinitis pigmentosa in the patients, we classified the disease as USH1. Linkage analysis excluded the involvement of any of the known USH1 loci. A genome-wide screening allowed us to map this novel locus, USH1G, in a 23-cM interval on chromosome 17q24-25. The USH1G interval overlaps the intervals for two dominant forms of isolated hearing loss, namely DFNA20 and DFNA26. Since several examples have been reported of syndromic and isolated forms of deafness being allelic, USH1G, DFNA20, and DFNA26 might result from alterations of the same gene. Finally, a mouse mutant, jackson shaker ( js), with deafness and circling behavior has been mapped to the murine homologous region on chromosome 11.

  8. Effects of a 17q21 chromosome gene variant, tobacco smoke and furred pets on infant wheeze

    DEFF Research Database (Denmark)

    Bräuner, E V; Loft, S; Raaschou-Nielsen, O

    2012-01-01

    investigated associations between the rs7216389 polymorphism in the 17q21 locus affecting ORMDL3 expression and the risk for recurrent wheeze and interactions with exposure to tobacco smoke and furred pets during pregnancy and infancy using a birth cohort of 101¿042 infants. Rs7216389 was significantly...... association between pets and wheeze among homozygous wild-type carriers and a negative association among homozygous variant allele carriers. There was no interaction between rs7216389 and tobacco smoke exposure....

  9. Co-regulation analysis of closely linked genes identifies a highly recurrent gain on chromosome 17q25.3 in prostate cancer

    International Nuclear Information System (INIS)

    Bermudo, Raquel; Martínez-A, Carlos; Ortiz, Ángel R; Fernández, Pedro L; Thomson, Timothy M; Abia, David; Ferrer, Berta; Nayach, Iracema; Benguria, Alberto; Zaballos, Ángel; Rey, Javier del; Miró, Rosa; Campo, Elías

    2008-01-01

    Transcriptional profiling of prostate cancer (PC) has unveiled new markers of neoplasia and allowed insights into mechanisms underlying this disease. Genomewide analyses have also identified new chromosomal abnormalities associated with PC. The combination of both classes of data for the same sample cohort might provide better criteria for identifying relevant factors involved in neoplasia. Here we describe transcriptional signatures identifying distinct normal and tumoral prostate tissue compartments, and the inference and demonstration of a new, highly recurrent copy number gain on chromosome 17q25.3. We have applied transcriptional profiling to tumoral and non-tumoral prostate samples with relatively homogeneous epithelial representations as well as pure stromal tissue from peripheral prostate and cultured cell lines, followed by quantitative RT-PCR validations and immunohistochemical analysis. In addition, we have performed in silico colocalization analysis of co-regulated genes and validation by fluorescent in situ hybridization (FISH). The transcriptomic analysis has allowed us to identify signatures corresponding to non-tumoral luminal and tumoral epithelium, basal epithelial cells, and prostate stromal tissue. In addition, in silico analysis of co-regulated expression of physically linked genes has allowed us to predict the occurrence of a copy number gain at chromosomal region 17q25.3. This computational inference was validated by fluorescent in situ hybridization, which showed gains in this region in over 65% of primary and metastatic tumoral samples. Our approach permits to directly link gene copy number variations with transcript co-regulation in association with neoplastic states. Therefore, transcriptomic studies of carefully selected samples can unveil new diagnostic markers and transcriptional signatures highly specific of PC, and lead to the discovery of novel genomic abnormalities that may provide additional insights into the causes and mechanisms

  10. An autosomal recessive leucoencephalopathy with ischemic stroke, dysmorphic syndrome and retinitis pigmentosa maps to chromosome 17q24.2-25.3

    Directory of Open Access Journals (Sweden)

    Bouhouche Ahmed

    2012-03-01

    Full Text Available Abstract Background Single-gene disorders related to ischemic stroke seem to be an important cause of stroke in young patients without known risk factors. To identify new genes responsible of such diseases, we studied a consanguineous Moroccan family with three affected individuals displaying hereditary leucoencephalopathy with ischemic stroke, dysmorphic syndrome and retinitis pigmentosa that appears to segregate in autosomal recessive pattern. Methods All family members underwent neurological and radiological examinations. A genome wide search was conducted in this family using the ABI PRISM linkage mapping set version 2.5 from Applied Biosystems. Six candidate genes within the region linked to the disease were screened for mutations by direct sequencing. Results Evidence of linkage was obtained on chromosome 17q24.2-25.3. Analysis of recombination events and LOD score calculation suggests linkage of the responsible gene in a genetic interval of 11 Mb located between D17S789 and D17S1806 with a maximal multipoint LOD score of 2.90. Sequencing of seven candidate genes in this locus, ATP5H, FDXR, SLC25A19, MCT8, CYGB, KCNJ16 and GRIN2C, identified three missense mutations in the FDXR gene which were also found in a homozygous state in three healthy controls, suggesting that these variants are not disease-causing mutations in the family. Conclusion A novel locus for leucoencephalopathy with ischemic stroke, dysmorphic syndrome and retinitis pigmentosa has been mapped to chromosome 17q24.2-25.3 in a consanguineous Moroccan family.

  11. The human MCP-2 gene (SCYA8): Cloning, sequence analysis, tissue expression, and assignment to the CC chemokine gene contig on chromosome 17q11.2

    Energy Technology Data Exchange (ETDEWEB)

    Van Coillie, E.; Fiten, P.; Van Damme, J.; Opdenakker, G. [Univ. of Leuven (Belgium)] [and others

    1997-03-01

    Monocyte chemotactic proteins (MCPs) form a subfamily of chemokines that recruit leukocytes to sites of inflammation and that may contribute to tumor-associated leukocyte infiltration and to the antiviral state against HIV infection. With the use of degenerate primers that were based on CC chemokine consensus sequences, the known MIP-1{alpha}/LD78{alpha}, MCP-1, and MCP-3 genes and the previously unidentified eotaxin and MCP-2 genes were isolated from a YAC contig from human chromosome 17q11.2. The amplified genomic MCP-2 fragment was used to isolate an MCP-2 cosmid from which the gene sequence was determined. The MCP-2 gene shares with the MCP-1 and MCP-3 genes a conserved intron-exon structure and a coding nucleotide sequence homology of 77%. By Northern blot analysis the 1.0-kb MCP-2 mRNA was predominantly detectable in the small intestine, peripheral blood, heart, placenta, lung, skeletal muscle, ovary, colon, spinal cord, pancreas, and thymus. Transcripts of 1.5 and 2.4 kb were found in the testis, the small intestine, and the colon. The isolation of the MCP-2 gene from the chemokine contig localized it on YAC clones of chromosome 17q11.2, which also contain the eotaxin, MCP-1, MCP-3, and NCC-1/MCP-4 genes. The combination of using degenerate primer PCR and YACs illustrates that novel genes can efficiently be isolated from gene cluster contigs with less redundancy and effort than the isolation of novel ESTs. 42 refs., 5 figs., 2 tabs.

  12. Cloning and sequencing of cDNA encoding human DNA topoisomerase II and localization of the gene to chromosome region 17q21-22

    International Nuclear Information System (INIS)

    Tsai-Pflugfelder, M.; Liu, L.F.; Liu, A.A.; Tewey, K.M.; Whang-Peng, J.; Knutsen, T.; Huebner, K.; Croce, C.M.; Wang, J.C.

    1988-01-01

    Two overlapping cDNA clones encoding human DNA topoisomerase II were identified by two independent methods. In one, a human cDNA library in phage λ was screened by hybridization with a mixed oligonucleotide probe encoding a stretch of seven amino acids found in yeast and Drosophila DNA topoisomerase II; in the other, a different human cDNA library in a λgt11 expression vector was screened for the expression of antigenic determinants that are recognized by rabbit antibodies specific to human DNA topoisomerase II. The entire coding sequences of the human DNA topoisomerase II gene were determined from these and several additional clones, identified through the use of the cloned human TOP2 gene sequences as probes. Hybridization between the cloned sequences and mRNA and genomic DNA indicates that the human enzyme is encoded by a single-copy gene. The location of the gene was mapped to chromosome 17q21-22 by in situ hybridization of a cloned fragment to metaphase chromosomes and by hybridization analysis with a panel of mouse-human hybrid cell lines, each retaining a subset of human chromosomes

  13. A high-resolution whole genome radiation hybrid map of human chromosome 17q22-q25.3 across the genes for GH and TK

    Energy Technology Data Exchange (ETDEWEB)

    Foster, J.W.; Schafer, A.J.; Critcher, R. [Univ. of Cambridge (United Kingdom)] [and others

    1996-04-15

    We have constructed a whole genome radiation hybrid (WG-RH) map across a region of human chromosome 17q, from growth hormone (GH) to thymidine kinase (TK). A panel of 128 WG-RH hybrid cell lines generated by X-irradiation and fusion has been tested for the retention of 39 sequence-tagged site (STS) markers by the polymerase chain reaction. This genome mapping technique has allowed the integration of existing VNTR and microsatellite markers with additional new markers and existing STS markers previously mapped to this region by other means. The WG-RH map includes eight expressed sequence tag (EST) and three anonymous markers developed for this study, together with 23 anonymous microsatellites and five existing ESTs. Analysis of these data resulted in a high-density comprehensive map across this region of the genome. A subset of these markers has been used to produce a framework map consisting of 20 loci ordered with odds greater than 1000:1. The markers are of sufficient density to build a YAC contig across this region based on marker content. We have developed sequence tags for both ends of a 2.1-Mb YAC and mapped these using the WG-RH panel, allowing a direct comparison of cRay{sub 6000} to physical distance. 31 refs., 3 figs., 2 tabs.

  14. Analysis of autism susceptibility gene loci on chromosomes 1p, 4p, 6q, 7q, 13q, 15q, 16p, 17q, 19q and 22q in Finnish multiplex families.

    Science.gov (United States)

    Auranen, M; Nieminen, T; Majuri, S; Vanhala, R; Peltonen, L; Järvelä, I

    2000-05-01

    The role of genetic factors in the etiology of the autistic spectrum of disorders has clearly been demonstrated. Ten chromosomal regions, on chromosomes 1p, 4p, 6q, 7q, 13q, 15q, 16p, 17q, 19q and 22q have potentially been linked to autism.1-8 We have analyzed these chromosomal regions in a total of 17 multiplex families with autism originating from the isolated Finnish population by pairwise linkage analysis and sib-pair analysis. Mild evidence for putative contribution was found only with the 1p chromosomal region in the susceptibility to autism. Our data suggest that additional gene loci exist for autism which will be detectable in and even restricted to the isolated Finnish population.

  15. Autosomal dominant distal myopathy: Linkage to chromosome 14

    Energy Technology Data Exchange (ETDEWEB)

    Laing, N.G.; Laing, B.A.; Wilton, S.D.; Dorosz, S.; Mastaglia, F.L.; Kakulas, B.A. [Australian Neuromuscular Research Institute, Perth (Australia); Robbins, P.; Meredith, C.; Honeyman, K.; Kozman, H.

    1995-02-01

    We have studied a family segregating a form of autosomal dominant distal myopathy (MIM 160500) and containing nine living affected individuals. The myopathy in this family is closest in clinical phenotype to that first described by Gowers in 1902. A search for linkage was conducted using microsatellite, VNTR, and RFLP markers. In total, 92 markers on all 22 autosomes were run. Positive linkage was obtained with 14 of 15 markers tested on chromosome 14, with little indication of linkage elsewhere in the genome. Maximum two-point LOD scores of 2.60 at recombination fraction .00 were obtained for the markers MYH7 and D14S64 - the family structure precludes a two-point LOD score {ge} 3. Recombinations with D14S72 and D14S49 indicate that this distal myopathy locus, MPD1, should lie between these markers. A multipoint analysis assuming 100% penetrance and using the markers D14S72, D14S50, MYH7, D14S64, D14S54, and D14S49 gave a LOD score of exactly 3 at MYH7. Analysis at a penetrance of 80% gave a LOD score of 2.8 at this marker. This probable localization of a gene for distal myopathy, MPD1, on chromosome 14 should allow other investigators studying distal myopathy families to test this region for linkage in other types of the disease, to confirm linkage or to demonstrate the likely genetic heterogeneity. 24 refs., 3 figs., 1 tab.

  16. Recurrent duplications of 17q12 associated with variable phenotypes

    DEFF Research Database (Denmark)

    Mitchell, Elyse; Douglas, Andrew; Kjaegaard, Susanne

    2015-01-01

    The ability to identify the clinical nature of the recurrent duplication of chromosome 17q12 has been limited by its rarity and the diverse range of phenotypes associated with this genomic change. In order to further define the clinical features of affected patients, detailed clinical information......, potentially contributory copy number changes in a subset of patients, including one patient each with 16p11.2 deletion and 15q13.3 deletion. Our data further define and expand the clinical spectrum associated with duplications of 17q12 and provide support for the role of genomic modifiers contributing...... to phenotypic variability....

  17. [Prenatal diagnosis of 17q12 microdeletion syndrome in fetal renal abnormalities].

    Science.gov (United States)

    Jiang, Y L; Qi, Q W; Zhou, X Y; Geng, F F; Bai, J J; Hao, N; Liu, J T

    2017-10-25

    Objectives: To analyze 3 cases of 17q12 microdeletion syndrome diagnosed prenatally, and to demonstrate clinical phenotype of the syndrome in prenatal setting. Methods: From January 2013 to July 2017, 1 370 women received invasive prenatal diagnosis and chromosome microarray analysis (CMA) in Peking Union Medical College Hospital. Among them, 3 fetuses were diagnosed as 17q12 microdeletion syndrome. All 3 cases were low-risk pregnancies. Abnormal structures in fetal kidney were found in all 3 cases, including 1 case of multiple renal cysts, 2 cases of bilateral hyperechogenic kidneys. These women accepted invasive prenatal diagnosis followed by karyotyping, parental fluorescence in situ hybridization or CMA validation. Results: The second and third trimester ultrasound showed that all 3 fetuses had bilateral renal structural abnormalities, including hyperechogenic kidney, multiple cysts and renal pelvis dilatation. The karyotyping of the 3 fetuses were normal. CMA examination showed that each case had 1.4-1.6 Mb deletion in 17q12 region. Two cases were de novo deletion and 1 case was inherited from the mother who had mild symptoms. The 3 women decided to terminate pregnancies after genetic counseling. Conclusion: 17q12 microdeletion syndrome is a recurrent chromosome microdeletion syndrome, and the unique phenotype in prenatal setting is the abnormal structure of bilateral kidneys. A few cases of 17q12 microdeletion syndrome even inherited normally phenotypical parents, and prenatal genetic counseling of 17q12 microdeletion syndrome is relatively difficult.

  18. Genetics Home Reference: 17q12 deletion syndrome

    Science.gov (United States)

    ... with 17q12 deletion syndrome have delayed development (particularly speech and language delays), intellectual disability, or behavioral or psychiatric disorders. Behavioral and psychiatric conditions that have been reported in people with 17q12 deletion syndrome include autism ...

  19. A complex microdeletion 17q12 phenotype in a patient with recurrent de novo membranous nephropathy

    OpenAIRE

    Hinkes, Bernward; Hilgers, Karl F; Bolz, Hanno J; Goppelt-Struebe, Margarete; Amann, Kerstin; Nagl, Sandra; Bergmann, Carsten; Rascher, Wolfgang; Eckardt, Kai-Uwe; Jacobi, Johannes

    2012-01-01

    Abstract Background Microdeletions on chromosome 17q12 cause of diverse spectrum of disorders and have only recently been identified as a rare cause of Mayer-Rokitansky-Kuester-Hauser-Syndrome (MRKH), which is characterized by uterus aplasia ± partial/complete vaginal aplasia in females with a regular karyotype. For the first time we report about a patient with a 17q12 microdeletion who is affected by MRKH in combination with a vascular and soft tissue disorder. Repeatedly she suffered from k...

  20. KANSL1 gene disruption associated with the full clinical spectrum of 17q21.31 microdeletion syndrome

    OpenAIRE

    Moreno-Igoa, María; Hernández-Charro, Blanca; Bengoa-Alonso, Amaya; Pérez-Juana-del-Casal, Aranzazu; Romero-Ibarra, Carlos; Nieva-Echebarria, Beatriz; Ramos-Arroyo, María Antonia

    2015-01-01

    Background Chromosome 17q21.31 microdeletion syndrome is a multisystem genomic disorder caused by a recurrent 600-kb-long deletion, or haploinsufficiency of the chromatin modifier gene KANSL1, which maps to that region. Patients with KANSL1 intragenic mutations have been reported to display the major clinical features of 17q21.31 microdeletion syndrome. However, they did not exhibit the full clinical spectrum of this disorder, which might indicate that an additional gene or genes, located in ...

  1. [Involvement of distal fragment of chromosome 13 in the regulation of sensitivity to ethanol in mice].

    Science.gov (United States)

    Bazovkina, D V; Kulikov, A V

    2015-01-01

    The role of the fragment 57-65 cM of mouse chromosome 13 was studied in the regulation of ethanol action on locomotor activity, anxiety and sensitivity to hypnotic and hypothermic effects of ethanol. We used male mice of recombinant lines AKR/J and AKR.CBA-D13Mit76C, differing only in this fragment. After acute administration of ethanol only AKR mice showed the increase in the length of traveled distance in the open-field test (p mice demonstrated the increase the time spent in the center of open-field arena (p mice. The results suggest the involvement of the distal fragment 57-65 cM of chromosome 13 in the mechanisms of ethanol action in mice.

  2. Complex autism spectrum disorder in a patient with a 17q12 microduplication.

    Science.gov (United States)

    Brandt, Tracy; Desai, Khyati; Grodberg, David; Mehta, Lakshmi; Cohen, Ninette; Tryfon, Ana; Kolevzon, Alexander; Soorya, Latha; Buxbaum, Joseph D; Edelmann, Lisa

    2012-05-01

    Autism spectrum disorders (ASDs) are phenotypically complex developmental neuropsychiatric disorders affecting approximately 0.6% of the population. About 30-70% of affected children are also considered to have intellectual disability (ID). The underlying genetic causes of ASDs are diverse with a defined etiology in 16-20%. Array comparative genomic hybridization (aCGH) has proven useful in identifying sub-microscopic chromosome aberrations in a subset of patients, some of which have been shown to be recurrent. One such aberration is the 1.4 Mb microdeletion at chromosome 17q12, which has been reported to be associated with renal disease, growth restriction, diabetes, cognitive impairment, seizures, and in some cases an ASD. Patients with the reciprocal chromosome 17q12 microduplication typically have also been identified with ID and in some cases seizures and behavioral abnormalities. Here we report a patient with a de novo, 1.4 Mb microduplication diagnosed with significant ID involving complex deficits and autism. To our knowledge, this is the first report of a patient with the 17q12 microduplication and a complex ASD phenotype. Copyright © 2012 Wiley Periodicals, Inc.

  3. Clinical report of a 17q12 microdeletion with additionally unreported clinical features.

    Science.gov (United States)

    Roberts, Jennifer L; Gandomi, Stephanie K; Parra, Melissa; Lu, Ira; Gau, Chia-Ling; Dasouki, Majed; Butler, Merlin G

    2014-01-01

    Copy number variations involving the 17q12 region have been associated with developmental and speech delay, autism, aggression, self-injury, biting and hitting, oppositional defiance, inappropriate language, and auditory hallucinations. We present a tall-appearing 17-year-old boy with marfanoid habitus, hypermobile joints, mild scoliosis, pectus deformity, widely spaced nipples, pes cavus, autism spectrum disorder, intellectual disability, and psychiatric manifestations including physical and verbal aggression, obsessive-compulsive behaviors, and oppositional defiance. An echocardiogram showed borderline increased aortic root size. An abdominal ultrasound revealed a small pancreas, mild splenomegaly with a 1.3 cm accessory splenule, and normal kidneys and liver. A testing panel for Marfan, aneurysm, and related disorders was negative. Subsequently, a 400 K array-based comparative genomic hybridization (aCGH) + SNP analysis was performed which identified a de novo suspected pathogenic deletion on chromosome 17q12 encompassing 28 genes. Despite the limited number of cases described in the literature with 17q12 rearrangements, our proband's phenotypic features both overlap and expand on previously reported cases. Since syndrome-specific DNA sequencing studies failed to provide an explanation for this patient's unusual habitus, we postulate that this case represents an expansion of the 17q12 microdeletion phenotype. Further analysis of the deleted interval is recommended for new genotype-phenotype correlations.

  4. Clinical Report of a 17q12 Microdeletion with Additionally Unreported Clinical Features

    Directory of Open Access Journals (Sweden)

    Jennifer L. Roberts

    2014-01-01

    Full Text Available Copy number variations involving the 17q12 region have been associated with developmental and speech delay, autism, aggression, self-injury, biting and hitting, oppositional defiance, inappropriate language, and auditory hallucinations. We present a tall-appearing 17-year-old boy with marfanoid habitus, hypermobile joints, mild scoliosis, pectus deformity, widely spaced nipples, pes cavus, autism spectrum disorder, intellectual disability, and psychiatric manifestations including physical and verbal aggression, obsessive-compulsive behaviors, and oppositional defiance. An echocardiogram showed borderline increased aortic root size. An abdominal ultrasound revealed a small pancreas, mild splenomegaly with a 1.3 cm accessory splenule, and normal kidneys and liver. A testing panel for Marfan, aneurysm, and related disorders was negative. Subsequently, a 400 K array-based comparative genomic hybridization (aCGH + SNP analysis was performed which identified a de novo suspected pathogenic deletion on chromosome 17q12 encompassing 28 genes. Despite the limited number of cases described in the literature with 17q12 rearrangements, our proband’s phenotypic features both overlap and expand on previously reported cases. Since syndrome-specific DNA sequencing studies failed to provide an explanation for this patient’s unusual habitus, we postulate that this case represents an expansion of the 17q12 microdeletion phenotype. Further analysis of the deleted interval is recommended for new genotype-phenotype correlations.

  5. Complex Phenotype Associated with 17q21.31 Microdeletion

    Science.gov (United States)

    Dornelles-Wawruk, H.; Pic-Taylor, A.; Rosenberg, C.; Krepischi, A.C.V.; Safatle, H.P.N.; Ferrari, I.; Mazzeu, J.F.

    2013-01-01

    We report on a patient carrying a 17q21.31 microdeletion and exhibiting many common syndrome features, together with other clinical signs which have rarely or never been described to date. The detected 695-kb 17q21.31 deletion is larger than in most previously reported cases but is still probably the result of recombination between flanking low-copy repeats. Due to the complexity of the patient's clinical condition, together with the presence of 3 previously unreported symptoms, namely chronic anemia, cervical vertebrae arthrosis and vertebrae fusion, this case is an important addition to the existing knowledge about the 17q21.31 microdeletion syndrome. PMID:24167466

  6. Assignment of the Nance-Horan syndrome to the distal short arm of the X chromosome.

    Science.gov (United States)

    Zhu, D; Alcorn, D M; Antonarakis, S E; Levin, L S; Huang, P C; Mitchell, T N; Warren, A C; Maumenee, I H

    1990-11-01

    There are three types of X-linked cataracts recorded in Mendelian Inheritance in Man (McKusick 1988): congenital total, with posterior sutural opacities in heterozygotes; congenital, with microcornea or slight microphthalmia; and the cataract-dental syndrome or Nance-Horan (NH) syndrome. To identify a DNA marker close to the gene responsible for the NH syndrome, linkage analysis on 36 members in a three-generation pedigree including seven affected males and nine carrier females was performed using 31 DNA markers. A LOD score of 1.662 at theta = 0.16 was obtained with probe 782 from locus DXS85 on Xp22.2-p22.3. Negative LOD scores were found at six loci on the short arm, one distal to DXS85, five proximal, and six probes spanning the long arm were highly negative. These results make the assignment of the locus for NH to the distal end of the short arm of the X chromosome likely.

  7. Duodenal atresia in 17q12 microdeletion including HNF1B: a new associated malformation in this syndrome.

    Science.gov (United States)

    Quintero-Rivera, Fabiola; Woo, Jennifer S; Bomberg, Eric M; Wallace, W Dean; Peredo, Jane; Dipple, Katrina M

    2014-12-01

    Deletions of chromosome 17q12 [OMIM 614527] encompass a wide range of phenotypes, including renal cysts, diabetes mellitus, pancreatic structural abnormalities, genital tract anomalies, developmental delay, learning difficulties, and more recently, autism spectrum disorder and schizophrenia. To date, gastrointestinal malformations have not been fully characterized in this syndrome. In this case report, we describe a four-year-old girl with a 17q12 microdeletion who was born with duodenal atresia, bilateral renal cysts, left kidney dysplasia, a midline cystic structure at the conus medullaris, and dysmorphic features. Both the patient and her affected father were found to have a deletion of 17q12, which encompasses the HNF1B (hepatocyte nuclear factor beta). It is hypothesized that HNF1B may play a role in intestinal differentiation and development. Our clinical report further expands the pre-and post-natal presentation of this rare microdeletion syndrome. © 2014 Wiley Periodicals, Inc.

  8. Prenatal diagnosis of 17q12 deletion syndrome: from fetal hyperechogenic kidneys to high risk for autism.

    Science.gov (United States)

    Gilboa, Yinon; Perlman, Sharon; Pode-Shakked, Naomi; Pode-Shakked, Ben; Shrim, Alon; Azaria-Lahav, Einat; Dekel, Benjamin; Yonath, Hagith; Berkenstadt, Michal; Achiron, Reuven

    2016-11-01

    The linkage between 17q12 microdeletions, renal anomalies, and higher risk for neurodevelopmental disorders is well described in the literature. The current study presents prenatal diagnosis of normal-sized fetal hyperechogenic kidneys leading to the diagnosis of 17q12 deletion syndrome and autism spectrum disorder. Over a period of 9 years in a single referral center, seven fetuses were diagnosed with hyperechogenic renal parenchyma and were followed up prospectively. Amniocentesis for molecular diagnosis was performed in all cases, and subsequently, five fetuses were found to harbor a 17q12 deletion by chromosomal microarray analysis. Postnatal evaluation was carried out by a developmental neurologist. Five of the seven fetuses had molecular diagnosis of 17q12 deletion. One patient elected termination of pregnancy. On long-term follow-up, all of the four children showed symptoms consistent with neurodevelopmental disorders. The two fetuses with no deletion have a normal follow-up with regression of the renal hyperechogenicity. We report a strikingly high correlation between prenatal hyperechogenic kidneys, 17q12 microdeletion, and autism spectrum disorder with the advantage of optimal prenatal counseling as well as early diagnosis and intervention. © 2016 John Wiley & Sons, Ltd. © 2016 John Wiley & Sons, Ltd.

  9. Establishment of a molecular genetic map of distal mouse chromosome 1: further definition of a conserved linkage group syntenic with human chromosome 1q.

    Science.gov (United States)

    Seldin, M F; Morse, H C; LeBoeuf, R C; Steinberg, A D

    1988-01-01

    A linkage map of distal mouse chromosome 1 was constructed by restriction fragment length polymorphism analysis of DNAs from seven sets of recombinant inbred (RI) strains. The data obtained with seven probes on Southern hybridization combined with data from previous studies suggest the gene order Cfh, Pep-3/Ren-1,2, Ly-5, Lamb-2, At-3, Apoa-2/Ly-17,Spna-1. These results confirm and extend analyses of a large linkage group which includes genes present on a 20-30 cM span of mouse chromosome 1 and those localized to human chromosome 1q21-32. Moreover, the data indicate similar relative positions of human and mouse complement receptor-related genes REN, CD45, LAMB2, AT3, APOA2, and SPTA. These results suggest that mouse gene analyses may help in detailed mapping of human genes within such a syntenic group.

  10. A complex microdeletion 17q12 phenotype in a patient with recurrent de novo membranous nephropathy

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    Hinkes Bernward

    2012-05-01

    Full Text Available Abstract Background Microdeletions on chromosome 17q12 cause of diverse spectrum of disorders and have only recently been identified as a rare cause of Mayer-Rokitansky-Kuester-Hauser-Syndrome (MRKH, which is characterized by uterus aplasia ± partial/complete vaginal aplasia in females with a regular karyotype. For the first time we report about a patient with a 17q12 microdeletion who is affected by MRKH in combination with a vascular and soft tissue disorder. Repeatedly she suffered from kidney transplant failure caused by consuming membranous nephropathy. Case presentation A 38-year-old female patient had been diagnosed with right kidney aplasia, left kidney dysplasia and significantly impaired renal function during infancy. Aged 16 she had to start hemodialysis. Three years later she received her first kidney transplant. Only then she was diagnosed with MRKH. The kidney transplant was lost due to consuming nephrotic syndrome caused by de novo membranous nephropathy, as was a second kidney transplant years later. In addition, a hyperelasticity syndrome affects the patient with congenital joint laxity, kyphoscoliosis, bilateral hip dysplasia, persistent hypermobility of both elbows, knees and hips. Her clinical picture resembles a combination of traits of a hypermobile and a vascular form of Ehlers-Danlos-Syndrome, but no mutations in the COL3A1 gene was underlying. Instead, array-based comparative genomic hybridisation (CGH detected a heterozygous 1.43 Mb deletion on chromosome 17q12 encompassing the two renal developmental genes HNF1β and LHX1. Conclusions Deletions of HNF1β have recently drawn significant attention in pediatric nephrology as an important cause of prenatally hyperechogenic kidneys, renal aplasia and renal hypodysplasia. In contrast, membranous nephropathy represents an often-unaccounted cause of nephrotic syndrome in the adult population. A causative connection between theses two conditions has never been postulated, but

  11. A complex microdeletion 17q12 phenotype in a patient with recurrent de novo membranous nephropathy.

    Science.gov (United States)

    Hinkes, Bernward; Hilgers, Karl F; Bolz, Hanno J; Goppelt-Struebe, Margarete; Amann, Kerstin; Nagl, Sandra; Bergmann, Carsten; Rascher, Wolfgang; Eckardt, Kai-Uwe; Jacobi, Johannes

    2012-05-14

    Microdeletions on chromosome 17q12 cause of diverse spectrum of disorders and have only recently been identified as a rare cause of Mayer-Rokitansky-Kuester-Hauser-Syndrome (MRKH), which is characterized by uterus aplasia ± partial/complete vaginal aplasia in females with a regular karyotype. For the first time we report about a patient with a 17q12 microdeletion who is affected by MRKH in combination with a vascular and soft tissue disorder. Repeatedly she suffered from kidney transplant failure caused by consuming membranous nephropathy. A 38-year-old female patient had been diagnosed with right kidney aplasia, left kidney dysplasia and significantly impaired renal function during infancy. Aged 16 she had to start hemodialysis. Three years later she received her first kidney transplant. Only then she was diagnosed with MRKH. The kidney transplant was lost due to consuming nephrotic syndrome caused by de novo membranous nephropathy, as was a second kidney transplant years later. In addition, a hyperelasticity syndrome affects the patient with congenital joint laxity, kyphoscoliosis, bilateral hip dysplasia, persistent hypermobility of both elbows, knees and hips. Her clinical picture resembles a combination of traits of a hypermobile and a vascular form of Ehlers-Danlos-Syndrome, but no mutations in the COL3A1 gene was underlying. Instead, array-based comparative genomic hybridisation (CGH) detected a heterozygous 1.43 Mb deletion on chromosome 17q12 encompassing the two renal developmental genes HNF1β and LHX1. Deletions of HNF1β have recently drawn significant attention in pediatric nephrology as an important cause of prenatally hyperechogenic kidneys, renal aplasia and renal hypodysplasia. In contrast, membranous nephropathy represents an often-unaccounted cause of nephrotic syndrome in the adult population. A causative connection between theses two conditions has never been postulated, but is suggestive enough in this case to hypothesize it.

  12. Prenatal Diagnosis of a 2.5 Mb De Novo 17q24.1q24.2 Deletion Encompassing KPNA2 and PSMD12 Genes in a Fetus with Craniofacial Dysmorphism, Equinovarus Feet, and Syndactyly

    Directory of Open Access Journals (Sweden)

    Marie-Emmanuelle Naud

    2017-01-01

    Full Text Available Interstitial 17q24.1 or 17q24.2 deletions were reported after conventional cytogenetic analysis or chromosomal microarray analysis in patients presenting intellectual disability, facial dysmorphism, and/or malformations. We report on a fetus with craniofacial dysmorphism, talipes equinovarus, and syndactyly associated with a de novo 2.5 Mb 17q24.1q24.2 deletion. Among the deleted genes, KPNA2 and PSMD12 are discussed for the correlation with the fetal phenotype. This is the first case of prenatal diagnosis of 17q24.1q24.2 deletion.

  13. Common inversion polymorphism at 17q21.31 affects expression of multiple genes in tissue-specific manner.

    Science.gov (United States)

    de Jong, Simone; Chepelev, Iouri; Janson, Esther; Strengman, Eric; van den Berg, Leonard H; Veldink, Jan H; Ophoff, Roel A

    2012-09-06

    Chromosome 17q21.31 contains a common inversion polymorphism of approximately 900 kb in populations with European ancestry. Two divergent MAPT haplotypes, H1 and H2 are described with distinct linkage disequilibrium patterns across the region reflecting the inversion status at this locus. The MAPT H1 haplotype has been associated with progressive supranuclear palsy, corticobasal degeneration, Parkinson's disease and Alzheimer's disease, while the H2 is linked to recurrent deletion events associated with the 17q21.31 microdeletion syndrome, a disease characterized by developmental delay and learning disability. In this study, we investigate the effect of the inversion on the expression of genes in the 17q21.31 region. We find the expression of several genes in and at the borders of the inversion to be affected; specific either to whole blood or different regions of the human brain. The H1 haplotype was found to be associated with an increased expression of LRRC37A4, PLEKH1M and MAPT. In contrast, a decreased expression of MGC57346, LRRC37A and CRHR1 was associated with H1. Studies thus far have focused on the expression of MAPT in the inversion region. However, our results show that the inversion status affects expression of other genes in the 17q21.31 region as well. Given the link between the inversion status and different neurological diseases, these genes may also be involved in disease pathology, possibly in a tissue-specific manner.

  14. 17q12 Deletion in a patient with Williams syndrome: Case report and review of the literature.

    Science.gov (United States)

    Cohen, Lilian; Samanich, Joy; Pan, Quilu; Mehta, Lakshmi; Marion, Robert

    2012-06-01

    Williams syndrome (WS) is a complex genomic disorder entailing distinctive facial dysmorphism, cardiovascular abnormalities, intellectual disabilities, unusual behavioral features, and a specific cognitive profile with considerable variability. Additional symptoms include endocrine abnormalities, renal anomalies and connective tissue disorders. We report a monozygotic twin patient with WS who presented with multicystic kidneys in the newborn period, and, in addition to the typical WS deletion at 7q11.23, was found to have a de novo 1.7 Mb deletion in the 17q12 region on microarray comparative genomic hybridization. The co-twin was selectively terminated at 23 wk of gestation after being diagnosed with bilateral multicystic dysplastic kidneys and anhydramnios. Review of the literature shows that deletion of chromosome 17q12, encompassing hepatocyte nuclear factor 1beta gene, is associated with cystic renal disease and is the first recurrent genomic deletion associated with maturity onset diabetes of the young. In addition, reports of female reproductive tract malformations and patients with neurocognitive or psychiatric phenotypes have recently been described. This review of the literature summarizes 47 other cases involving 17q12 deletions with wide variability in phenotype, possibly suggesting a contiguous gene syndrome. It is likely that the additional 17q12 deletion has played a role in modifying the phenotype in our patient. This case highlights the importance of using array comparative genomic hybridization in the clinical setting to uncover the etiology of atypical findings in individuals with known microdeletion syndromes.

  15. Tissue-specific expression of the human laminin alpha5-chain, and mapping of the gene to human chromosome 20q13.2-13.3 and to distal mouse chromosome 2 near the locus for the ragged (Ra) mutation

    DEFF Research Database (Denmark)

    Durkin, M E; Loechel, F; Mattei, M G

    1997-01-01

    , heart, lung, skeletal muscle, kidney, and pancreas. The human laminin alpha5-chain gene (LAMA5) was assigned to chromosome 20q13.2-q13.3 by in situ hybridization, and the mouse gene (Lama5) was mapped by linkage analysis to a syntonic region of distal chromosome 2, close to the locus for the ragged (Ra...

  16. Rheumatoid arthritis in an adult patient with mosaic distal 18q-, 18p- and ring chromosome 18 [version 2; referees: 2 approved

    Directory of Open Access Journals (Sweden)

    Alanna Chau

    2018-02-01

    Full Text Available Ring chromosome 18 has a highly variable phenotype, depending on the extent of distal arm deletions. It is most commonly presented as a combination of 18p- and distal 18q- syndrome. IgA deficiency and autoimmune diseases have been previously described in these patients. Seven cases of juvenile rheumatoid arthritis (JRA have been reported. Here we report the first case of late onset rheumatoid arthritis (RA in a 32 year old Dominican woman with hypothyroidism, vitiligo, IgA deficiency, interstitial lung disease (ILD, cystic bronchiectasis, and features consistent with ringed 18, 18p- and distal 18q syndrome.  The multiple autoimmune findings in our patient lends further support to the idea of loci on chromosome 18 playing a role in autoimmune disease expression. Late onset RA and ILD in a patient with chromosome 18 abnormalities are novel findings and are additional conditions to be aware of in this population.

  17. A Turner Syndrome Patient Carrying a Mosaic Distal X Chromosome Marker

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    Roberto L. P. Mazzaschi

    2014-01-01

    Full Text Available A skin sample from a 17-year-old female was received for routine karyotyping with a set of clinical features including clonic seizures, cardiomyopathy, hepatic adenomas, and skeletal dysplasia. Conventional karyotyping revealed a mosaic Turner syndrome karyotype with a cell line containing a small marker of X chromosome origin. This was later confirmed on peripheral blood cultures by conventional G-banding, fluorescence in situ hybridisation and microarray analysis. Similar Turner mosaic marker chromosome cases have been previously reported in the literature, with a variable phenotype ranging from the mild “classic” Turner syndrome to anencephaly, agenesis of the corpus callosum, complex heart malformation, and syndactyly of the fingers and toes. This case report has a phenotype that is largely discordant with previously published cases as it lies at the severe end of the Turner variant phenotype scale. The observed cytogenetic abnormalities in this study may represent a coincidental finding, but we cannot exclude the possibility that the marker has a nonfunctioning X chromosome inactivation locus, leading to functional disomy of those genes carried by the marker.

  18. Recurrent microdeletion at 17q12 as a cause of Mayer-Rokitansky-Kuster-Hauser (MRKH syndrome: two case reports

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    Novelli Antonio

    2009-11-01

    Full Text Available Abstract Background Mayer-Rokitansky-Kuster-Hauser syndrome (MRKH consists of congenital aplasia of the uterus and the upper part of vagina due to anomalous development of Müllerian ducts, either isolated or associated with other congenital malformations, including renal, skeletal, hearing and heart defects. This disorder has an incidence of approximately 1 in 4500 newborn girls and the aetiology is poorly understood. Methods and Results we report on two patients affected by MRKH syndrome in which array-CGH analysis disclosed an identical deletion spanning 1.5 Mb of genomic DNA at chromosome 17q12. One patient was affected by complete absence of uterus and vagina, with bilaterally normal ovaries, while the other displayed agenesis of the upper part of vagina, right unicornuate uterus, non cavitating rudimentary left horn and bilaterally multicystic kidneys. The deletion encompassed two candidate genes, TCF2 and LHX1. Mutational screening of these genes in a selected group of 20 MRKH females without 17q12 deletion was negative. Conclusion Deletion 17q12 is a rare albeit recurrent anomaly mediated by segmental duplications, previously reported in subjects with developmental kidney abnormalities and diabetes. The present two patients expand the clinical spectrum associated with this imbalance and suggest that this region is a candidate locus for a subset of MRKH syndrome individuals, with or without renal defects.

  19. Recurrent microdeletion at 17q12 as a cause of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome: two case reports.

    Science.gov (United States)

    Bernardini, Laura; Gimelli, Stefania; Gervasini, Cristina; Carella, Massimo; Baban, Anwar; Frontino, Giada; Barbano, Giancarlo; Divizia, Maria Teresa; Fedele, Luigi; Novelli, Antonio; Béna, Frédérique; Lalatta, Faustina; Miozzo, Monica; Dallapiccola, Bruno

    2009-11-04

    Mayer-Rokitansky-Kuster-Hauser syndrome (MRKH) consists of congenital aplasia of the uterus and the upper part of vagina due to anomalous development of Müllerian ducts, either isolated or associated with other congenital malformations, including renal, skeletal, hearing and heart defects. This disorder has an incidence of approximately 1 in 4500 newborn girls and the aetiology is poorly understood. we report on two patients affected by MRKH syndrome in which array-CGH analysis disclosed an identical deletion spanning 1.5 Mb of genomic DNA at chromosome 17q12. One patient was affected by complete absence of uterus and vagina, with bilaterally normal ovaries, while the other displayed agenesis of the upper part of vagina, right unicornuate uterus, non cavitating rudimentary left horn and bilaterally multicystic kidneys. The deletion encompassed two candidate genes, TCF2 and LHX1. Mutational screening of these genes in a selected group of 20 MRKH females without 17q12 deletion was negative. Deletion 17q12 is a rare albeit recurrent anomaly mediated by segmental duplications, previously reported in subjects with developmental kidney abnormalities and diabetes. The present two patients expand the clinical spectrum associated with this imbalance and suggest that this region is a candidate locus for a subset of MRKH syndrome individuals, with or without renal defects.

  20. Apparently balanced t(1;7)(q21.3;q34) in an infant with Coffin-Siris syndrome.

    Science.gov (United States)

    McPherson, E W; Laneri, G; Clemens, M M; Kochmar, S J; Surti, U

    1997-09-05

    Coffin-Siris syndrome is a multiple anomaly/mental retardation syndrome characterized by "coarse" facial appearance, hypoplastic or absent nails on the fifth digits, generalized hirsutism with sparse scalp hair, hypotonia, and developmental delay. Due to several reports of affected sibs with or without a mildly affected parent, both autosomal recessive and autosomal dominant inheritance have been suggested. All previous patients with well-documented Coffin-Siris syndrome are chromosomally normal, and the gene has not been mapped. We report on an infant with typical findings of Coffin-Siris syndrome who also has a de novo apparently balanced translocation of chromosomes 1 and 7, karyotype 46,XY,t(1;7)(q21.3;q34). The parental chromosomes are normal and none of the relatives have signs of Coffin-Siris syndrome. The breakpoints 1q21.3 and 7q34 are suggested as possible locations for a Coffin-Siris gene.

  1. MURCS Association with Partial Duplication of the Distal Long Chromosome 5 and Unilateral Ovarian Agenesis

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    Anna Dabkowska-Huc

    2013-01-01

    Full Text Available A combination of the congenital abnormalities, Müllerian duct aplasia, renal aplasia, and cervicothoracic somite dysplasia, is defined as the MURCS association. Various genetic defects have been described in the MURCS association so far, yet the unambiguous molecular basis of these disorders has not been established. We report the case of an 18-year-old woman who presented with primary amenorrhea, right kidney, Arnold-Chiari malformation, and Klippel-Feil syndrome. In addition, the patient showed the following unusual features: right ovarian and Skenes gland agenesis, cubitus valgus with hyperextension and decreased range of motion at elbows, and facial changes. Moreover, the performed DNA analysis showed interstitial duplication in chromosome 5 (5q35.1. In the duplicated region, there are genes whose function is not well known. It is thought that they have an influence on the early stages of development and their joining in the later period can lead to neoplastic disorders, especially leukemias.

  2. Clinical and molecular description of a 17q21.33 microduplication in a girl with severe kyphoscoliosis and developmental delay.

    Science.gov (United States)

    Kemeny, Stéphan; Pebrel-Richard, Céline; Eymard-Pierre, Eléonore; Gay-Bellile, Mathilde; Gouas, Laetitia; Goumy, Carole; Tchirkov, Andreï; Francannet, Christine; Vago, Philippe

    2014-10-01

    High proportion of disease-associated copy number variant maps to chromosome 17. Genomic studies have provided an insight into its complex genomic structure such as relative abundance of segmental duplication and intercepted repetitive elements. 17q21.31, 17q11.2 and 17q12 loci are well known on this chromosome and are associated with microdeletion and microduplication syndrome. No syndrome associated with 17q21.33 locus have been described. We report clinical, cytogenetic and molecular investigations of a 13 years-old girl admitted for evaluation of microcephaly, scoliosis, skeletal defects and learning difficulties. We carried out detailed analysis of the clinical phenotype of this patient and investigated the genetic basis using Agilent 180K Array Comparative Genomic Hybridization. We identified a ∼0.9 Mb de novo microduplication on chromosome 17q21.33. Four genes, COL1A1, SGCA, PPP1R9B and CHAD located within the duplicated region are possible candidates for clinical features present in our patients. Gene expression studies by real-time RT-PCR assay only showed an overexpression of SGCA (P < 0.01), a component of the dystrophin glycoprotein complex. Defect of SGCA was previously shown to lead to severe childhood autosomal recessive muscular dystrophy (LGMD2D) which result in progressive muscle weakness and can also be associated with hyperlordosis or scoliosis. Further cases with similar duplications are expected to be diagnosed. This will contribute to the delineation of this potential new microduplication syndrome and to improve genetic counseling. Copyright © 2014 Elsevier Masson SAS. All rights reserved.

  3. Chromosome

    Science.gov (United States)

    ... St Louis, MO: Elsevier; 2017:chap 69. Taber's Medical Dictionary Online. Chromosome. www.tabers.com/tabersonline/view/Tabers-Dictionary/753321/all/chromosome?q=Chromosome&ti=0 . Accessed June 11, 2017.

  4. Prenatal diagnosis of familial transmission of 17q12 microduplication associated with no apparent phenotypic abnormality

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    Chih-Ping Chen

    2016-12-01

    Conclusion: The 17q12 microduplication may present with variable phenotypes including no apparent phenotypic abnormality in familial cases. However, neuropsychiatry assessment and monitoring should be warranted in childhood and through adulthood under such a circumstance.

  5. 17q21 gene variation is not associated with asthma in adulthood

    DEFF Research Database (Denmark)

    Kreiner-Møller, E.; Strachan, D P; Linneberg, A

    2015-01-01

    BACKGROUND: 17q21 gene variants are the strongest known genetic determinants for childhood asthma and have been reported to interact with environmental tobacco smoke exposure in childhood. It remains unclear whether individuals with 17q21 risk variants have increased risk of asthma or reduced lung....... This contrasts the findings in children and suggests that this locus is associated with a childhood-specific asthma endotype....... function in adulthood. The aim was to examine the association between the 17q21 region and current adult asthma and lung function, and interaction with active smoking. METHODS: We investigated the single nucleotide polymorphism rs7216389 at the 17q21 locus in 3471 adults from the Health2006 cross...

  6. Social cognition and the behavioural phenotype of 17q21.31 microdeletion syndrome

    NARCIS (Netherlands)

    Egger, J.I.M.; Wingbermühle, P.A.M.; Verhoeven, W.M.A.; Dijkman, M.W.; Kessels, R.P.C.; Koolen, D.A.

    2012-01-01

    Introduction Recently, the 17q21.31 microdeletion syndrome was described with characteristic features including developmental delay, moderate intellectual disability, facial dysmorphisms, and anomalies of the brain and multiple organ systems. With respect to behaviour, scarce data from clinical

  7. Complex distal 10q rearrangement in a girl with mild intellectual disability: follow up of the patient and review of the literature of non-acrocentric satellited chromosomes.

    Science.gov (United States)

    Sarri, Catherine; Douzgou, Sofia; Gyftodimou, Yolanda; Tümer, Zeynep; Ravn, Kirstine; Pasparaki, Angela; Sarafidou, Theologia; Kontos, Harry; Kokotas, Haris; Karadima, Georgia; Grigoriadou, Maria; Pandelia, Effie; Theodorou, Virginia; Moschonas, Nicholas K; Petersen, Michael B

    2011-11-01

    We report on an intellectually disabled girl with a de novo satellited chromosome 10 (10qs) and performed a review of the literature of the non-acrocentric satellited chromosomes (NASC). Satellites and stalks normally occur on the short arms of acrocentric chromosomes; however, the literature cites several reports of satellited non-acrocentric chromosomes, which presumably result from a translocation with an acrocentric chromosome. This is, to our knowledge, the third report of a 10qs chromosome. The phenotype observed in the proband prompted a search for a structural rearrangement of chromosome 10q. By microsatellite analysis we observed a 4 Mb deletion on the long arm of chromosome 10, approximately 145 kb from the telomere. FISH and array CGH analyses revealed a complex rearrangement involving in range from the centromere to the telomere: A 9.64 Mb 10q26.11-q26.2 duplication, a 1.3 Mb region with no copy number change, followed by a 5.62 Mb 10q26.2-q26.3 deletion and a translocation of satellite material. The homology between the repeat sequences at 10q subtelomere region and the sequences on the acrocentric short arms may explain the origin of the rearrangement and it is likely that the submicroscopic microdeletion and microduplication are responsible for the abnormal phenotype in our patient. The patient presented here, with a 15-year follow-up, manifests a distinct phenotype different from the 10q26 pure distal monosomy and trisomy syndromes. Copyright © 2011 Wiley Periodicals, Inc.

  8. Recurrent Transmission of a 17q12 Microdeletion and a Variable Clinical Spectrum.

    Science.gov (United States)

    George, A M; Love, D R; Hayes, I; Tsang, B

    2012-01-01

    The relatively rare proximal microdeletion of 17q12 (including deletion of the HNF1B gene) is associated with the renal cysts and diabetes syndrome. Recent reports have suggested that there may also be an association between this microdeletion and learning difficulties/autism. This case report describes one of only a few reported families segregating the 17q12 microdeletion, but which highlights the nonpenetrance and variable expressivity of multiple features of this condition.

  9. Recurrent Transmission of a 17q12 Microdeletion and a Variable Clinical Spectrum

    OpenAIRE

    George, A.M.; Love, D.R.; Hayes, I.; Tsang, B.

    2011-01-01

    The relatively rare proximal microdeletion of 17q12 (including deletion of the HNF1B gene) is associated with the renal cysts and diabetes syndrome. Recent reports have suggested that there may also be an association between this microdeletion and learning difficulties/autism. This case report describes one of only a few reported families segregating the 17q12 microdeletion, but which highlights the nonpenetrance and variable expressivity of multiple features of this condition.

  10. Prenatally diagnosed 17q12 microdeletion syndrome with a novel association with congenital diaphragmatic hernia.

    Science.gov (United States)

    Hendrix, Nancy W; Clemens, Michele; Canavan, Timothy P; Surti, Urvashi; Rajkovic, Aleksandar

    2012-01-01

    We describe the first reported case of a prenatally diagnosed and recently described 17q12 microdeletion syndrome. The fetus was noted to have a congenital diaphragmatic hernia (CDH), echogenic kidneys and cystic left lung on prenatal ultrasound. The patient underwent amniocentesis which resulted in a normal fluorescence in-situ hybridization and karyotype. An oligonucleotide microarray was then performed which demonstrated a 1.4-Mb deletion within the 17q12 region. The deletion caused haploinsufficiency for 17 genes, including AATF, ACACA, DDX52, DUSP14, GGNBP2, HNF-1B, LHX1, PIGW, SYNRG, TADA2A, and ZNHIT3. The deleted region on 17q12 is similar in size and gene content to previously reported 17q12 microdeletion syndromes, which have a minimal critical region of 1.52 Mb. The newly described 17q12 microdeletion syndrome has been associated with MODY5 (maturity-onset of diabetes of the young type 5), cystic renal disease, pancreatic atrophy, liver abnormalities, cognitive impairment and structural brain abnormalities. CDH has not been previously described with the 17q12 microdeletion syndrome. We hypothesize that CDH is part of the spectrum of this syndrome and likely not detected postnatally due to high prenatal mortality. Copyright © 2011 S. Karger AG, Basel.

  11. A molecular deletion of distal chromosome 4p in two families with a satellited chromosome 4 lacking the Wolf-Hirschhorn syndrome phenotype.

    Science.gov (United States)

    Estabrooks, L L; Lamb, A N; Kirkman, H N; Callanan, N P; Rao, K W

    1992-11-01

    We report two families with a satellited chromosome 4 short arm (4ps). Satellites and stalks normally occur on the short arms of acrocentric chromosomes; however, the literature cites several reports of satellited nonacrocentric chromosomes, which presumably result from a translocation with an acrocentric chromosome. This is the first report of 4ps chromosomes. Our families are remarkable in that both unaffected and affected individuals carry the 4ps chromosome. The phenotypes observed in affected individuals, although dissimilar, were sufficient to encourage a search for a deletion of chromosome 4p. By Southern blot analysis and fluorescence in situ hybridization, a deletion of material mapping approximately 150 kb from chromosome 4pter was discovered. This deletion is notable because it does not result in the Wolf-Hirschhorn syndrome and can result in an apparently normal phenotype. We speculate that homology between subterminal repeat sequences on 4p and sequences on the acrocentric short arms may explain the origin of the rearrangement and that position effect may play a role in the expression of the abnormal phenotype.

  12. Physical mapping of a large plant genome using global high-information-content-fingerprinting: the distal region of the wheat ancestor Aegilops tauschii chromosome 3DS

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    You Frank M

    2010-06-01

    Full Text Available Abstract Background Physical maps employing libraries of bacterial artificial chromosome (BAC clones are essential for comparative genomics and sequencing of large and repetitive genomes such as those of the hexaploid bread wheat. The diploid ancestor of the D-genome of hexaploid wheat (Triticum aestivum, Aegilops tauschii, is used as a resource for wheat genomics. The barley diploid genome also provides a good model for the Triticeae and T. aestivum since it is only slightly larger than the ancestor wheat D genome. Gene co-linearity between the grasses can be exploited by extrapolating from rice and Brachypodium distachyon to Ae. tauschii or barley, and then to wheat. Results We report the use of Ae. tauschii for the construction of the physical map of a large distal region of chromosome arm 3DS. A physical map of 25.4 Mb was constructed by anchoring BAC clones of Ae. tauschii with 85 EST on the Ae. tauschii and barley genetic maps. The 24 contigs were aligned to the rice and B. distachyon genomic sequences and a high density SNP genetic map of barley. As expected, the mapped region is highly collinear to the orthologous chromosome 1 in rice, chromosome 2 in B. distachyon and chromosome 3H in barley. However, the chromosome scale of the comparative maps presented provides new insights into grass genome organization. The disruptions of the Ae. tauschii-rice and Ae. tauschii-Brachypodium syntenies were identical. We observed chromosomal rearrangements between Ae. tauschii and barley. The comparison of Ae. tauschii physical and genetic maps showed that the recombination rate across the region dropped from 2.19 cM/Mb in the distal region to 0.09 cM/Mb in the proximal region. The size of the gaps between contigs was evaluated by comparing the recombination rate along the map with the local recombination rates calculated on single contigs. Conclusions The physical map reported here is the first physical map using fingerprinting of a complete

  13. Chromosome breakage in Prader-Willi and Angelman syndrome deletions may involve recombination between a repeat at the proximal and distal breakpoints

    Energy Technology Data Exchange (ETDEWEB)

    Amos-Landgraf J.; Nicholls, R.D. [Case Western Reserve Univ., Cleveland, OH (United States); Gottlieb, W. [Univ. of Florida, Gainesville, FL (United States)] [and others

    1994-09-01

    Prader-Willi (PWS) and Angelman (AS) syndromes most commonly arise from large deletions of 15q11-q13. Deletions in PWS are paternal in origin, while those in AS are maternal in origin, clearly demonstrating genomic imprinting in these clinically distinct neurobehavioural disorders. In at least 90% of PWS and AS deletion patients, the same 4 Mb region within 15q11-q13 is deleted with breakpoints clustering in single YAC clones at the proximal and distal ends. To study the mechanism of chromosome breakage in PWS and AS, we have previously isolated 25 independent clones from these three YACs using Alu-vector PCR. Four clones were selected that appear to detect a low copy repeat that is located in the proximal and distal breakpoint regions of chromosome 15q11-q13. Three clones detect the same 4 HindIII bands in genomic DNA, all from 15q11-q13, with differing intensities for the probes located at the proximal or distal breakpoints region, respectively. This suggests that these probes detect related members of a low-copy repeat at either location. Moreover, the 254RL2 probe detects a novel HindIII band in two unrelated PWS deletion patients, suggesting that this may represent a breakpoint fragment, with recombination occurring within a similar interval in both patients. A fourth clone, 318RL3 detects 5 bands in HindIII-digested genomic DNA, all from 15q11-q13. This YAC endclone itself is not deleted in PWS and AS deletion patients, as seen by an invariant strong band. Two other strong bands are variably intact or deleted in different PWS or AS deletion patients, suggesting a relationship of this sequence to the breakpoints. Moreover, PCR using 318RL3 primers from the distal 93C9 YAC led to the isolation of a related clone with 96% identity, demonstrating the existence of a low-copy repeat with members close to the proximal and distal breakpoints. Taken together, our data suggest a complex, low-copy repeat with members at both the proximal and distal boundaries.

  14. Congenital diaphragmatic hernia may be associated with 17q12 microdeletion syndrome.

    Science.gov (United States)

    Goumy, Carole; Laffargue, Fanny; Eymard-Pierre, Eléonore; Kemeny, Stéphen; Gay-Bellile, Mathilde; Gouas, Laetiti; Gallot, Denis; Francannet, Christine; Tchirkov, Andrei; Pebrel-Richard, Céline; Vago, Philippe

    2015-01-01

    Microdeletions of 17q12 encompassing TCF2 are associated with maturity-onset of diabetes of the young type 5, cystic renal disease, pancreatic atrophy, Mullerian aplasia in females and variable cognitive impairment. We report on a patient with a de novo 17q12 microdeletion, 1.8 Mb in size, associated with congenital diaphragmatic hernia (CDH). The 5-year-old male patient presented multicystic renal dysplasia kidneys, minor facial dysmorphic features and skeletal anomalies, but neither developmental delay nor behavioral abnormalities. CDH has been previously associated with the 17q12 microdeletion syndrome only in one prenatal case. The present study reinforces the hypothesis that CDH is part of the phenotype for 17q12 microdeletion and that 17q12 encompasses candidate(s) gene(s) involved in diaphragm development. We suggest that PIGW, a gene involved in an early step of GPI biosynthesis, could be a strong candidate gene for CDH. © 2014 Wiley Periodicals, Inc.

  15. No significant effect of monosomy for distal 21q22. 3 on the Down syndrom phenotype in mirror' duplications of chromosome 21

    Energy Technology Data Exchange (ETDEWEB)

    Pangalos, C.; Prieur, M.; Rethore, M.O.; Lejeune, J. (Institut de Progenese, Paris (France)); Theophile, D.; Sinet, P.M.; Chettouh, Z.; Delabar, J.M. (Hopital Necker Enfants Malades, Paris (France)); Marks, A. (Univ. of Toronto, Ontario (Canada)); Stamboulieh-Abazis, D. (Diagnostic Genetic Center, Athens (Greece)); Verellen, C. (Centre de Genetique Humaine, Brussels (Belgium))

    1992-12-01

    Three Down syndrome patients for whom karyotypic analysis showed a mirror' (reverse tandem) duplication of chromosome 21 were studied by phenotypic, cytogenetic, and molecular methods. On high-resolution R-banding analysis performed in two cases, the size of the fusion 21q22.3 band was apparently less than twice the size of the normal 21q22.3, suggesting a partial deletion of distal 21q. The evaluation of eight chromosome 21 single-copy sequences of the 21q22 region - namely, SOD1, D21S15, D21S42, CRYA1, PFKL, CD18, COL6A1, and S100B - by a slot blot method showed in all three cases a partial deletion of 21q22.3 and partial monosomy. The translocation breakpoints were different in each patient, and in two cases the rearranged chromosome was found to be asymmetrical. The molecular definition of the monosomy 21 in each patient was, respectively, COL6A1-S100B, CD18-S100B, and PFKL-S100B. DNA polymorphism analysis indicated in all cases a homozygosity of the duplicated material. The duplicated region was maternal in two patients and paternal in one patient. These data suggest that the reverse tandem chromosomes did not result from a telomeric fusion between chromosomes 21 but from a translocation between sister chromatids. The phenotypes of these patients did not differ significantly from that of individuals with full trisomy 21, except in one case with large ears with an unfolded helix. The fact that monosomy of distal 21q22.3 in these patients resulted in a phenotype very similar to Down syndrome suggests that the duplication of the genes located in this part of chromosome 21 is not necessary for the pathogenesis of the Down syndrome features observed in these patients, including most of the facial and hand features, muscular hypotonia, cardiopathy of the Fallot tetralogy type, and part of the mental retardation. 54 refs., 5 figs., 3 tabs.

  16. 17q21.31 microdeletion syndrome: Description of a case further contributing to the delineation of Koolen-de Vries syndrome.

    Science.gov (United States)

    Bernardo, Pia; Madia, Francesca; Santulli, Lia; Del Gaudio, Luigi; Caccavale, Carmela; Zara, Federico; Traverso, Monica; Cirillo, Mario; Striano, Salvatore; Coppola, Antonietta

    2016-08-01

    The widespread use of Array Comparative Genomic Hybridization (aCGH) technology has enabled the identification of several syndromes associated with copy number variants (CNVs) including the 17q21.31 microdeletion. The 17q21.31 microdeletion syndrome, also known as Koolen-de Vries syndrome, was first described in 2006 in individuals with intellectual disabilities and organ abnormalities. We report the clinical, instrumental, cytogenetic and molecular investigations of a boy admitted for epilepsy and intellectual disabilities. We carried out detailed analysis of the clinical phenotype of this patient and investigated the genetic basis by using aCGH. We identified a de novo microdeletion on chromosome 17q21.31, compatible with Koolen-de Vries syndrome. Our case shares some of the typical characteristics of the syndrome already described by other authors: delayed psychomotor development, primarily affecting the expressive language, dysmorphic facial features, and epilepsy. However the clinical outcome was not severe as the intellectual disabilities were moderate with good adaptive and functional behaviour. Epilepsy was easily controlled by a single drug, and he never needed surgery for organ abnormalities. Copyright © 2016 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.

  17. A Case of 17q21.31 Microduplication and 7q31.33 Microdeletion, Associated with Developmental Delay, Microcephaly, and Mild Dysmorphic Features

    Directory of Open Access Journals (Sweden)

    Adrian Mc Cormack

    2014-01-01

    Full Text Available Concurrent cryptic microdeletion and microduplication syndromes have recently started to reveal themselves with the advent of microarray technology. Analysis has shown that low-copy repeats (LCRs have allowed chromosome regions throughout the genome to become hotspots for nonallelic homologous recombination to take place. Here, we report a case of a 7.5-year-old girl who manifests microcephaly, developmental delay, and mild dysmorphic features. Microarray analysis identified a microduplication in chromosome 17q21.31, which encompasses the CRHR1, MAPT, and KANSL1 genes, as well as a microdeletion in chromosome 7q31.33 that is localised within the GRM8 gene. To our knowledge this is one of only a few cases of 17q21.31 microduplication. The clinical phenotype of patients with this microduplication is milder than of those carrying the reciprocal microdeletions, and suggests that the lower incidence of the former compared to the latter may be due to underascertainment.

  18. Searching for genes for cleft lip and/or palate based on breakpoint analysis of a balanced translocation t(9;17)(q32;q12).

    Science.gov (United States)

    Machida, Junichiro; Félix, Têmis M; Murray, Jeffrey C; Yoshiura, Koh-ichiro; Tanemura, Mitsuyo; Kamamoto, Munefumi; Shimozato, Kazuo; Sonta, Shin-ichi; Ono, Takao

    2009-09-01

    Identification of the breakpoints of disease-associated chromosome rearrangements can provide informative clues to a positional cloning approach for genes responsible for inherited diseases. Recently, we found a three-generation Japanese family segregating balanced chromosome translocation t(9;17)(q32;q12). One of the subjects had cleft lip and palate. We examined whether regions near the breakpoint could be associated with cleft lip and/or palate. We determined the breakpoints involved in the translocation by fluorescence in situ hybridization analysis and subsequent long-range polymerase chain reaction. In order to study the role of these disrupted regions in nonsyndromic cleft lip and/or palate, we performed mutation analysis and a haplotype-based transmission disequilibrium test using tagging single-nucleotide polymorphisms in the flanking regions of the breakpoints in white and Filipino nonsyndromic cleft lip and/or palate populations. Sequence analysis demonstrated that two genes, SLC31A1 (solute carrier family 31 member 1) on chromosome 9 and CCL2 (chemokine ligand 2) on chromosome 17, were rearranged with the breaks occurring within their introns. It is interesting that SLC31A1 lies closed to BSPRY (B-box and SPRY domain), which is a candidate for involvement with cleft lip and/or palate. Some of the variants in BSPRY and CCL2 showed significant p values in the cleft lip and/or palate population compared with the control population. There was also statistically significant evidence of transmission distortion for haplotypes on both chromosomes 9 and 17. The data support previous reports that genes on chromosomal regions of 9q and 17q play an important role in facial development.

  19. Hypersociability in the behavioral phenotype of 17q21.31 microdeletion syndrome

    NARCIS (Netherlands)

    Egger, J.I.M.; Wingbermühle, P.A.M.; Verhoeven, W.M.A.; Dijkman, M.W.; Radke, S.; Bruijn, E.R.A. de; Vries, B. de; Kessels, R.P.C.; Koolen, D.A.

    2013-01-01

    The 17q21.31 microdeletion syndrome with its characteristic features including developmental delay, moderate intellectual disability, facial dysmorphisms, and anomalies of the brain and multiple organ systems was recently described. As to its behavioral profile, scarce data from clinical

  20. 17q12 microdeletion syndrome: three patients illustrating the phenotypic spectrum.

    Science.gov (United States)

    Dixit, Abhijit; Patel, Chirag; Harrison, Rachel; Jarvis, Joanna; Hulton, Sally; Smith, Nigel; Yates, Katherine; Silcock, Lee; McMullan, Dominic J; Suri, Mohnish

    2012-09-01

    Deletions of 17q12 are associated with renal cysts and maturity onset diabetes of the young, and have also been identified in women with reproductive tract anomalies due to Mullerian aplasia. Although initially identified in patients with normal cognitive ability, some patients with this recurrent microdeletion syndrome have learning problems. We identified a 17q12 microdeletion in three patients with renal cystic disease by array comparative genomic hybridization and the phenotypic spectrum of the 17q12 microdeletion syndrome is illustrated by the description of these patients. Of two patients who are old enough to be assessed, one has significant speech delay, autism spectrum disorder, and mild learning difficulty, while the other patient has only mild speech delay. This highlights the variability of cognitive involvement in this condition. The third patient presented with Alagille syndrome-like features in the neonatal period. All three patients had transient hypercalcemia in the neonatal period, a finding that has not previously been described in this condition. Moreover, two patients have mild or no dysmorphism, while one displays striking facial dysmorphism in addition to minor congenital anomalies. We suggest that while patients with 17q12 microdeletion syndrome can present with type 2 diabetes or renal cysts without any dysmorphic features, a subgroup may have dysmorphic features or present with neonatal cholestasis. Transient neonatal hypercalcemia may be a feature of this microdeletion syndrome. Copyright © 2012 Wiley Periodicals, Inc.

  1. The human thyroglobulin gene: a polymorphic marker localized distal to C-MYC on chromosome 8 band q24

    NARCIS (Netherlands)

    Baas, F.; Bikker, H.; Geurts van Kessel, A.; Melsert, R.; Pearson, P. L.; de Vijlder, J. J.; van Ommen, G. J.

    1985-01-01

    The human thyroglobulin (Tg) gene is localized to chromosome 8 and regionally to band q24 as shown independently by both in situ hybridization techniques and Southern blot analysis of human-rodent somatic cell hybrids. Analysis of hybrids derived from a Burkitt lymphoma, with a translocation

  2. Detection of recurrent transmission of 17q12 microdeletion by array comparative genomic hybridization in a fetus with prenatally diagnosed hydronephrosis, hydroureter, and multicystic kidney, and variable clinical spectrum in the family.

    Science.gov (United States)

    Chen, Chih-Ping; Chang, Shuenn-Dyh; Wang, Tzu-Hao; Wang, Liang-Kai; Tsai, Jeng-Daw; Liu, Yu-Peng; Chern, Schu-Rern; Wu, Peih-Shan; Su, Jun-Wei; Chen, Yu-Ting; Wang, Wayseen

    2013-12-01

    This study was aimed at detection of recurrent transmission of the 17q12 microdeletion in a fetus with congenital anomalies of the kidney and urinary tract. A 35-year-old woman was referred to the hospital at 20 weeks' gestation because of hydronephrosis in the fetus. The mother was normal and healthy. Her second child was a girl who had bilateral dysplastic kidneys that required hemodialysis, and died at the age of 5 years. During this pregnancy, the woman underwent amniocentesis at 18 weeks' gestation because of advanced maternal age. Cytogenetic analysis revealed a karyotype of 46,XY. Prenatal ultrasound showed left hydronephrosis with a tortuous ureter, right hydronephrosis, and increased echogenicity of the kidneys. Fetal magnetic resonance imaging showed right dilated renal calyces, left hydronephrosis, hydroureter, and multicystic kidney. The pregnancy was subsequently terminated. Array comparative genomic hybridization (aCGH) and fluorescence in situ hybridization were applied for genetic analysis using umbilical cord, maternal blood, and cultured amniocytes. aCGH analysis on umbilical cord detected a 1.75-Mb deletion at 17q12 including haploinsufficiency of LHX1 and HNF1B. aCGH analysis on maternal blood detected a 1.54-Mb deletion at 17q12 including haploinsufficiency of LHX1 and HNF1B. Metaphase fluorescence in situ hybridization analysis on cultured amniocytes and maternal blood lymphocytes using 17q12-specific bacterial artificial chromosome probe showed 17q12 microdeletion in the fetus and the mother. Prenatal diagnosis of recurrent renal and urinary tract abnormalities in the fetus should include a differential diagnosis of familial 17q12 microdeletion. Copyright © 2013. Published by Elsevier B.V.

  3. Clinical Report of a 17q12 Microdeletion with Additionally Unreported Clinical Features

    OpenAIRE

    Roberts, Jennifer L.; Gandomi, Stephanie K.; Parra, Melissa; Lu, Ira; Gau, Chia-Ling; Dasouki, Majed; Butler, Merlin G.

    2014-01-01

    Copy number variations involving the 17q12 region have been associated with developmental and speech delay, autism, aggression, self-injury, biting and hitting, oppositional defiance, inappropriate language, and auditory hallucinations. We present a tall-appearing 17-year-old boy with marfanoid habitus, hypermobile joints, mild scoliosis, pectus deformity, widely spaced nipples, pes cavus, autism spectrum disorder, intellectual disability, and psychiatric manifestations including physical and...

  4. Genetic variants of 17q21 are associated with childhood-onset asthma and related phenotypes in a northeastern Han Chinese population: a case-control study.

    Science.gov (United States)

    Yu, X; Yu, C; Ren, Z; Deng, Y; Song, J; Zhang, H; Zhou, H

    2014-05-01

    A genome-wide association study (GWAS) suggested that variants on chromosome 17q21 were associated with childhood-onset asthma in white populations. Two replication studies had been conducted in southern Han Chinese population in 2009 and 2012. However, these two Chinese replication results were inconsistent. To further confirm the role of 17q21 common variants, an association study of 17q21 single nucleotide polymorphisms (SNPs) with the risk of childhood-onset asthma was performed in a Han population from northeastern China. In this study, rs3894194, rs12603332 and rs11650680 were genotyped in 435 asthmatic children and 601 healthy controls by using a SNaPshot method. Our data showed that the allelic frequency of rs12603332 and rs11650680 showed significant differences between asthmatic cases and healthy controls, with an odds ratio (OR) of 1.36 [95% confidence interval (CI) 1.12-1.65, P=0.002] and an OR of 1.36 (95% CI 1.07-1.74, P=0.01). Genotype distribution analysis also showed the significant associations of the above two loci with childhood asthma under dominant, recessive and additive model (dominant OR=1.57, 95% CI 1.04-2.36, P=0.032; recessive OR=1.41, 95% CI 1.09-1.83, P=0.009; additive OR=1.97, 95% CI 1.24-3.14, P=0.004; recessive OR=1.50, 95% CI 1.13-1.98, P=0.005). Besides, linear regression analysis showed that rs3894194 and rs12603332 were also significantly associated with asthma phenotypes such as log10 -transformed immunoglobulin E (IgE) level (IU/ml) and log10 -transformed eosinophil percentage (dominant, P=0.04; additive, P=0.01; recessive, P=0.04; recessive, P=0.03; additive, P=0.02). Collectively, our findings suggest that orosomucoid 1-like 3 (ORMDL3) locus on chromosome 17q21 is a risk factor for childhood-onset asthma in northeastern Han Chinese population. Further studies will be needed to elucidate the pathogenesis that ORMDL3 locus predisposes to childhood-onset asthma. © 2014 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  5. Prenatal diagnosis of 17q12 microdeletion syndrome in fetal renal abnormalities%超声发现胎儿肾脏异常的17q12染色体微缺失综合征三例产前诊断分析

    Institute of Scientific and Technical Information of China (English)

    蒋宇林; 戚庆炜; 周希亚; 耿芳芳; 白俊杰; 郝娜; 刘俊涛

    2017-01-01

    目的 通过分析17q12染色体微缺失综合征胎儿的临床资料,探讨该综合征的产前临床表型及产前诊断方法.方法2013年1月至2017年7月于中国医学科学院北京协和医院就诊行产前超声检查发现胎儿结构异常的孕妇7516例,其中超声发现胎儿单侧或双侧肾脏结构异常者655例(8.71%,655/7516).7516例孕妇中行染色体微阵列分析(CMA)技术产前诊断者共1370例,其中3例0.40%(3/7516)孕妇的胎儿诊断为17q12染色体微缺失综合征.3例孕妇及其胎儿均行产前诊断及核型分析,并通过亲代荧光原位杂交技术或CMA进行亲代验证.结果3例孕妇的胎儿均于孕中期超声检查提示"双侧肾脏结构的异常",异常包括肾脏回声增强、多发囊肿及肾盂增宽,其中1例"双侧多发肾囊肿"、2例"双侧肾回声增强".3例胎儿的染色体核型分析均正常,CMA检测提示均存在17q12染色体区域1.4~1.6 Mb的缺失.亲代验证结果显示,3例发生17q12染色体微缺失的胎儿中,2例为新发突变,1例遗传于母亲.经遗传咨询,3例孕妇均选择终止妊娠.结论 根据产前胎儿肾脏超声检查的特异性表现,通过产前诊断、染色体核型分析及CMA检测,可在产前诊断超声发现胎儿肾脏异常的17q12染色体微缺失综合征.少部分17q12染色体微缺失综合征患儿甚至遗传于表型正常的亲代,产前遗传咨询往往会相对困难.%[Abstrcat] Objectives To analyze 3 cases of 17q12 microdeletion syndrome diagnosed prenatally, and to demonstrate clinical phenotype of the syndrome in prenatal setting.Methods From January 2013 to July 2017,1 370 women received invasive prenatal diagnosis and chromosome microarray analysis(CMA)in Peking Union Medical College Hospital. Among them, 3 fetuses were diagnosed as 17q12 microdeletion syndrome.All 3 cases were low-risk pregnancies.Abnormal structures in fetal kidney were found in all 3 cases, including 1 case of multiple renal cysts,2

  6. Analysis of a Novel 17q25 Cell Cycle Gene Homolog: Is it a Breast Tumor Suppressor Gene?

    National Research Council Canada - National Science Library

    Kalikin, Linda

    2000-01-01

    ... of these molecular reagents into successful tools for the medical management of breast cancer. We hypothesize that a 350 kb region on 17q25 detected by our allelic imbalance studies harbors a novel breast tumor suppressor gene...

  7. Towards a new point of view on the phenotype of patients with a 17q12 microdeletion syndrome.

    Science.gov (United States)

    Laffargue, Fanny; Bourthoumieu, Sylvie; Llanas, Brigitte; Baudouin, Véronique; Lahoche, Annie; Morin, Denis; Bessenay, Lucie; De Parscau, Loïc; Cloarec, Sylvie; Delrue, Marie-Ange; Taupiac, Emmanuelle; Dizier, Emilie; Laroche, Cécile; Bahans, Claire; Yardin, Catherine; Lacombe, Didier; Guigonis, Vincent

    2015-03-01

    17q12 microdeletion syndrome involves 15 genes, including HNF1B, and is considered to confer a high risk of neuropsychiatric disorders. Patients with HNF1B gene deletion diagnosed secondary to renal disorders are only very rarely reported to have neuropsychiatric disorders. Interestingly, however, when tested, patients with HNF1B gene deletion are found to have 17q12 deletion. This brings into question the extent to which 17q12 deletion is genuinely associated with severe neuropsychological disorders and in which patients. In this study, we sought to confirm 17q12 microdeletion in kidney patients initially diagnosed with HNF1B gene deletion and evaluate neuropsychological disorders in these patients compared with those with HNF1B point mutation. Thirty-nine children with HNF1B disorders (26 with deletions) diagnosed secondary to renal abnormalities were included in this prospective study and tested for 17q12 microdeletion and neuropsychological disorders. The same 17q12 microdeletion found in patients with neuropsychological disorders was identified in all of our patients with HNF1B deletion. Neurological examinations found no severe impairments except for one patient with autism. No significant differences were found between patients with deletions and those with point mutations as concerns learning abilities and schooling. Nevertheless, patients with deletions tended to have lower developmental quotients and more difficulties at school. Complete deletion of the HNF1B gene and 17q12 microdeletion syndrome are actually the same genetic disorder. The neuropsychological phenotype of patients appears less severe when 17q12 deletion is diagnosed secondary to kidney rather than neuropsychological abnormalities. These data may influence antenatal counselling. 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.

  8. Cat exposure in early life decreases asthma risk from the 17q21 high-risk variant.

    Science.gov (United States)

    Stokholm, Jakob; Chawes, Bo L; Vissing, Nadja; Bønnelykke, Klaus; Bisgaard, Hans

    2018-05-01

    Early-life exposure to cats and dogs has shown diverging associations with childhood asthma risk, and gene-environment interaction is one possible explanation. We investigated interactions between cat and dog exposure and single nucleotide polymorphism rs7216389 variants in the chromosome 17q21 locus, the strongest known genetic risk factor for childhood asthma. Genotyping was performed in 377 children from the at-risk Copenhagen Prospective Studies on Asthma in Childhood 2000 . The primary end point was the development of asthma until age 12 years. The secondary end point was the number of episodes with pneumonia and bronchiolitis from 0 to 3 years of age. Exposures included cat and dog ownership from birth and cat and dog allergen levels in bedding at age 1 year. Replication was performed in the unselected COPSAC 2010 cohort with follow-up until 5 years of age. Cat and/or dog exposure from birth was associated with a lower prevalence of asthma among children with the rs7216389 high-risk TT genotype (adjusted hazard ratio, 0.16; 95% CI, 0.04-0.71; P = .015), with no effect in those with the CC/CT genotype (adjusted P = .283), demonstrating interaction between cat and dog exposure and the rs7216389 genotype (adjusted P = .044). Cat allergen levels were inversely associated with asthma development in children with the TT genotype (adjusted hazard ratio, 0.83; 95% CI, 0.71-0.97; P = .022), supporting the cat-rs7216389 genotype interaction (adjusted P = .008). Dog allergen exposure did not show such interaction. Furthermore, the TT genotype was associated with higher risk of pneumonia and bronchiolitis, and this increased risk was likewise decreased in children exposed to cat. Replication showed similar effects on asthma risk. The observed gene-environment interaction suggests a role of early-life exposure, especially to cat, for attenuating the risk of childhood asthma, pneumonia, and bronchiolitis in genetically susceptible subjects. Copyright © 2017

  9. Recurrent reciprocal genomic rearrangements of 17q12 are associated with renal disease, diabetes, and epilepsy.

    Science.gov (United States)

    Mefford, Heather C; Clauin, Severine; Sharp, Andrew J; Moller, Rikke S; Ullmann, Reinhard; Kapur, Raj; Pinkel, Dan; Cooper, Gregory M; Ventura, Mario; Ropers, H Hilger; Tommerup, Niels; Eichler, Evan E; Bellanne-Chantelot, Christine

    2007-11-01

    Most studies of genomic disorders have focused on patients with cognitive disability and/or peripheral nervous system defects. In an effort to broaden the phenotypic spectrum of this disease model, we assessed 155 autopsy samples from fetuses with well-defined developmental pathologies in regions predisposed to recurrent rearrangement, by array-based comparative genomic hybridization. We found that 6% of fetal material showed evidence of microdeletion or microduplication, including three independent events that likely resulted from unequal crossing-over between segmental duplications. One of the microdeletions, identified in a fetus with multicystic dysplastic kidneys, encompasses the TCF2 gene on 17q12, previously shown to be mutated in maturity-onset diabetes, as well as in a subset of pediatric renal abnormalities. Fine-scale mapping of the breakpoints in different patient cohorts revealed a recurrent 1.5-Mb de novo deletion in individuals with phenotypes that ranged from congenital renal abnormalities to maturity-onset diabetes of the young type 5. We also identified the reciprocal duplication, which appears to be enriched in samples from patients with epilepsy. We describe the first example of a recurrent genomic disorder associated with diabetes.

  10. In 17q21.31 microdeletion syndrome, hypersocial behaviour may be part of the neuropsychological phenotype

    NARCIS (Netherlands)

    Egger, J.I.M.; Wingbermühle, P.A.M.; Dijkman, M.W.; Verhoeven, W.M.A.

    2013-01-01

    Objective: The 17q21.31 microdeletion encompasses among others the microtubule associated protein tau (MAPT) gene that is highly expressed in the brain and is involved in several neurodegenerative disorders such as fronto-temporal dementias and progressive supranuclear palsy. It can be postulated

  11. Mitotic chromosome structure

    International Nuclear Information System (INIS)

    Heermann, Dieter W.

    2012-01-01

    Mounting evidence is compiling linking the physical organizational structure of chromosomes and the nuclear structure to biological function. At the base of the physical organizational structure of both is the concept of loop formation. This implies that physical proximity within chromosomes is provided for otherwise distal genomic regions and thus hierarchically organizing the chromosomes. Together with entropy many experimental observations can be explained with these two concepts. Among the observations that can be explained are the measured physical extent of the chromosomes, their shape, mechanical behavior, the segregation into territories (chromosomal and territories within chromosomes), the results from chromosome conformation capture experiments, as well as linking gene expression to structural organization.

  12. Mitotic chromosome structure

    Energy Technology Data Exchange (ETDEWEB)

    Heermann, Dieter W., E-mail: heermann@tphys.uni-heidelberg.de

    2012-07-15

    Mounting evidence is compiling linking the physical organizational structure of chromosomes and the nuclear structure to biological function. At the base of the physical organizational structure of both is the concept of loop formation. This implies that physical proximity within chromosomes is provided for otherwise distal genomic regions and thus hierarchically organizing the chromosomes. Together with entropy many experimental observations can be explained with these two concepts. Among the observations that can be explained are the measured physical extent of the chromosomes, their shape, mechanical behavior, the segregation into territories (chromosomal and territories within chromosomes), the results from chromosome conformation capture experiments, as well as linking gene expression to structural organization.

  13. Should we offer prenatal testing for 17q12 microdeletion syndrome to all cases with prenatally diagnosed echogenic kidneys? Prenatal findings in two families with 17q12 microdeletion syndrome and review of the literature.

    Science.gov (United States)

    Jones, Gabriela E; Mousa, Hatem A; Rowley, Helen; Houtman, Peter; Vasudevan, Pradeep C

    2015-12-01

    The objective of this study is to report the prenatal ultrasound scan findings in four fetuses from two families postnatally diagnosed with 17q12 microdeletion syndrome on microarray CGH and review the literature. We report two families presenting with prenatally detected hyperechogenic kidneys. In family 1, the mother had three pregnancies complicated by anhydramnios with bilateral hyperechogenic kidneys, hyperechogenic enlarged cystic kidneys, and bilateral hyperechogenic kidneys with polyhydramnios respectively. In family 2, prenatal ultrasound scans detected hyperechogenic kidneys. A pubmed search for all reported cases of 17q12 deletion between 2005 and 2015 was performed. All publications were reviewed, and findings summarised. Fourteen publications were deemed suitable for literature review; there was a diagnosis of 17q12 deletion with documented prenatal findings in 25 cases. Prenatal renal anomalies were reported in 88% of these cases. Anomalies were documented from 15 weeks, and most common presentation was hyperechogenic, muticystic, or enlarged kidneys. Both oligohydramnios and polyhydramnios were seen. Postnatal renal ultrasound scan findings were of muticystic or multicystic dysplastic kidney. There did not appear to be correlation of prenatal presentation and severity of renal disease. Prenatal testing should be offered to all cases of hyperechogenic kidneys, with unknown cause. © 2015 John Wiley & Sons, Ltd.

  14. DISTAL MYOPATHIES

    Science.gov (United States)

    Dimachkie, Mazen M.; Barohn, Richard J.

    2014-01-01

    Over a century ago, Gowers described two young patients in whom distal muscles weakness involved the hand, foot, sternocleidomastoid, and facial muscles in the other case the shoulder and distal leg musculature. Soon after, , similar distal myopathy cases were reported whereby the absence of sensory symptoms and of pathologic changes in the peripheral nerves and spinal cord at postmortem examination allowed differentiation from Charcot-Marie-Tooth disease. In 1951, Welander described autosomal dominant (AD) distal arm myopathy in a large Scandanavian cohort. Since then the number of well-characterized distal myopathies has continued to grow such that the distal myopathies have formed a clinically and genetically heterogeneous group of disorders. Affected kindred commonly manifest weakness that is limited to foot and toe muscles even in advanced stages of the disease, with variable mild proximal leg, distal arm, neck and laryngeal muscle involvement in selected individuals. An interesting consequence of the molecular characterization of the distal myopathies has been the recognition that mutation in a single gene can lead to more than one clinical disorder. For example, Myoshi myopathy (MM) and limb girdle muscular dystrophy (LGMD) type 2B are allelic disorders due to defects in the gene that encodes dysferlin. The six well described distal myopathy syndromes are shown in Table 1. Table 2 lists advances in our understanding of the myofibrillar myopathy group and Table 3 includes more recently delineated and less common distal myopathies. In the same manner, the first section of this review pertains to the more traditional six distal myopathies followed by discussion of the myofibrillar myopathies. In the third section, we review other clinically and genetically distinctive distal myopathy syndromes usually based upon single or smaller family cohorts. The fourth section considers other neuromuscular disorders that are important to recognize as they display prominent

  15. Identification and molecular characterization of a new ovarian cancer susceptibility locus at 17q21.31

    Science.gov (United States)

    Permuth-Wey, Jennifer; Lawrenson, Kate; Shen, Howard C.; Velkova, Aneliya; Tyrer, Jonathan P.; Chen, Zhihua; Lin, Hui-Yi; Chen, Y. Ann; Tsai, Ya-Yu; Qu, Xiaotao; Ramus, Susan J.; Karevan, Rod; Lee, Janet; Lee, Nathan; Larson, Melissa C.; Aben, Katja K.; Anton-Culver, Hoda; Antonenkova, Natalia; Antoniou, Antonis; Armasu, Sebastian M.; Bacot, François; Baglietto, Laura; Bandera, Elisa V.; Barnholtz-Sloan, Jill; Beckmann, Matthias W.; Birrer, Michael J.; Bloom, Greg; Bogdanova, Natalia; Brinton, Louise A.; Brooks-Wilson, Angela; Brown, Robert; Butzow, Ralf; Cai, Qiuyin; Campbell, Ian; Chang-Claude, Jenny; Chanock, Stephen; Chenevix-Trench, Georgia; Cheng, Jin Q.; Cicek, Mine S.; Coetzee, Gerhard A.; Cook, Linda S.; Couch, Fergus J.; Cramer, Daniel W.; Cunningham, Julie M.; Dansonka-Mieszkowska, Agnieszka; Despierre, Evelyn; Doherty, Jennifer A; Dörk, Thilo; du Bois, Andreas; Dürst, Matthias; Easton, Douglas F; Eccles, Diana; Edwards, Robert; Ekici, Arif B.; Fasching, Peter A.; Fenstermacher, David A.; Flanagan, James M.; Garcia-Closas, Montserrat; Gentry-Maharaj, Aleksandra; Giles, Graham G.; Glasspool, Rosalind M.; Gonzalez-Bosquet, Jesus; Goodman, Marc T.; Gore, Martin; Górski, Bohdan; Gronwald, Jacek; Hall, Per; Halle, Mari K.; Harter, Philipp; Heitz, Florian; Hillemanns, Peter; Hoatlin, Maureen; Høgdall, Claus K.; Høgdall, Estrid; Hosono, Satoyo; Jakubowska, Anna; Jensen, Allan; Jim, Heather; Kalli, Kimberly R.; Karlan, Beth Y.; Kaye, Stanley B.; Kelemen, Linda E.; Kiemeney, Lambertus A.; Kikkawa, Fumitaka; Konecny, Gottfried E.; Krakstad, Camilla; Kjaer, Susanne Krüger; Kupryjanczyk, Jolanta; Lambrechts, Diether; Lambrechts, Sandrina; Lancaster, Johnathan M.; Le, Nhu D.; Leminen, Arto; Levine, Douglas A.; Liang, Dong; Lim, Boon Kiong; Lin, Jie; Lissowska, Jolanta; Lu, Karen H.; Lubiński, Jan; Lurie, Galina; Massuger, Leon F.A.G.; Matsuo, Keitaro; McGuire, Valerie; McLaughlin, John R; Menon, Usha; Modugno, Francesmary; Moysich, Kirsten B.; Nakanishi, Toru; Narod, Steven A.; Nedergaard, Lotte; Ness, Roberta B.; Nevanlinna, Heli; Nickels, Stefan; Noushmehr, Houtan; Odunsi, Kunle; Olson, Sara H.; Orlow, Irene; Paul, James; Pearce, Celeste L; Pejovic, Tanja; Pelttari, Liisa M.; Pike, Malcolm C.; Poole, Elizabeth M.; Raska, Paola; Renner, Stefan P.; Risch, Harvey A.; Rodriguez-Rodriguez, Lorna; Rossing, Mary Anne; Rudolph, Anja; Runnebaum, Ingo B.; Rzepecka, Iwona K.; Salvesen, Helga B.; Schwaab, Ira; Severi, Gianluca; Shridhar, Vijayalakshmi; Shu, Xiao-Ou; Shvetsov, Yurii B.; Sieh, Weiva; Song, Honglin; Southey, Melissa C.; Spiewankiewicz, Beata; Stram, Daniel; Sutphen, Rebecca; Teo, Soo-Hwang; Terry, Kathryn L.; Tessier, Daniel C.; Thompson, Pamela J.; Tworoger, Shelley S.; van Altena, Anne M.; Vergote, Ignace; Vierkant, Robert A.; Vincent, Daniel; Vitonis, Allison F.; Wang-Gohrke, Shan; Weber, Rachel Palmieri; Wentzensen, Nicolas; Whittemore, Alice S.; Wik, Elisabeth; Wilkens, Lynne R.; Winterhoff, Boris; Woo, Yin Ling; Wu, Anna H.; Xiang, Yong-Bing; Yang, Hannah P.; Zheng, Wei; Ziogas, Argyrios; Zulkifli, Famida; Phelan, Catherine M.; Iversen, Edwin; Schildkraut, Joellen M.; Berchuck, Andrew; Fridley, Brooke L.; Goode, Ellen L.; Pharoah, Paul D. P.; Monteiro, Alvaro N.A.; Sellers, Thomas A.; Gayther, Simon A.

    2013-01-01

    Epithelial ovarian cancer (EOC) has a heritable component that remains to be fully characterized. Most identified common susceptibility variants lie in non-protein-coding sequences. We hypothesized that variants in the 3′ untranslated region at putative microRNA (miRNA) binding sites represent functional targets that influence EOC susceptibility. Here, we evaluate the association between 767 miRNA binding site single nucleotide polymorphisms (miRSNPs) and EOC risk in 18,174 EOC cases and 26,134 controls from 43 studies genotyped through the Collaborative Oncological Gene-environment Study. We identify several miRSNPs associated with invasive serous EOC risk (OR=1.12, P=10−8) mapping to an inversion polymorphism at 17q21.31. Additional genotyping of non-miRSNPs at 17q21.31 reveals stronger signals outside the inversion (P=10−10). Variation at 17q21.31 associates with neurological diseases, and our collaboration is the first to report an association with EOC susceptibility. An integrated molecular analysis in this region provides evidence for ARHGAP27 and PLEKHM1 as candidate EOC susceptibility genes. PMID:23535648

  16. Functional Consequences of 17q21.31/WNT3-WNT9B Amplification in hPSCs with Respect to Neural Differentiation

    Directory of Open Access Journals (Sweden)

    Chun-Ting Lee

    2015-02-01

    Full Text Available Human pluripotent stem cell (hPSC lines exhibit repeated patterns of genetic variation, which can alter in vitro properties as well as suitability for clinical use. We examined associations between copy-number variations (CNVs on chromosome 17 and hPSC mesodiencephalic dopaminergic (mDA differentiation. Among 24 hPSC lines, two karyotypically normal lines, BG03 and CT3, and BG01V2, with trisomy 17, exhibited amplification of the WNT3/WNT9B region and rapid mDA differentiation. In hPSC lines with amplified WNT3/WNT9B, basic fibroblast growth factor (bFGF signaling through mitogen-activated protein kinase (MAPK/ERK amplifies canonical WNT signaling by phosphorylating LRP6, resulting in enhanced undifferentiated proliferation. When bFGF is absent, noncanonical WNT signaling becomes dominant due to upregulation of SIAH2, enhancing JNK signaling and promoting loss of pluripotency. When bFGF is present during mDA differentiation, stabilization of canonical WNT signaling causes upregulation of LMX1A and mDA induction. Therefore, CNVs in 17q21.31, a “hot spot” for genetic variation, have multiple and complex effects on hPSC cellular phenotype.

  17. Occurrence and type of chromosomal abnormalities in consecutive malignant monoclonal gammopathies: correlation with survival

    DEFF Research Database (Denmark)

    Lisse, I M; Drivsholm, A; Christoffersen, P

    1988-01-01

    Chromosome studies were done on 73 patients with multiple myeloma and three patients with plasma cell leukemia. Eighteen of 76 patients (24%) had chromosomally abnormal clones, including all three patients with PCL. The most common anomalous chromosomes were #1, #14, and #12. In addition, i(17q) ...

  18. Fine scale mapping of the 17q22 breast cancer locus using dense SNPs, genotyped within the Collaborative Oncological Gene-Environment Study (COGs)

    NARCIS (Netherlands)

    H. Darabi (Hatef); J. Beesley (Jonathan); A. Droit (Arnaud); S. Kar (Siddhartha); S. Nord (Silje); M.M. Marjaneh (Mahdi Moradi); Soucy, P. (Penny); K. Michailidou (Kyriaki); M. Ghoussaini (Maya); Wahl, H.F. (Hanna Fues); M.K. Bolla (Manjeet K.); Wang, Q. (Qin); J. Dennis (Joe); M.R. Alonso (Rosario); I.L. Andrulis (Irene); H. Anton-Culver (Hoda); Arndt, V. (Volker); M.W. Beckmann (Matthias); J. Benítez (Javier); N.V. Bogdanova (Natalia); S.E. Bojesen (Stig); H. Brauch (Hiltrud); H. Brenner (Hermann); A. Broeks (Annegien); T. Brüning (Thomas); B. Burwinkel (Barbara); J. Chang-Claude (Jenny); Choi, J.-Y. (Ji-Yeob); D. Conroy (Don); F.J. Couch (Fergus); A. Cox (Angela); S.S. Cross (Simon); K. Czene (Kamila); P. Devilee (Peter); T. Dörk (Thilo); D.F. Easton (Douglas F.); P.A. Fasching (Peter); J.D. Figueroa (Jonine); O. Fletcher (Olivia); H. Flyger (Henrik); Galle, E. (Eva); M. García-Closas (Montserrat); Giles, G.G. (Graham G.); M.S. Goldberg (Mark); A. González-Neira (Anna); P. Guénel (Pascal); C.A. Haiman (Christopher A.); Hallberg, E. (Emily); U. Hamann (Ute); J.M. Hartman (Joost); A. Hollestelle (Antoinette); J.L. Hopper (John); H. Ito (Hidemi); A. Jakubowska (Anna); Johnson, N. (Nichola); D. Kang (Daehee); S. Khan (Sofia); V-M. Kosma (Veli-Matti); Kriege, M. (Mieke); V. Kristensen (Vessela); Lambrechts, D. (Diether); L. Le Marchand (Loic); Lee, S.C. (Soo Chin); A. Lindblom (Annika); A. Lophatananon (Artitaya); J. Lubinski (Jan); A. Mannermaa (Arto); S. Manoukian (Siranoush); S. Margolin (Sara); K. Matsuo (Keitaro); Mayes, R. (Rebecca); McKay, J. (James); A. Meindl (Alfons); R.L. Milne (Roger); K.R. Muir (K.); S.L. Neuhausen (Susan); H. Nevanlinna (Heli); C. Olswold (Curtis); Orr, N. (Nick); P. Peterlongo (Paolo); G. Pita (Guillermo); K. Pykäs (Katri); Rudolph, A. (Anja); Sangrajrang, S. (Suleeporn); Sawyer, E.J. (Elinor J.); M.K. Schmidt (Marjanka); R.K. Schmutzler (Rita); C.M. Seynaeve (Caroline); Shah, M. (Mitul); C.-Y. Shen (Chen-Yang); X.-O. Shu (Xiao-Ou); M.C. Southey (Melissa); Stram, D.O. (Daniel O.); H. Surowy (Harald); A.J. Swerdlow (Anthony ); S.-H. Teo (Soo-Hwang); D.C. Tessier (Daniel C.); I.P. Tomlinson (Ian); D. Torres (Diana); T. Truong (Thérèse); C. Vachon (Celine); D. Vincent (Daniel); R. Winqvist (Robert); A.H. Wu (Anna); P.-E. Wu (Pei-Ei); C.H. Yip (Cheng Har); W. Zheng (Wei); P.D.P. Pharoah (Paul); P. Hall (Per); S.L. Edwards (Stacey); J. Simard (Jacques); J.D. French (Juliet); G. Chenevix-Trench (Georgia); A.M. Dunning (Alison)

    2016-01-01

    textabstractGenome-wide association studies have found SNPs at 17q22 to be associated with breast cancer risk. To identify potential causal variants related to breast cancer risk, we performed a high resolution fine-mapping analysis that involved genotyping 517 SNPs using a custom Illumina iSelect

  19. Two new cases with microdeletion of 17q23.2 suggest presence of a candidate gene for sensorineural hearing loss within this region

    DEFF Research Database (Denmark)

    Schönewolf-Greulich, Bitten; Ronan, Anne; Ravn, Kristine

    2011-01-01

    Microdeletion of the 17q23.2 region has very recently been suggested as a new emerging syndrome based on the finding of 8 cases with common phenotypes including mild-to-moderate developmental delay, heart defects, microcephaly, postnatal growth retardation, and hand, foot, and limb abnormalities...

  20. An autosomal recessive leucoencephalopathy with ischemic stroke, dysmorphic syndrome and retinitis pigmentosa maps to chromosome 17q24.2-25.3

    OpenAIRE

    Bouhouche Ahmed; Benomar Ali; Errguig Leila; Lachhab Lamiae; Bouslam Naima; Aasfara Jehanne; Sefiani Sanaa; Chabraoui Layachi; El Fahime Elmostafa; El Quessar Abdeljalil; Jiddane Mohamed; Yahyaoui Mohamed

    2012-01-01

    Abstract Background Single-gene disorders related to ischemic stroke seem to be an important cause of stroke in young patients without known risk factors. To identify new genes responsible of such diseases, we studied a consanguineous Moroccan family with three affected individuals displaying hereditary leucoencephalopathy with ischemic stroke, dysmorphic syndrome and retinitis pigmentosa that appears to segregate in autosomal recessive pattern. Methods All family members underwent neurologic...

  1. Localization of the gene for sclerosteosis to the van Buchem Disease-gene region on chromosome 17q12-q21

    NARCIS (Netherlands)

    Balemans, W; Van Den Ende, J; Paes-Alves, AF; Dikkers, FG; Willems, PJ; Vanhoenacker, F; de Almeida-Melo, N; Alves, CF; Stratakis, CA; Hill, SC; Van Hul, W

    Sclerosteosis is an uncommon, autosomal recessive, progressive, sclerosing, bone dysplasia characterized by generalized osteosclerosis and hyperostosis of the skeleton, affecting mainly the skull and mandible. In most patients this causes facial paralysis and hearing loss. Other features are

  2. Analysis of t(9;17)(q33.2;q25.3) chromosomal breakpoint regions and genetic association reveals novel candidate genes for bipolar disorder

    DEFF Research Database (Denmark)

    Rajkumar, Anto P; Christensen, Jane H; Mattheisen, Manuel

    2015-01-01

    ,856) data. Genetic associations between these disorders and single nucleotide polymorphisms within these breakpoint regions were analysed by BioQ, FORGE, and RegulomeDB programmes. RESULTS: Four protein-coding genes [coding for (endonuclease V (ENDOV), neuronal pentraxin I (NPTX1), ring finger protein 213...

  3. 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...... 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...... illustrate that an overall milder disease burden is seen, in particular in patients with 17q12 duplications who are ascertained on the duplication rather than the phenotype. This evidence may be useful in prenatal counseling...

  4. Bizarre parosteal osteochondromatous proliferation: a new cytogenetic subgroup characterized by inversion of chromosome 7.

    Science.gov (United States)

    Broehm, Cory J; M'Lady, Gary; Bocklage, Thèrése; Wenceslao, Stella; Chafey, David

    2013-11-01

    Bizarre parosteal osteochondromatous proliferation (BPOP) is a rare, benign osteocartilaginous lesion characterized by a mixture of immature bone, bland spindle cells, and irregular, hypercellular cartilage undergoing calcification. A t(1;17)(q32;q21) has been reported as a unique recurring translocation identified in seven cases. Inversion of chromosome 7, inv(7)(q22q32), has also recently been described in one case of BPOP. We report an additional case of inv(7) in a BPOP occurring on the distal radius in a 36-year-old woman who presented with a slow-growing mass on the right wrist. Metaphase karyotype analysis of fresh tissue from tumor taken at resection revealed an inv(7)(q22q32). A review of the literature identified two additional cases of inv(7) (q21.1q31.3 and q22.1q31.3), both paired with inv(6)(p25q15), bringing the total number of cases of inv(7) in BPOP to four. These data suggest inv(7) may be another characteristic cytogenetic abnormality associated with and possibly contributing to the development of BPOP. Copyright © 2013 Elsevier Inc. All rights reserved.

  5. Fine scale mapping of the 17q22 breast cancer locus using dense SNPs, genotyped within the Collaborative Oncological Gene-Environment Study (COGs)

    OpenAIRE

    Darabi, Hatef; Beesley, Jonathan; Droit, Arnaud; Kar, Siddhartha; Nord, Silje; Moradi Marjaneh, Mahdi; Soucy, Penny; Michailidou, Kyriaki; Ghoussaini, Maya; Fues Wahl, Hanna; Bolla, Manjeet K.; Wang, Qin; Dennis, Joe; Alonso, M Rosario; Andrulis, Irene L.

    2016-01-01

    Genome-wide association studies have found SNPs at 17q22 to be associated with breast cancer risk. To identify potential causal variants related to breast cancer risk, we performed a high resolution fine-mapping analysis that involved genotyping 517 SNPs using a custom Illumina iSelect array (iCOGS) followed by imputation of genotypes for 3,134 SNPs in more than 89,000 participants of European ancestry from the Breast Cancer Association Consortium (BCAC). We identified 28 highly correlated co...

  6. Distal renal tubular acidosis

    Science.gov (United States)

    ... this disorder. Alternative Names Renal tubular acidosis - distal; Renal tubular acidosis type I; Type I RTA; RTA - distal; Classical RTA Images Kidney anatomy Kidney - blood and urine flow References Bose A, Monk RD, Bushinsky DA. Kidney ...

  7. Chromosomal Abnormalities Associated With Omphalocele

    Directory of Open Access Journals (Sweden)

    Chih-Ping Chen

    2007-03-01

    Full Text Available Fetuses with omphalocele have an increased risk for chromosomal abnormalities. The risk varies with maternal age, gestational age at diagnosis, association with umbilical cord cysts, complexity of associated anomalies, and the contents of omphalocele. There is considerable evidence that genetics contributes to the etiology of omphalocele. This article provides an overview of chromosomal abnormalities associated with omphalocele and a comprehensive review of associated full aneuploidy such as trisomy 18, trisomy 13, triploidy, trisomy 21, 45,X, 47,XXY, and 47,XXX, partial aneuploidy such as dup(3q, dup(11p, inv(11, dup(1q, del(1q, dup(4q, dup(5p, dup(6q, del(9p, dup(15q, dup(17q, Pallister-Killian syndrome with mosaic tetrasomy 12p and Miller-Dieker lissencephaly syndrome with deletion of 17p13.3, and uniparental disomy (UPD such as UPD 11 and UPD 14. Omphalocele is a prominent marker for chromosomal abnormalities. Perinatal identification of omphalocele should alert chromosomal abnormalities and familial unbalanced translocations, and prompt thorough cytogenetic investigations and genetic counseling.

  8. Ring Chromosome 17 Not Involving the Miller-Dieker Region: A Case with Drug-Resistant Epilepsy.

    Science.gov (United States)

    Coppola, Antonietta; Morrogh, Deborah; Farrell, Fiona; Balestrini, Simona; Hernandez-Hernandez, Laura; Krithika, S; Sander, Josemir W; Waters, Jonathan J; Sisodiya, Sanjay M

    2017-12-01

    Chromosomal abnormalities are often identified in people with neurodevelopmental disorders including intellectual disability, autism, and epilepsy. Ring chromosomes, which usually involve gene copy number loss, are formed by fusion of subtelomeric or telomeric chromosomal regions. Some ring chromosomes, including ring 14, 17, and 20, are strongly associated with seizure disorders. We report an individual with a ring chromosome 17, r(17)(p13.3q25.3), with a terminal 17q25.3 deletion and no short arm copy number loss, and with a phenotype characterized by intellectual disability and drug-resistant epilepsy, including a propensity for nonconvulsive status epilepticus.

  9. Polytene chromosome map and inversion polymorphism in Drosophila mediopunctata

    Directory of Open Access Journals (Sweden)

    Galina Ananina

    2002-07-01

    Full Text Available Drosophila mediopunctata belongs to the tripunctata group, and is one of the commonest Drosophila species collected in some places in Brazil, especially in the winter. A standard map of the polytene chromosomes is presented. The breakpoints of the naturally occurring chromosomal rearrangements are marked on the map. The distribution of breaking points through the chromosomes of D. mediopunctata is apparently non-random. Chromosomes X, II and IV show inversion polymorphisms. Chromosome II is the most polymorphic, with 17 inversions, 8 inversions in the distal region and 9 in the proximal region. Chromosome X has four different gene arrangements, while chromosome IV has only two.

  10. Distal digital replantation.

    Science.gov (United States)

    Jazayeri, Leila; Klausner, Jill Q; Chang, James

    2013-11-01

    Hand surgeons have been hesitant to perform distal digital replantation because of the technical challenges and the perception of a high cost-to-benefit ratio. Recent studies, however, have shown high survival rates and excellent functional and aesthetic results, providing renewed enthusiasm for distal replantation. The authors reviewed the literature and summarize key points regarding the surgical treatment, perioperative care, and outcomes of distal digital replantation. They describe specific techniques and considerations for surgical repair in each of four distal zones as described by Sebastin and Chung. Zone 1A replantation involves an artery-only anastomosis of a longitudinal pulp artery. Venous anastomosis first becomes possible in zone 1B. Zone 1C involves periarticular amputations where arthrodesis of the distal interphalangeal joint is usually indicated. Repair of the artery, vein, and nerve is technically optimal in zone 1D, where venous anastomosis should be performed. Overall, survival rates for distal digital replantation are similar to those reported for more proximal replantation. The literature reports good outcomes regarding nail salvage, fingertip sensibility, and range of motion, with restoration of length and aesthetic appearance. Distal replantation performed at institutions that specialize in microsurgery and specifically tailored to the level of injury is associated with good survival, function, and patient satisfaction and superior aesthetic outcome. More prospective data are needed to evaluate the cost of treatment, psychological outcomes, and functional outcomes of distal replantation compared with revision amputation.

  11. Genome sequencing and transcriptome analysis of Trichoderma reesei QM9978 strain reveals a distal chromosome translocation to be responsible for loss of vib1 expression and loss of cellulase induction.

    Science.gov (United States)

    Ivanova, Christa; Ramoni, Jonas; Aouam, Thiziri; Frischmann, Alexa; Seiboth, Bernhard; Baker, Scott E; Le Crom, Stéphane; Lemoine, Sophie; Margeot, Antoine; Bidard, Frédérique

    2017-01-01

    The hydrolysis of biomass to simple sugars used for the production of biofuels in biorefineries requires the action of cellulolytic enzyme mixtures. During the last 50 years, the ascomycete Trichoderma reesei , the main source of industrial cellulase and hemicellulase cocktails, has been subjected to several rounds of classical mutagenesis with the aim to obtain higher production levels. During these random genetic events, strains unable to produce cellulases were generated. Here, whole genome sequencing and transcriptomic analyses of the cellulase-negative strain QM9978 were used for the identification of mutations underlying this cellulase-negative phenotype. Sequence comparison of the cellulase-negative strain QM9978 to the reference strain QM6a identified a total of 43 mutations, of which 33 were located either close to or in coding regions. From those, we identified 23 single-nucleotide variants, nine InDels, and one translocation. The translocation occurred between chromosomes V and VII, is located upstream of the putative transcription factor vib1 , and abolishes its expression in QM9978 as detected during the transcriptomic analyses. Ectopic expression of vib1 under the control of its native promoter as well as overexpression of vib1 under the control of a strong constitutive promoter restored cellulase expression in QM9978, thus confirming that the translocation event is the reason for the cellulase-negative phenotype. Gene deletion of vib1 in the moderate producer strain QM9414 and in the high producer strain Rut-C30 reduced cellulase expression in both cases. Overexpression of vib1 in QM9414 and Rut-C30 had no effect on cellulase production, most likely because vib1 is already expressed at an optimal level under normal conditions. We were able to establish a link between a chromosomal translocation in QM9978 and the cellulase-negative phenotype of the strain. We identified the transcription factor vib1 as a key regulator of cellulases in T. reesei whose

  12. Electroexcitation of the Roper resonance for 1.7 < Q**2 < 4.5 -GeV2 in vec-ep ---> en pi+

    Energy Technology Data Exchange (ETDEWEB)

    Aznauryan, Inna; Burkert, Volker; Kim, Wooyoung; Park, Kil; Adams, Gary; Amaryan, Moscov; Amaryan, Moskov; Ambrozewicz, Pawel; Anghinolfi, Marco; Asryan, Gegham; Avagyan, Harutyun; Bagdasaryan, H.; Baillie, Nathan; Ball, J.P.; Ball, Jacques; Baltzell, Nathan; Barrow, Steve; Batourine, V.; Battaglieri, Marco; Bedlinskiy, Ivan; Bektasoglu, Mehmet; Bellis, Matthew; Benmouna, Nawal; Berman, Barry; Biselli, Angela; Blaszczyk, Lukasz; Bonner, Billy; Bookwalter, Craig; Bouchigny, Sylvain; Boyarinov, Sergey; Bradford, Robert; Branford, Derek; Briscoe, Wilbert; Brooks, William; Bultmann, S.; Bueltmann, Stephen; Butuceanu, Cornel; Calarco, John; Careccia, Sharon; Carman, Daniel; Casey, Liam; Cazes, Antoine; Chen, Shifeng; Cheng, Lu; Cole, Philip; Collins, Patrick; Coltharp, Philip; Cords, Dieter; Corvisiero, Pietro; Crabb, Donald; Crede, Volker; Cummings, John; Dale, Daniel; Dashyan, Natalya; De Masi, Rita; De Vita, Raffaella; De Sanctis, Enzo; Degtiarenko, Pavel; Denizli, Haluk; Dennis, Lawrence; Deur, Alexandre; Dhamija, Seema; Dharmawardane, Kahanawita; Dhuga, Kalvir; Dickson, Richard; Djalali, Chaden; Dodge, Gail; Donnelly, J.; Doughty, David; Dugger, Michael; Dytman, Steven; Dzyubak, Oleksandr; Egiyan, Hovanes; Egiyan, Kim; Elfassi, Lamiaa; Elouadrhiri, Latifa; Eugenio, Paul; Fatemi, Renee; Fedotov, Gleb; Feldman, Gerald; Feuerbach, Robert; Forest, Tony; Fradi, Ahmed; Funsten, Herbert; Gabrielyan, Marianna; Garcon, Michel; Gavalian, Gagik; Gevorgyan, Nerses; Gilfoyle, Gerard; Giovanetti, Kevin; Girod, Francois-Xavier; Goetz, John; Gohn, Wesley; Golovach, Evgeny; Gonenc, Atilla; Gordon, Christopher; Gothe, Ralf; Graham, L.; Griffioen, Keith; Guidal, Michel; Guillo, Matthieu; Guler, Nevzat; Guo, Lei; Gyurjyan, Vardan; Hadjidakis, Cynthia; Hafidi, Kawtar; Hafnaoui, Khadija; Hakobyan, Hayk; Hakobyan, Rafael; Hanretty, Charles; Hardie, John; Hassall, Neil; Heddle, David; Hersman, F.; Hicks, Kenneth; Hleiqawi, Ishaq; Holtrop, Maurik; Hyde, Charles; Ilieva, Yordanka; Ireland, David; Ishkhanov, Boris; Isupov, Evgeny; Ito, Mark; Jenkins, David; Jo, Hyon-Suk; Johnstone, John; Joo, Kyungseon; Juengst, Henry; Kalantarians, Narbe; Keller, Dustin; Kellie, James; Khandaker, Mahbubul; Kim, Kui; Klein, Andreas; Klein, Andreas; Klimenko, Alexei; Kossov, Mikhail; Krahn, Zebulun; Kramer, Laird; Kubarovsky, Valery; Kuhn, Joachim; Kuhn, Sebastian; Kuleshov, Sergey; Kuznetsov, Viacheslav; Lachniet, Jeff; Laget, Jean; Langheinrich, Jorn; Lawrence, Dave; Lee, T.; Lima, Ana; Livingston, Kenneth; Lu, Haiyun; Lukashin, Konstantin; MacCormick, Marion; Markov, Nikolai; Mattione, Paul; McAleer, Simeon; McKinnon, Bryan; McNabb, John; Mecking, Bernhard; Mehrabyan, Surik; Melone, Joseph; Mestayer, Mac; Meyer, Curtis; Mibe, Tsutomu; Mikhaylov, Konstantin; Minehart, Ralph; Mirazita, Marco; Miskimen, Rory; Mokeev, Viktor; Morand, Ludyvine; Moreno, Brahim; Moriya, Kei; Morrow, Steven; Moteabbed, Maryam; Mueller, James; Munevar Espitia, Edwin; Mutchler, Gordon; Nadel-Turonski, Pawel; Nasseripour, Rakhsha; Niccolai, Silvia; Niculescu, Gabriel; Niculescu, Maria-Ioana; Niczyporuk, Bogdan; Niroula, Megh; Niyazov, Rustam; Nozar, Mina; O' Rielly, Grant; Osipenko, Mikhail; Ostrovidov, Alexander; Park, S.; Pasyuk, Evgueni; Paterson, Craig; Anefalos Pereira, S.; Philips, Sasha; Pierce, Jerome; Pivnyuk, Nikolay; Pocanic, Dinko; Pogorelko, Oleg; Polli, Ermanno; Popa, Iulian; Pozdnyakov, Sergey; Preedom, Barry; Price, John; Prok, Yelena; Protopopescu, Dan; Qin, Liming; Raue, Brian; Riccardi, Gregory; Ricco, Giovanni; Ripani, Marco; Ritchie, Barry; Rosner, Guenther; Rossi, Patrizia; Rowntree, David; Rubin, Philip; Sabatie, Franck; Saini, Mukesh; Salamanca, Julian; Salgado, Carlos; Santoro, Joseph; Sapunenko, Vladimir; Schott, Diane; Schumacher, Reinhard; Serov, Vladimir; Sharabian, Youri; Sharov, Dmitri; Shaw, J.; Shvedunov, Nikolay; Skabelin, Alexander; Smith, Elton; Smith, Lee; Sober, Daniel; Sokhan, Daria; Stavinskiy, Aleksey; Stepanyan, Samuel; Stepanyan, Stepan; Stokes, Burnham

    2008-10-01

    DOI: http://dx.doi.org/10.1103/PhysRevC.78.045209
    The helicity amplitudes of the electroexcitation of the Roper resonance are extracted for 1.7 < Q2 < 4.5 GeV2 from recent high precision JLab-CLAS cross section and longitudinally polarized beam asymmetry data for pi+ electroproduction on protons at W=1.15-1.69 GeV. The analysis is made using two approaches, dispersion relations and a unitary isobar model, which give consistent results. It is found that the transverse helicity amplitude A_{1/2} for the gamma* p -> N(1440)P11 transition, which is large and negative at Q2=0, becomes large and positive at Q2 ~ 2 GeV2, and then drops slowly with Q2. The longitudinal helicity amplitude S_{1/2}, which was previously found from CLAS ep -> eppi0,enpi+ data to be large and positive at Q2=0.4,0.65 GeV2, drops with Q2. Available model predictions for gamma* p -> N(1440)P11 allow us to conclude that these results provide strong evidence in favor of N(1440)P11 as a first radial excitation of

  13. Chromosome 17 alterations identify good-risk and poor-risk tumors independently of clinical factors in medulloblastoma

    Science.gov (United States)

    McCabe, Martin G.; Bäcklund, L. Magnus; Leong, Hui Sun; Ichimura, Koichi; Collins, V. Peter

    2011-01-01

    Current risk stratification schemas for medulloblastoma, based on combinations of clinical variables and histotype, fail to accurately identify particularly good- and poor-risk tumors. Attempts have been made to improve discriminatory power by combining clinical variables with cytogenetic data. We report here a pooled analysis of all previous reports of chromosomal copy number related to survival data in medulloblastoma. We collated data from previous reports that explicitly quoted survival data and chromosomal copy number in medulloblastoma. We analyzed the relative prognostic significance of currently used clinical risk stratifiers and the chromosomal aberrations previously reported to correlate with survival. In the pooled dataset metastatic disease, incomplete tumor resection and severe anaplasia were associated with poor outcome, while young age at presentation was not prognostically significant. Of the chromosomal variables studied, isolated 17p loss and gain of 1q correlated with poor survival. Gain of 17q without associated loss of 17p showed a trend to improved outcome. The most commonly reported alteration, isodicentric chromosome 17, was not prognostically significant. Sequential multivariate models identified isolated 17p loss, isolated 17q gain, and 1q gain as independent prognostic factors. In a historical dataset, we have identified isolated 17p loss as a marker of poor outcome and 17q gain as a novel putative marker of good prognosis. Biological markers of poor-risk and good-risk tumors will be critical in stratifying treatment in future trials. Our findings should be prospectively validated independently in future clinical studies. PMID:21292688

  14. A genome-wide association meta-analysis identifies a novel locus at 17q11.2 associated with sporadic amyotrophic lateral sclerosis

    Science.gov (United States)

    Fogh, Isabella; Ratti, Antonia; Gellera, Cinzia; Lin, Kuang; Tiloca, Cinzia; Moskvina, Valentina; Corrado, Lucia; Sorarù, Gianni; Cereda, Cristina; Corti, Stefania; Gentilini, Davide; Calini, Daniela; Castellotti, Barbara; Mazzini, Letizia; Querin, Giorgia; Gagliardi, Stella; Del Bo, Roberto; Conforti, Francesca L.; Siciliano, Gabriele; Inghilleri, Maurizio; Saccà, Francesco; Bongioanni, Paolo; Penco, Silvana; Corbo, Massimo; Sorbi, Sandro; Filosto, Massimiliano; Ferlini, Alessandra; Di Blasio, Anna M.; Signorini, Stefano; Shatunov, Aleksey; Jones, Ashley; Shaw, Pamela J.; Morrison, Karen E.; Farmer, Anne E.; Van Damme, Philip; Robberecht, Wim; Chiò, Adriano; Traynor, Bryan J.; Sendtner, Michael; Melki, Judith; Meininger, Vincent; Hardiman, Orla; Andersen, Peter M.; Leigh, Nigel P.; Glass, Jonathan D.; Overste, Daniel; Diekstra, Frank P.; Veldink, Jan H.; van Es, Michael A.; Shaw, Christopher E.; Weale, Michael E.; Lewis, Cathryn M.; Williams, Julie; Brown, Robert H.; Landers, John E.; Ticozzi, Nicola; Ceroni, Mauro; Pegoraro, Elena; Comi, Giacomo P.; D'Alfonso, Sandra; van den Berg, Leonard H.; Taroni, Franco; Al-Chalabi, Ammar; Powell, John; Silani, Vincenzo; Brescia Morra, Vincenzo; Filla, Alessandro; Massimo, Filosto; Marsili, Angela; Viviana, Pensato; Puorro, Giorgia; La Bella, Vincenzo; Logroscino, Giancarlo; Monsurrò, Maria Rosaria; Quattrone, Aldo; Simone, Isabella Laura; Ahmeti, Kreshnik B.; Ajroud-Driss, Senda; Armstrong, Jennifer; Birve, Anne; Blauw, Hylke M.; Bruijn, Lucie; Chen, Wenjie; Comeau, Mary C.; Cronin, Simon; Soraya, Gkazi Athina; Grab, Josh D.; Groen, Ewout J.; Haines, Jonathan L.; Heller, Scott; Huang, Jie; Hung, Wu-Yen; Jaworski, James M.; Khan, Humaira; Langefeld, Carl D.; Marion, Miranda C.; McLaughlin, Russell L.; Miller, Jack W.; Mora, Gabriele; Pericak-Vance, Margaret A.; Rampersaud, Evadnie; Siddique, Nailah; Siddique, Teepu; Smith, Bradley N.; Sufit, Robert; Topp, Simon; Vance, Caroline; van Vught, Paul; Yang, Yi; Zheng, J.G.

    2014-01-01

    Identification of mutations at familial loci for amyotrophic lateral sclerosis (ALS) has provided novel insights into the aetiology of this rapidly progressing fatal neurodegenerative disease. However, genome-wide association studies (GWAS) of the more common (∼90%) sporadic form have been less successful with the exception of the replicated locus at 9p21.2. To identify new loci associated with disease susceptibility, we have established the largest association study in ALS to date and undertaken a GWAS meta-analytical study combining 3959 newly genotyped Italian individuals (1982 cases and 1977 controls) collected by SLAGEN (Italian Consortium for the Genetics of ALS) together with samples from Netherlands, USA, UK, Sweden, Belgium, France, Ireland and Italy collected by ALSGEN (the International Consortium on Amyotrophic Lateral Sclerosis Genetics). We analysed a total of 13 225 individuals, 6100 cases and 7125 controls for almost 7 million single-nucleotide polymorphisms (SNPs). We identified a novel locus with genome-wide significance at 17q11.2 (rs34517613 with P = 1.11 × 10−8; OR 0.82) that was validated when combined with genotype data from a replication cohort (P = 8.62 × 10−9; OR 0.833) of 4656 individuals. Furthermore, we confirmed the previously reported association at 9p21.2 (rs3849943 with P = 7.69 × 10−9; OR 1.16). Finally, we estimated the contribution of common variation to heritability of sporadic ALS as ∼12% using a linear mixed model accounting for all SNPs. Our results provide an insight into the genetic structure of sporadic ALS, confirming that common variation contributes to risk and that sufficiently powered studies can identify novel susceptibility loci. PMID:24256812

  15. Fine scale mapping of the 17q22 breast cancer locus using dense SNPs, genotyped within the Collaborative Oncological Gene-Environment Study (COGs).

    Science.gov (United States)

    Darabi, Hatef; Beesley, Jonathan; Droit, Arnaud; Kar, Siddhartha; Nord, Silje; Moradi Marjaneh, Mahdi; Soucy, Penny; Michailidou, Kyriaki; Ghoussaini, Maya; Fues Wahl, Hanna; Bolla, Manjeet K; Wang, Qin; Dennis, Joe; Alonso, M Rosario; Andrulis, Irene L; Anton-Culver, Hoda; Arndt, Volker; Beckmann, Matthias W; Benitez, Javier; Bogdanova, Natalia V; Bojesen, Stig E; Brauch, Hiltrud; Brenner, Hermann; Broeks, Annegien; Brüning, Thomas; Burwinkel, Barbara; Chang-Claude, Jenny; Choi, Ji-Yeob; Conroy, Don M; Couch, Fergus J; Cox, Angela; Cross, Simon S; Czene, Kamila; Devilee, Peter; Dörk, Thilo; Easton, Douglas F; Fasching, Peter A; Figueroa, Jonine; Fletcher, Olivia; Flyger, Henrik; Galle, Eva; García-Closas, Montserrat; Giles, Graham G; Goldberg, Mark S; González-Neira, Anna; Guénel, Pascal; Haiman, Christopher A; Hallberg, Emily; Hamann, Ute; Hartman, Mikael; Hollestelle, Antoinette; Hopper, John L; Ito, Hidemi; Jakubowska, Anna; Johnson, Nichola; Kang, Daehee; Khan, Sofia; Kosma, Veli-Matti; Kriege, Mieke; Kristensen, Vessela; Lambrechts, Diether; Le Marchand, Loic; Lee, Soo Chin; Lindblom, Annika; Lophatananon, Artitaya; Lubinski, Jan; Mannermaa, Arto; Manoukian, Siranoush; Margolin, Sara; Matsuo, Keitaro; Mayes, Rebecca; McKay, James; Meindl, Alfons; Milne, Roger L; Muir, Kenneth; Neuhausen, Susan L; Nevanlinna, Heli; Olswold, Curtis; Orr, Nick; Peterlongo, Paolo; Pita, Guillermo; Pylkäs, Katri; Rudolph, Anja; Sangrajrang, Suleeporn; Sawyer, Elinor J; Schmidt, Marjanka K; Schmutzler, Rita K; Seynaeve, Caroline; Shah, Mitul; Shen, Chen-Yang; Shu, Xiao-Ou; Southey, Melissa C; Stram, Daniel O; Surowy, Harald; Swerdlow, Anthony; Teo, Soo H; Tessier, Daniel C; Tomlinson, Ian; Torres, Diana; Truong, Thérèse; Vachon, Celine M; Vincent, Daniel; Winqvist, Robert; Wu, Anna H; Wu, Pei-Ei; Yip, Cheng Har; Zheng, Wei; Pharoah, Paul D P; Hall, Per; Edwards, Stacey L; Simard, Jacques; French, Juliet D; Chenevix-Trench, Georgia; Dunning, Alison M

    2016-09-07

    Genome-wide association studies have found SNPs at 17q22 to be associated with breast cancer risk. To identify potential causal variants related to breast cancer risk, we performed a high resolution fine-mapping analysis that involved genotyping 517 SNPs using a custom Illumina iSelect array (iCOGS) followed by imputation of genotypes for 3,134 SNPs in more than 89,000 participants of European ancestry from the Breast Cancer Association Consortium (BCAC). We identified 28 highly correlated common variants, in a 53 Kb region spanning two introns of the STXBP4 gene, that are strong candidates for driving breast cancer risk (lead SNP rs2787486 (OR = 0.92; CI 0.90-0.94; P = 8.96 × 10(-15))) and are correlated with two previously reported risk-associated variants at this locus, SNPs rs6504950 (OR = 0.94, P = 2.04 × 10(-09), r(2) = 0.73 with lead SNP) and rs1156287 (OR = 0.93, P = 3.41 × 10(-11), r(2) = 0.83 with lead SNP). Analyses indicate only one causal SNP in the region and several enhancer elements targeting STXBP4 are located within the 53 kb association signal. Expression studies in breast tumor tissues found SNP rs2787486 to be associated with increased STXBP4 expression, suggesting this may be a target gene of this locus.

  16. [Distal clavicle fracture].

    Science.gov (United States)

    Seppel, G; Lenich, A; Imhoff, A B

    2014-06-01

    Reposition and fixation of unstable distal clavicle fractures with a low profile locking plate (Acumed, Hempshire, UK) in conjunction with a button/suture augmentation cerclage (DogBone/FibreTape, Arthrex, Naples, FL, USA). Unstable fractures of the distal clavicle (Jäger and Breitner IIA) in adults. Unstable fractures of the distal clavicle (Jäger and Breitner IV) in children. Distal clavicle fractures (Jäger and Breitner I, IIB or III) with marked dislocation, injury of nerves and vessels, or high functional demand. Patients in poor general condition. Fractures of the distal clavicle (Jäger and Breitner I, IIB or III) without marked dislocation or vertical instability. Local soft-tissue infection. Combination procedure: Initially the lateral part of the clavicle is exposed by a 4 cm skin incision. After reduction of the fracture, stabilization is performed with a low profile locking distal clavicle plate. Using a special guiding device, a transclavicular-transcoracoidal hole is drilled under arthroscopic view. Additional vertical stabilization is arthroscopically achieved by shuttling the DogBone/FibreTape cerclage from the lateral portal cranially through the clavicular plate. The two ends of the FibreTape cerclage are brought cranially via adjacent holes of the locking plate while the DogBone button is placed under the coracoid process. Thus, plate bridging is achieved. Finally reduction is performed and the cerclage is secured by surgical knotting. Use of an arm sling for 6 weeks. Due to the fact that the described technique is a relatively new procedure, long-term results are lacking. In the short term, patients postoperatively report high subjective satisfaction without persistent pain.

  17. Modeling Chromosomes

    Science.gov (United States)

    Robertson, Carol

    2016-01-01

    Learning about chromosomes is standard fare in biology classrooms today. However, students may find it difficult to understand the relationships among the "genome", "chromosomes", "genes", a "gene locus", and "alleles". In the simple activity described in this article, which follows the 5E approach…

  18. Chromosomal Conditions

    Science.gov (United States)

    ... and more. Stony Point, NY 10980 Close X Home > Complications & Loss > Birth defects & other health conditions > Chromosomal conditions Chromosomal conditions ... Disorders See also: Genetic counseling , Your family health history Last reviewed: February, 2013 ... labor & premature birth The newborn intensive care unit (NICU) Birth defects & ...

  19. Chromosome Territories

    OpenAIRE

    Cremer, Thomas; Cremer, Marion

    2010-01-01

    Chromosome territories (CTs) constitute a major feature of nuclear architecture. In a brief statement, the possible contribution of nuclear architecture studies to the field of epigenomics is considered, followed by a historical account of the CT concept and the final compelling experimental evidence of a territorial organization of chromosomes in all eukaryotes studied to date. Present knowledge of nonrandom CT arrangements, of the internal CT architecture, and of structural interactions wit...

  20. Distal finger replantation.

    Science.gov (United States)

    Scheker, Luis R; Becker, Giles W

    2011-03-01

    Reconstruction of the fingertip distal to the flexor tendon insertion by replantation remains controversial and technically challenging, but the anatomy of the fingertip has been well described and provides help in surgical planning. The open-book surgical technique is described with potential complications and is illustrated with clinical cases. Copyright © 2011 American Society for Surgery of the Hand. Published by Elsevier Inc. All rights reserved.

  1. Chromosomal aberration

    International Nuclear Information System (INIS)

    Ishii, Yutaka

    1988-01-01

    Chromosomal aberrations are classified into two types, chromosome-type and chromatid-type. Chromosom-type aberrations include terminal deletion, dicentric, ring and interstitial deletion, and chromatid-type aberrations include achromatic lesion, chromatid deletion, isochromatid deletion and chromatid exchange. Clastogens which induce chromosomal aberration are divided into ''S-dependent'' agents and ''S-independent''. It might mean whether they can induce double strand breaks independent of the S phase or not. Double strand breaks may be the ultimate lesions to induce chromosomal aberrations. Caffeine added even in the G 2 phase appeared to modify the frequency of chromatid aberrations induced by X-rays and mitomycin C. Those might suggest that the G 2 phase involves in the chromatid aberration formation. The double strand breaks might be repaired by ''G 2 repair system'', the error of which might yield breakage types of chromatid aberrations and the by-pass of which might yield chromatid exchanges. Chromosome-type aberrations might be formed in the G 1 phase. (author)

  2. Distal radioulnar joint injuries

    Directory of Open Access Journals (Sweden)

    Binu P Thomas

    2012-01-01

    Full Text Available Distal radioulnar joint is a trochoid joint relatively new in evolution. Along with proximal radioulnar joint , forearm bones and interosseous membrane, it allows pronosupination and load transmission across the wrist. Injuries around distal radioulnar joint are not uncommon, and are usually associated with distal radius fractures,fractures of the ulnar styloid and with the eponymous Galeazzi or Essex_Lopresti fractures. The injury can be purely involving the soft tissue especially the triangular fibrocartilage or the radioulnar ligaments.The patients usually present with ulnar sided wrist pain, features of instability, or restriction of rotation. Difficulty in carrying loads in the hand is a major constraint for these patients. Thorough clinical examination to localize point of tenderness and appropriate provocative tests help in diagnosis. Radiology and MRI are extremely useful, while arthroscopy is the gold standard for evaluation. The treatment protocols are continuously evolving and range from conservative, arthroscopic to open surgical methods. Isolated dislocation are uncommon. Basal fractures of the ulnar styloid tend to make the joint unstable and may require operative intervention. Chronic instability requires reconstruction of the stabilizing ligaments to avoid onset of arthritis. Prosthetic replacement in arthritis is gaining acceptance in the management of arthritis.

  3. Milestone Completion Report WBS 1.3.5.05 ECP/VTK-m FY17Q4 [MS-17/03-06] Key Reduce / Spatial Division / Basic Advect / Normals STDA05-4.

    Energy Technology Data Exchange (ETDEWEB)

    Moreland, Kenneth D. [Sandia National Lab. (SNL-NM), Albuquerque, NM (United States)

    2017-09-30

    The FY17Q4 milestone of the ECP/VTK-m project includes the completion of a key-reduce scheduling mechanism, a spatial division algorithm, an algorithm for basic particle advection, and the computation of smoothed surface normals. With the completion of this milestone, we are able to, respectively, more easily group like elements (a common visualization algorithm operation), provide the fundamentals for geometric search structures, provide the fundamentals for many flow visualization algorithms, and provide more realistic rendering of surfaces approximated with facets.

  4. Detection of recurrent transmission of 17q12 microdeletion by array comparative genomic hybridization in a fetus with prenatally diagnosed hydronephrosis, hydroureter, and multicystic kidney, and variable clinical spectrum in the family

    OpenAIRE

    Chih-Ping Chen; Shuenn-Dyh Chang; Tzu-Hao Wang; Liang-Kai Wang; Jeng-Daw Tsai; Yu-Peng Liu; Schu-Rern Chern; Peih-Shan Wu; Jun-Wei Su; Yu-Ting Chen; Wayseen Wang

    2013-01-01

    Objective: This study was aimed at detection of recurrent transmission of the 17q12 microdeletion in a fetus with congenital anomalies of the kidney and urinary tract. Materials and Methods: A 35-year-old woman was referred to the hospital at 20 weeks' gestation because of hydronephrosis in the fetus. The mother was normal and healthy. Her second child was a girl who had bilateral dysplastic kidneys that required hemodialysis, and died at the age of 5 years. During this pregnancy, the woma...

  5. Paternal isodisomy of chromosome 6 in association with a maternal supernumerary marker chromosome (6)

    Energy Technology Data Exchange (ETDEWEB)

    James, R.S.; Crolla, J.A.; Sitch, F.L. [Salisbury District Hospital, Wiltshire (United Kingdom)] [and others

    1994-09-01

    Uniparental disomy may arise by a number of different mechanisms of aneuploidy correction. A population that has been identified as being at increased risk of aneuploidy are those individuals bearing supernumerary marker chromosomes (SMCs). There have been a number of cases reported of trisomy 21 in association with bi-satellited marker chromosomes have described two individuals with small inv dup (15) markers. One had paternal isodisomy of chromosome 15 and Angelman syndrome. The other had maternal heterodisomy (15) and Prader-Willi syndrome. At the Wessex Regional Genetics Laboratory we have conducted a search for uniparental disomy of the normal homologues of the chromosomes from which SMCs originated. Our study population consists of 39 probands with SMCs originating from a number of different autosomes, including 17 with SMCs of chromosome 15 origin. Using PCR amplification of microsatellite repeat sequences located distal to the regions included in the SMCs we have determined the parental origin of the two normal homologues in each case. We have identified paternal isodisomy of chromosome 6 in a female child with a supernumerary marker ring chromosome 6 in approximately 70% of peripheral blood lymphocytes. The marker was found to be of maternal origin. This is the second case of paternal isodisomy of chromosome 6 to be reported, and the first in association with a SMC resulting in a partial trisomy for a portion of the short arm of chromosome 6. In spite of this, the patient appears to be functioning appropriately for her age.

  6. Distal corporoplasty for distal cylinders extrusion after penile prosthesis implantation.

    Science.gov (United States)

    Carrino, Maurizio; Chiancone, Francesco; Battaglia, Gaetano; Pucci, Luigi; Fedelini, Paolo

    2017-02-03

    Distal extrusion of cylinders is a potential complication of the penile prosthesis implantation. Several methods have been proposed for repairing a distal penile erosion. We present our preliminary experience in "Distal corporoplasty" technique. We enrolled 18 consecutive patients whose underwent a distal corporoplasty with simultaneous reimplantation of an "AMS 700 inflatable penile prosthesis (LGX)" from January 2013 to November 2015 at our hospital. All procedures were performed by a single surgical team. Intraoperative and postoperative complications have been classified and reported according to Satava6 and Clavien-Dindo (CD) system.7 Mean values with standard deviations (±SD) were computed and reported for all items. Mean age of the patients was 53.61 (±11.90) years. Mean body max index (BMI) was 24.22 (±2.51). Mean operative time was 85.2 (±13.1) minutes. Blood losses were minimal. No intraoperative complications are reported according to Satava classification. Four out of 18 patients (22.22%) experienced postoperative complications according to CD system. All patients had sexual intercourse for the first time postsurgery after a mean of 59.11 ± 2.08 days. Mean follow-up was 22.11 (±9.95). Distal extrusion of cylinders is a potential complication of the penile prosthesis implantation. Distal corporoplasty was first described by Mulcahy. He reported a series of 14 patients with a follow-up of about 2 years with optimal functional outcomes. Moreover, distal corporoplasty resulted in shorter operative time, better function, less pain, and fewer recurrences than Gortex windsock repair.10 In our experience, distal corporoplasty is a simple and safe procedure in the treatment of distal cylinders extrusion when the prosthetic material is not exposed to the exterior.

  7. Characterization and prognostic implication of 17 chromosome abnormalities in myelodysplastic syndrome.

    Science.gov (United States)

    Sánchez-Castro, Judit; Marco-Betés, Víctor; Gómez-Arbonés, Xavier; Arenillas, Leonor; Valcarcel, David; Vallespí, Teresa; Costa, Dolors; Nomdedeu, Benet; Jimenez, María José; Granada, Isabel; Grau, Javier; Ardanaz, María T; de la Serna, Javier; Carbonell, Félix; Cervera, José; Sierra, Adriana; Luño, Elisa; Cervero, Carlos J; Falantes, José; Calasanz, María J; González-Porrás, José R; Bailén, Alicia; Amigo, M Luz; Sanz, Guillermo; Solé, Francesc

    2013-07-01

    The prognosis of chromosome 17 (chr17) abnormalities in patients with primary myelodysplastic syndrome (MDS) remains unclear. The revised International Prognostic Scoring System (IPSS-R) includes these abnormalities within the intermediate cytogenetic risk group. This study assessed the impact on overall survival (OS) and risk of acute myeloid leukemia transformation (AMLt) of chr17 abnormalities in 88 patients with primary MDS. We have compared this group with 1346 patients with primary MDS and abnormal karyotype without chr17 involved. The alterations of chr17 should be considered within group of poor prognosis. The different types of alterations of chromosome 17 behave different prognosis. The study confirms the intermediate prognostic impact of the i(17q), as stated in IPSS-R. The results of the study, however, provide valuable new information on the prognostic impact of alterations of chromosome 17 in complex karyotypes. Copyright © 2013 Elsevier Ltd. All rights reserved.

  8. A 45 X male patient with 7q distal deletion and rearrangement with SRY gene translocation: a case report.

    Science.gov (United States)

    Bilen, S; Okten, A; Karaguzel, G; Ikbal, M; Aslan, Y

    2013-01-01

    Here we present a male newborn with multiple congenital anomalies who also has an extremely rare form of testicular disorder of sex development (DSD). His karyotype was 45X, without any mosaicism. SRY gene was positive by polymerase chain reaction (PCR), and rearranged on distal part of the 7th chromosome by fluorescence in situ hybridization (FISH) analysis. SRY, normally located on the Y chromosome, is the most important gene that plays a role in the development of male sex. SRY gen may be translocated onto another chromosome, mostly X chromosome in the XX testicular DSD. On the other hand very few cases of 45 X testicular DSD were published to date. Other clinical manifestations of our patient were compatible with distal 7 q deletion syndrome. To the best of our knowledge this is the first case of 45 X testicular DSD with SRY gene rearranged on the 7th autosomal chromosome.

  9. Convergence and divergence of tumor-suppressor and proto-oncogenes in chimpanzee from human chromosome 17

    Energy Technology Data Exchange (ETDEWEB)

    Verma, R.S.; Ramesh, K.H. [Long Island College Hospital, Brooklyn, NY (United States)

    1994-09-01

    Due to the emergence of molecular technology, the phylogenetic evolution of the human genome via apes has become a saltatory even. In the present investigation, cosmid probes for P53, Charcot-Marie-Tooth [CMTIA], HER-2/NEU and myeloperoxidase [MPO] were used. Probes mapping to these genetic loci are well-defined on human chromosome 17 [HSA 17]. We localized these genes on chimpanzee [Pan troglodyte] chromosomes by FISH technique employing two different cell lines. Our results indicate that chimpanzee chromosome 19 [PTR 19] differs from HSA 17 by a pericentric inversion. The P53 gene assigned to HSA 17p13.1 is localized on PTR 19p15 and the MPO sequence of HSA 17q21.3-23 hybridized to PTR 19q23. Perplexing enough, HER-2/NEU assigned to HSA 17q11.2 localized to PTR 19p12. Obviously, there is convergence of P53 and MPO regions and distinctive divergence of HER-2/NEU and CMT1A regions of human and chimpanzee. This investigation has demonstrated the pronounced genetic shuffling which occurred during the origin of HSA 17. Molecular markers should serve as evolutionary punctuations in defining the precise sequence of genetic events that led to the evolution of other chromosomes whose genomic synteny, although similar, have surprisingly evolved through different mechanisms.

  10. Reverse Distal Transverse Palmar Arch in Distal Digital Replantation.

    Science.gov (United States)

    Wei, Ching-Yueh; Orozco, Oscar; Vinagre, Gustavo; Shafarenko, Mark

    2017-11-01

    Refinements in microsurgery have made distal finger replantation an established technique with high success rates and good functional and aesthetic outcomes. However, it still represents a technically demanding procedure due to the small vessel caliber and frequent lack of vessel length, requiring the use of interpositional venous grafts in some instances. We describe a new technique for anastomosis in fingertip replantation, whereby the need for venous grafts is eliminated. Applying the reverse distal transverse palmar arch technique, 11 cases of distal digital replantation were performed between January 2011 and July 2016. The described procedure was used for arterial anastomosis in 10 cases and arteriovenous shunting for venous drainage in 1 case. A retrospective case review was conducted. The technical description and clinical outcome evaluations are presented. Ten of the 11 replanted digits survived, corresponding to an overall success rate of 91%. One replant failed due to venous insufficiency. Blood transfusions were not required for any of the patients. Follow-up (range, 1.5-5 months) revealed near-normal range of motion and good aesthetic results. All of the replanted digits developed protective sensation. The average length of hospital admission was 5 days. All patients were satisfied with the results and were able to return to their previous work. The use of the reverse distal transverse palmar arch is a novel and reliable technique in distal digital replantation when an increase in vessel length is required, allowing for a tension-free arterial repair without the need for vein grafts.

  11. The distal region of 11p13 and associated genetic diseases

    NARCIS (Netherlands)

    Mannens, M.; Hoovers, J. M.; Bleeker-Wagemakers, E. M.; Redeker, E.; Bliek, J.; Overbeeke-Melkert, M.; Saunders, G.; Williams, B.; van Heyningen, V.; Junien, C.

    1991-01-01

    The distal region of human chromosome band 11p13 is believed to contain a cluster of genes involved in the development of the eye, kidney, urogenital tract, and possibly the nervous system. Genetic abnormalities of this region can lead to Wilms tumor, aniridia, urogenital abnormalities, and mental

  12. Genetics Home Reference: 17q12 duplication

    Science.gov (United States)

    ... J, Li C, Roeder E, Cox S, Karaviti L, Pearson M, Kang SH, Sahoo T, Lalani SR, Stankiewicz ... genomic disorders from the duplication architecture of the human genome. Nat Genet. 2006 Sep;38(9):1038- ...

  13. Traumatic Distal Ulnar Artery Thrombosis

    Directory of Open Access Journals (Sweden)

    Ahmet A. Karaarslan

    2014-01-01

    Full Text Available This paper is about a posttraumatic distal ulnar artery thrombosis case that has occurred after a single blunt trauma. The ulnar artery thrombosis because of chronic trauma is a frequent condition (hypothenar hammer syndrome but an ulnar artery thrombosis because of a single direct blunt trauma is rare. Our patient who has been affected by a single blunt trauma to his hand and developed ulnar artery thrombosis has been treated by resection of the thrombosed ulnar artery segment. This report shows that a single blunt trauma can cause distal ulnar artery thrombosis in the hand and it can be treated merely by thrombosed segment resection in suitable cases.

  14. [Application of chromosome microarray analysis for fetuses with multicystic dysplastic kidney].

    Science.gov (United States)

    Chen, Feifei; Lei, Tingying; Fu, Fang; Li, Ru; Zhang, Yongling; Jing, Xiangyi; Yang, Xin; Han, Jin; Zhen, Li; Pan, Min; Liao, Can

    2016-12-10

    To explore the genetic etiology of fetuses with multicystic dysplastic kidney (MCDK) by chromosome microarray analysis (CMA). Seventy-two fetuses with MCDK were analyzed with conventional cytogenetic technique, among which 30 fetuses with a normal karyotype were subjected to CMA analysis with Affymetrix CytoScan HD arrays by following the manufacturer's protocol. The data was analyzed with ChAS software. Conventional cytogenetic technique has revealed three fetuses (4.2%) with identifiable chromosomal aberrations. CMA analysis has detected pathogenic CNVs in 5 fetuses (16.7%), which included two well-known microdeletion or microduplication syndromes, i.e., 17q12 microdeletion syndrome and Williams-Beuren syndrome (WBS) and three submicroscopic imbalances at 4q35.2, 22q13.33, and 1p33. PEX26, FKBP6, TUBGCP6, ALG12, and CYP4A11 are likely the causative genes. CMA can identify the submicroscopic imbalances unidentifiable by conventional cytogenetic technique, and therefore has a significant role in prenatal diagnosis and genetic counseling. The detection rate of pathogenic CNVs in fetuses with MCDK was 16.7% by CMA. 17q12 microdeletion syndrome and WBS are associated with MCDK. Mutations of PEX26, FKBP6, TUBGCP6, ALG12, and CYP4A11 genes may be the causes for MCDK.

  15. Distal protection in cardiovascular medicine: current status.

    Science.gov (United States)

    Ali, Onn Akbar; Bhindi, Ravinay; McMahon, Aisling C; Brieger, David; Kritharides, Leonard; Lowe, Harry C

    2006-08-01

    Iatrogenic and spontaneous downstream microembolization of atheromatous material is increasingly recognized as a source of cardiovascular morbidity and mortality. Devising ways of reducing this distal embolization using a variety of mechanical means--distal protection--is currently under intense and diverse investigation. This review therefore summarizes the present status of distal protection. It examines the problem of distal embolization, describes the available distal protection devices, reviews those areas of cardiovascular medicine where distal protection devices are being investigated, and discusses potential future developments.

  16. Genome-wide detection of chromosomal rearrangements, indels, and mutations in circular chromosomes by short read sequencing

    DEFF Research Database (Denmark)

    Skovgaard, Ole; Bak, Mads; Løbner-Olesen, Anders

    2011-01-01

    a combination of WGS and genome copy number analysis, for the identification of mutations that suppress the growth deficiency imposed by excessive initiations from the Escherichia coli origin of replication, oriC. The E. coli chromosome, like the majority of bacterial chromosomes, is circular, and DNA...... replication is initiated by assembling two replication complexes at the origin, oriC. These complexes then replicate the chromosome bidirectionally toward the terminus, ter. In a population of growing cells, this results in a copy number gradient, so that origin-proximal sequences are more frequent than...... origin-distal sequences. Major rearrangements in the chromosome are, therefore, readily identified by changes in copy number, i.e., certain sequences become over- or under-represented. Of the eight mutations analyzed in detail here, six were found to affect a single gene only, one was a large chromosomal...

  17. Fetal chromosome analysis: screening for chromosome disease?

    DEFF Research Database (Denmark)

    Philip, J; Tabor, Ann; Bang, J

    1983-01-01

    The aim of the study was to investigate the rationale of the current indications for fetal chromosome analysis. 5372 women had 5423 amniocentesis performed, this group constituting a consecutive sample at the chromosome laboratory, Rigshospitalet, Copenhagen from March 1973 to September 1980 (Group...... A + B). Pregnant women 35 years of age, women who previously had a chromosomally abnormal child, families with translocation carriers or other heritable chromosomal disease, families where the father was 50 years or more and women in families with a history of Down's syndrome (group A), were compared...... to women having amniocentesis, although considered not to have any increased risk of fetal chromosome abnormality (1390 pregnancies, group B). They were also compared with 750 consecutive pregnancies in women 25-34 years of age, in whom all heritable diseases were excluded (group C). The risk of unbalanced...

  18. Milestone Completion Report WBS 1.3.5.05 ECP/VTK-m FY17Q2 [MS-17/01] Better Dynamic Types Design SDA05-1

    Energy Technology Data Exchange (ETDEWEB)

    Moreland, Kenneth D.

    2017-04-01

    The FY17Q2 milestone of the ECP/VTK-m project, which is the first milestone, includes the completion of design documents for the introduction of virtual methods into the VTK-m framework. Specifically, the ability from within the code of a device (e.g. GPU or Xeon Phi) to jump to a virtual method specified at run time. This change will enable us to drastically reduce the compile time and the executable code size for the VTK-m library. Our first design introduced the idea of adding virtual functions to classes that are used during algorithm execution. (Virtual methods were previously banned from the so called execution environment.) The design was straightforward. VTK-m already has the generic concepts of an “array handle” that provides a uniform interface to memory of different structures and an “array portal” that provides generic access to said memory. These array handles and portals use C++ templating to adjust them to different memory structures. This composition provides a powerful ability to adapt to data sources, but requires knowing static types. The proposed design creates a template specialization of an array portal that decorates another array handle while hiding its type. In this way we can wrap any type of static array handle and then feed it to a single compiled instance of a function. The second design focused on the mechanics of implementing virtual methods on parallel devices with a focus on CUDA. Our initial experiments on CUDA showed a very large overhead for using virtual C++ classes with virtual methods, the standard approach. Instead, we are using an alternate method provided by C that uses function pointers. With the completion of this milestone, we are able to move to the implementation of objects with virtual (like) methods. The upshot will be much faster compile times and much smaller library/executable sizes.

  19. Molecular cytogenetic analysis and clinical manifestations of a case with de novo mosaic ring chromosome 7

    Directory of Open Access Journals (Sweden)

    Fang Jye-Siung

    2011-02-01

    Full Text Available Abstract Aim Clinical and molecular cytogenetic investigations of a newborn girl exhibiting facial dysmorphism with developmental delay. Methods Phenotypic evaluation was first applied to examine the proband's developmental status. Computed tomography and colour transcranial Doppler were used then to investigate her brain structure and function. Subsequently, chromosomal abnormalities were examined by karyotyping and fluorescent in situ hybridization was performed to investigate size of fragments lost at the two distal ends of the ring chromosome 7. In addition, multicolour banding was applied to rule out structural rearrangement occurs in between the ring chromosome 7. Results The proband was born with mosaic supernumerary ring chromosome 7, without a normal karyotype detected in the peripheral blood lymphocytes. The distal arm of chromosome 7p (at least 255 kb from the telomere was part of an extra ring chromosome 7. In addition, the distal arm of 7q, at least 8 kb from the telomere, was missing. There was no other chromosomal rearrangement detected by multicolour banding. Interpretation This is the 19th reported case of complete ring chromosome 7 mosaicism and the first survived case with mosaic supernumerary ring 7 without a normal karyotype detected in the peripheral lymphocytes.

  20. Chromosome painting in plants.

    NARCIS (Netherlands)

    Schubert, I.; Fransz, P.F.; Fuchs, J.; Jong, de J.H.

    2001-01-01

    The current 'state-of-art' as to chromosome painting in plants is reviewed. We define different situations described as painting so far: i) Genomic in situ hybridisation (GISH) with total genomic DNA to distinguish alien chromosomes on the basis of divergent dispersed repeats, ii) 'Chromosomal in

  1. Spleen-preserving distal pancreatectomy in trauma.

    Science.gov (United States)

    Schellenberg, Morgan; Inaba, Kenji; Cheng, Vincent; Bardes, James M; Lam, Lydia; Benjamin, Elizabeth; Matsushima, Kazuhide; Demetriades, Demetrios

    2018-01-01

    Traumatic injuries to the distal pancreas are infrequent. Universally accepted recommendations about the need for routine splenectomy with distal pancreatectomy do not exist. The aims of this study were to compare outcomes after distal pancreatectomy and splenectomy versus spleen-preserving distal pancreatectomy, and to define the appropriate patient population for splenic preservation. All patients who underwent distal pancreatectomy (January 1, 2007, to December 31, 2014) were identified from the National Trauma Data Bank. Patients with concomitant splenic injury and those who underwent partial splenectomy were excluded. Demographics, clinical data, procedures, and outcomes were collected. Study groups were defined by surgical procedure: distal pancreatectomy and splenectomy versus spleen-preserving distal pancreatectomy. Baseline characteristics between groups were compared with univariate analysis. Multivariate analysis was performed with logistic and linear regression to examine differences in outcomes. Over the 8-year study period, 2,223 patients underwent distal pancreatectomy. After excluding 1,381 patients with concomitant splenic injury (62%) and 8 (pancreatectomy and splenectomy, those who underwent spleen-preserving distal pancreatectomy were younger (p pancreatectomy (p = 0.017). Complications, mortality, and intensive care unit LOS were not significantly different. In young patients after blunt trauma who are not severely injured, a spleen-preserving distal pancreatectomy should be considered to allow for conservation of splenic function and a shorter hospital LOS. In all other patients, the surgeon should not hesitate to remove the spleen with the distal pancreas. Therapy, level IV.

  2. Bloom syndrome and maternal uniparental disomy for chromosome 15

    Energy Technology Data Exchange (ETDEWEB)

    Woodage, T.; Prasad, M.; Trent, R.J.; Smith, A. (Children' s Hospital, Camperdown, New South Wales (New Zealand)); Dixon, J.W.; Romain, D.R.; Columbano-Green, L.M.; Selby, R.E. (Wellington Hospital (New Zealand)); Graham, D. (Waikato Hospital, Hamilton (New Zealand)); Rogan, P.K. (Pennsylvania State Univ., Hershey, PA (United States)) (and others)

    1994-07-01

    Bloom syndrome (BS) is an autosomal recessive disorder characterized by increases in the frequency of sister-chromatid exchange and in the incidence of malignancy. Chromosome-transfer studies have shown the BS locus to map to chromosome 15q. This report describes a subject with features of both BS and Prader-Willi syndrome (PWS). Molecular analysis showed maternal uniparental disomy for chromosome 15. Meiotic recombination between the two disomic chromosomes 15 has resulted in heterodisomy for proximal 15q and isodisomy for distal 15q. In this individual BS is probably due to homozygosity for a gene that is telomeric to D15S95 (15q25), rather than to genetic imprinting, the mechanism responsible for the development of PWS. This report represents the first application of disomy analysis to the regional localization of a disease gene. This strategy promises to be useful in the genetic mapping of other uncommon autosomal recessive conditions. 37 refs., 3 figs., 2 tabs.

  3. Distribution of X-ray induced chromosome rearrangement breaks along the polytene chromosomes of Anopheles messeae

    International Nuclear Information System (INIS)

    Pleshkova, G.N.

    1983-01-01

    Distribution of chromosomal aberrations localization along polytene chromosomes (aoutosomes) of salivary glands of malarial mosquito. Anopheles messeae is presented. Induced aberrations in F 1 posterity from X-ray irradiated fecundated females are studied. Poipts of breaks of inversions and trapslocations are localized separately. There are no considerable dif-- ferences in the distribution character of two types of aberrations. Over the length of autosomes the breaks are more frequent in distal halves, their frequency in proximal parts anally in near centromeric regions of chromosomes is reduced. Concentration of breaks in certain ''hot points'' of the chromosomes is pointed out. Comparison of distribution of actual and expected frequencies of break points according to chi 2 criterion revealed highly fiducial discrepancies, testifying to uneven participation of different regions of chromosomes in aberration formation. Similarities and differences of the data obtained from analogous ones, demonstrated in Drosophila, as well as possible reasons for the distribution unevennes are discussed. On the basis of analysis of intrinsic and literature data a supposition is made that the ''hot points'' (break concentrations) can be considered as localizaion markers of intercalary heterochromatin

  4. Chromosome survey for children of A-bomb survivors

    International Nuclear Information System (INIS)

    Awa, Akio

    1992-01-01

    To investigate chromosomes from children of A-bomb survivors, cytogenetic survey has been started in 1967 by the ABCC and completed in 1985 by the succeeding RERF. This paper is designed to overview the cytogenetic survey and to discuss the cytogenetic effects of A-bomb radiation. A cohort of 16,298 children of A-bomb survivors, which were collected from mortality survey population in 1974, was enrolled in this survey and was divided into two groups: the proximally exposed group (n=8,322, whose parents exposed to estimated doses of 0.01 Gy or more within 2,000 m from the hypocenter) and the distally exposed group (n=7,976, those exposed to 0.005 Gy or less far from 2,500 m or not in the city). Three chromosomal aberrations were identified: sex chromosome aberrations consisting mainly of XYY, XXY, and mosaic; structural abnormality of autosomes consisting mainly of translocation and inversion; and trisomy of autosomes. Overall, the incidence of chromosomal aberrations was higher in the distally exposed group (6.39%) than the proximally exposed group (5.17%). According to the type of chromosomal aberrations, the incidences of both sex chromosomes and structural abnormality of autosomes were slightly higher in the distally exposed group (0.30% and 0.34%) than the proximally exposed group (0.23% and 0.28%). Trisomy of autosomes was identified in only one child in the proximally exposed group. These findings failed to demonstrate the rationale for the cytogenetic effects of A-bomb radiation; however, cytogenetic risk of radiation has not been denied completely. (N.K.)

  5. Chromosomal Evolution in Chiroptera.

    Science.gov (United States)

    Sotero-Caio, Cibele G; Baker, Robert J; Volleth, Marianne

    2017-10-13

    Chiroptera is the second largest order among mammals, with over 1300 species in 21 extant families. The group is extremely diverse in several aspects of its natural history, including dietary strategies, ecology, behavior and morphology. Bat genomes show ample chromosome diversity (from 2n = 14 to 62). As with other mammalian orders, Chiroptera is characterized by clades with low, moderate and extreme chromosomal change. In this article, we will discuss trends of karyotypic evolution within distinct bat lineages (especially Phyllostomidae, Hipposideridae and Rhinolophidae), focusing on two perspectives: evolution of genome architecture, modes of chromosomal evolution, and the use of chromosome data to resolve taxonomic problems.

  6. Chromosomal Evolution in Chiroptera

    Directory of Open Access Journals (Sweden)

    Cibele G. Sotero-Caio

    2017-10-01

    Full Text Available Chiroptera is the second largest order among mammals, with over 1300 species in 21 extant families. The group is extremely diverse in several aspects of its natural history, including dietary strategies, ecology, behavior and morphology. Bat genomes show ample chromosome diversity (from 2n = 14 to 62. As with other mammalian orders, Chiroptera is characterized by clades with low, moderate and extreme chromosomal change. In this article, we will discuss trends of karyotypic evolution within distinct bat lineages (especially Phyllostomidae, Hipposideridae and Rhinolophidae, focusing on two perspectives: evolution of genome architecture, modes of chromosomal evolution, and the use of chromosome data to resolve taxonomic problems.

  7. Sex reversal in the mouse (Mus musculus) is caused by a recurrent nonreciprocal crossover involving the x and an aberrant y chromosome.

    Science.gov (United States)

    Singh, L; Jones, K W

    1982-02-01

    Satellite DNA (Bkm) from the W sex-determining chromosome of snakes, which is related to sequences on the mouse Y chromosome, has been used to analyze the DNA and chromosomes of sex-reversed (Sxr) XXSxr male mice. Such mice exhibit a male-specific Southern blot Bkm hybridization pattern, consistent with the presence of Y-chromosome DNA. In situ hybridization of Bkm to chromosomes of XXSxr mice shows an aberrant concentration of related sequences on the distal terminus of a large mouse chromosome. The XYSxr carrier male, however, shows a pair of small chromosomes, which are presumed to be aberrant Y derivatives. Meiosis in the XYSxr mouse involves transfer of chromatin rich in Bkm-related DNA from the Y-Y1 complex to the X distal terminus. We suggest that this event is responsible for the transmission of the Sxr trait.

  8. Chromosomal Changes in relation to Clinical Outcome in Larynx and Pharynx Squamous Cell Carcinoma

    Directory of Open Access Journals (Sweden)

    Mario Hermsen

    2005-01-01

    Full Text Available Invasive head and neck squamous carcinomas are among the cytogenetically most complex tumors. Perhaps for this reason, there is little consensus on the prognostic value of specific chromosomal aberrations. Here we present Results of CGH analysis of 56 clinically well-characterized set of head and neck cancers, consisting of larynx and pharynx only. The aim was to find possible associations with clinical outcome. The major chromosome arms showing gains were (in decreasing order: 3q, 7q, 8q, 5p, 11q13, 17q and 18p, and losses occurred at 3p, 11qter, 4p, 18q, and 5q. The segments most frequently amplified were 3q26-qter, 11q13, 11q22, 3q12–13, 18p11.3, 18q11.2 and 8q24.3. Tumors with stages III and IV, and lymph node positive tumors had a worse clinical outcome. Surprisingly, no specific chromosomal abnormality correlated with disease-free survival. The only aberration that correlated to one of the clinico-pathological parameters was amplification 11q13, that occurred solely in lymph node positive, stage IV tumors. However 11q13 amplification did not correlate with disease-free survival. These Results seem to indicate that genetic alterations at the level of chromosomes have limited prognostic value in patients with invasive larynx and pharynx squamous cell carcinomas.

  9. Frequent Chromosome Aberrations Revealed by Molecular Cytogenetic Studies in Patients with Aniridia

    OpenAIRE

    Crolla, John A.; van Heyningen, Veronica

    2002-01-01

    Seventy-seven patients with aniridia, referred for cytogenetic analysis predominantly to assess Wilms tumor risk, were studied by fluorescence in situ hybridization (FISH), through use of a panel of cosmids encompassing the aniridia-associated PAX6 gene, the Wilms tumor predisposition gene WT1, and flanking markers, in distal chromosome 11p13. Thirty patients were found to be chromosomally abnormal. Cytogenetically visible interstitial deletions involving 11p13 were found in 13 patients, 11 o...

  10. Posttraumatic osteolysis of the distal clavicula end

    International Nuclear Information System (INIS)

    Hermanns, P.H.; Beeger, R.; Koetter, D.; Hamburg Univ.

    1981-01-01

    Posttraumatic osteolysis of bone is rare. Its etiology is unknown. A case of posttraumatic osteolysis of the distal clavicle end is reported. Differentialdiagnostical and ethiological relations are discussed. The literature of posttraumatic osteolysis especially of distal clavicle osteolysis is reported. (orig.) [de

  11. Contemporary Management of Primary Distal Urethral Cancer

    NARCIS (Netherlands)

    Traboulsi, S.L.; Witjes, J.A.; Kassouf, W.

    2016-01-01

    Primary urethral cancer is one of the rare urologic tumors. Distal urethral tumors are usually less advanced at diagnosis compared with proximal tumors and have a good prognosis if treated appropriately. Low-stage distal tumors can be managed successfully with a surgical approach in men or radiation

  12. Discrimination of chromosome by autoradiography

    International Nuclear Information System (INIS)

    Masubuchi, Masanori

    1975-01-01

    This paper describes discrimination of chromosome by autoradiography. In this method, the difference in DNA synthetic phase between each chromosome was used as a standard, and the used chromosome was in metaphase, as morphological characteristics were markedly in this phase. Cell cycle and autoradiography with 3 H-thymidine were also examined. In order to discriminate chromosome by autoradiography, it was effective to utilize the labelled pattern in late DNA synthetic phase, where asynchronous replication of chromosome appeared most obviously. DNA synthesis in chromosome was examined in each DNA synthetic phase by culturing the chromosome after the treatment with 3 H-thymidine and altering the time to prepare chromosome specimen. Discrimination of chromosome in plants and animals by autoradiography was also mentioned. It was noticed as a structural and functional discrimination of chromosome to observe amino acid uptake into chromosome protein and to utilize the difference in labelled pattern between the sites of chromosome. (K. Serizawa)

  13. Fetal chromosome analysis

    DEFF Research Database (Denmark)

    Philip, J; Tabor, A; Bang, J

    1983-01-01

    The aim of the study was to investigate the rationale of the current indications for fetal chromosome analysis. 5372 women had 5423 amniocentesis performed, this group constituting a consecutive sample at the chromosome laboratory, Rigshospitalet, Copenhagen from March 1973 to September 1980 (Group...... A + B). Pregnant women 35 years of age, women who previously had a chromosomally abnormal child, families with translocation carriers or other heritable chromosomal disease, families where the father was 50 years or more and women in families with a history of Down's syndrome (group A), were compared...... to women having amniocentesis, although considered not to have any increased risk of fetal chromosome abnormality (1390 pregnancies, group B). They were also compared with 750 consecutive pregnancies in women 25-34 years of age, in whom all heritable diseases were excluded (group C). The risk of unbalanced...

  14. CHROMOSOMES OF WOODY SPECIES

    Directory of Open Access Journals (Sweden)

    Julio R Daviña

    2000-01-01

    Full Text Available Chromosome numbers of nine subtropical woody species collected in Argentina and Paraguay are reported. The counts tor Coutarea hexandra (2n=52, Inga vera subsp. affinis 2n=26 (Fabaceae and Chorisia speciosa 2n=86 (Bombacaceae are reported for the first time. The chromosome number given for Inga semialata 2n=52 is a new cytotype different from the previously reported. Somatic chromosome numbers of the other taxa studied are: Sesbania punicea 2n=12, S. virgata 2n=12 and Pilocarpus pennatifolius 2n=44 from Argentina

  15. The mating-type chromosome in the filamentous ascomycete Neurospora tetrasperma represents a model for early evolution of sex chromosomes.

    Directory of Open Access Journals (Sweden)

    Audrius Menkis

    2008-03-01

    Full Text Available We combined gene divergence data, classical genetics, and phylogenetics to study the evolution of the mating-type chromosome in the filamentous ascomycete Neurospora tetrasperma. In this species, a large non-recombining region of the mating-type chromosome is associated with a unique fungal life cycle where self-fertility is enforced by maintenance of a constant state of heterokaryosis. Sequence divergence between alleles of 35 genes from the two single mating-type component strains (i.e. the homokaryotic mat A or mat a-strains, derived from one N. tetrasperma heterokaryon (mat A+mat a, was analyzed. By this approach we were able to identify the boundaries and size of the non-recombining region, and reveal insight into the history of recombination cessation. The non-recombining region covers almost 7 Mbp, over 75% of the chromosome, and we hypothesize that the evolution of the mating-type chromosome in this lineage involved two successive events. The first event was contemporaneous with the split of N. tetrasperma from a common ancestor with its outcrossing relative N. crassa and suppressed recombination over at least 6.6 Mbp, and the second was confined to a smaller region in which recombination ceased more recently. In spite of the early origin of the first "evolutionary stratum", genealogies of five genes from strains belonging to an additional N. tetrasperma lineage indicate independent initiations of suppressed recombination in different phylogenetic lineages. This study highlights the shared features between the sex chromosomes found in the animal and plant kingdoms and the fungal mating-type chromosome, despite fungi having no separate sexes. As is often found in sex chromosomes of plants and animals, recombination suppression of the mating-type chromosome of N. tetrasperma involved more than one evolutionary event, covers the majority of the mating-type chromosome and is flanked by distal regions with obligate crossovers.

  16. Chromosomal abnormalities and autism

    Directory of Open Access Journals (Sweden)

    Farida El-Baz

    2016-01-01

    Conclusion: Chromosomal abnormalities were not detected in the studied autistic children, and so the relation between the genetics and autism still needs further work up with different study methods and techniques.

  17. Chromosome condensation and segmentation

    International Nuclear Information System (INIS)

    Viegas-Pequignot, E.M.

    1981-01-01

    Some aspects of chromosome condensation in mammalians -humans especially- were studied by means of cytogenetic techniques of chromosome banding. Two further approaches were adopted: a study of normal condensation as early as prophase, and an analysis of chromosome segmentation induced by physical (temperature and γ-rays) or chemical agents (base analogues, antibiotics, ...) in order to show out the factors liable to affect condensation. Here 'segmentation' means an abnormal chromosome condensation appearing systematically and being reproducible. The study of normal condensation was made possible by the development of a technique based on cell synchronization by thymidine and giving prophasic and prometaphasic cells. Besides, the possibility of inducing R-banding segmentations on these cells by BrdU (5-bromodeoxyuridine) allowed a much finer analysis of karyotypes. Another technique was developed using 5-ACR (5-azacytidine), it allowed to induce a segmentation similar to the one obtained using BrdU and identify heterochromatic areas rich in G-C bases pairs [fr

  18. Cytogenetic and molecular studies on a recombinant human X chromosome: implications for the spreading of X chromosome inactivation

    International Nuclear Information System (INIS)

    Mohandas, T.; Geller, R.L.; Yen, P.H.; Rosendorff, J.; Bernstein, R.; Yoshida, A.; Shapiro, L.J.

    1987-01-01

    A pericentric inversion of human X chromosome and a recombinant X chromosome [rec(X)] derived from crossing-over within the inversion was identified in a family. The rec(X) had a duplication of the segment Xq26.3 → Xqter and a deletion of Xp22.3 → Xpter and was interpreted to be Xqter → Xq26.3::Xp22.3 → Xqter. To characterize the rec(X) chromosome, dosage blots were done on genomic DNA from carriers of this rearranged X chromosome using a number of X chromosome probes. Results showed that anonymous sequences from the distal end of the long arm to which probes 4D8, Hx120A, DX13, and St14 bind as well as the locus for glucose-6-phosphate dehydrogenase (G6PD) wee duplicated on the rec(X). Mouse-human cell hybrids were constructed that retained the rec(X) in the active or inactive state. Analyses of these hybrid clones for markers from the distal short arm of the X chromosome showed that the rec(X) retained the loci for steroid sulfatase (STS) and the cell surface antigen 12E7 (MIC2); but not the pseudoautosomal sequence 113D. These molecular studies confirm that the rec(X) is a duplication-deficiency chromosome as expected. In the inactive state in cell hybrids, STS and MIC2 (which usually escape X chromosome inactivation) were expressed from the rec(X), whereas G6PD was not. Therefore, in the rec(X) X chromosome inactivation has spread through STS and MIC2 leaving these loci unaffected and has inactivated G6PD in the absence of an inactivation center in the q26.3 → qter region of the human X chromosome. The mechanism of spreading of inactivation appears to operate in a sequence-specific fashion. Alternatively, STS and MIC2 may have undergone inactivation initially but could not be maintained in an inactive state

  19. Chromosomal Evolution in Chiroptera

    OpenAIRE

    Sotero-Caio, Cibele G.; Baker, Robert J.; Volleth, Marianne

    2017-01-01

    Chiroptera is the second largest order among mammals, with over 1300 species in 21 extant families. The group is extremely diverse in several aspects of its natural history, including dietary strategies, ecology, behavior and morphology. Bat genomes show ample chromosome diversity (from 2n = 14 to 62). As with other mammalian orders, Chiroptera is characterized by clades with low, moderate and extreme chromosomal change. In this article, we will discuss trends of karyotypic evolution within d...

  20. Y chromosome gr/gr deletions are a risk factor for low semen quality

    NARCIS (Netherlands)

    Visser, L.; Westerveld, G. H.; Korver, C. M.; van Daalen, S. K. M.; Hovingh, S. E.; Rozen, S.; van der Veen, F.; Repping, S.

    2009-01-01

    Subfertility affects one in eight couples. In up to 50% of cases, the male partner has low semen quality. Four Y chromosome deletions, i.e. Azoospermia factor a (AZFa), P5/proximal-P1 (AZFb), P5/distal-P1 and AZFc deletions, are established causes of low semen quality. Whether a recently identified

  1. Conceptualizing distal drivers in land use competition

    DEFF Research Database (Denmark)

    Niewhöner, Jörg; Nielsen, Jonas Ø; Gasparri, Gasparri

    2016-01-01

    This introductory chapter explores the notion of ‘distal drivers’ in land use competition. Research has moved beyond proximate causes of land cover and land use change to focus on the underlying drivers of these dynamics. We discuss the framework of telecoupling within human–environment systems...... as a first step to come to terms with the increasingly distal nature of driving forces behind land use practices. We then expand the notion of distal as mainly a measure of Euclidian space to include temporal, social, and institutional dimensions. This understanding of distal widens our analytical scope...... for the analysis of land use competition as a distributed process to consider the role of knowledge and power, technology, and different temporalities within a relational or systemic analysis of practices of land use competition. We conclude by pointing toward the historical and social contingency of land use...

  2. Distal technologies and type 1 diabetes management.

    Science.gov (United States)

    Duke, Danny C; Barry, Samantha; Wagner, David V; Speight, Jane; Choudhary, Pratik; Harris, Michael A

    2018-02-01

    Type 1 diabetes requires intensive self-management to avoid acute and long-term health complications. In the past two decades, substantial advances in technology have enabled more effective and convenient self-management of type 1 diabetes. Although proximal technologies (eg, insulin pumps, continuous glucose monitors, closed-loop and artificial pancreas systems) have been the subject of frequent systematic and narrative reviews, distal technologies have received scant attention. Distal technologies refer to electronic systems designed to provide a service remotely and include heterogeneous systems such as telehealth, mobile health applications, game-based support, social platforms, and patient portals. In this Review, we summarise the empirical literature to provide current information about the effectiveness of available distal technologies to improve type 1 diabetes management. We also discuss privacy, ethics, and regulatory considerations, issues of global adoption, knowledge gaps in distal technology, and recommendations for future directions. Copyright © 2018 Elsevier Ltd. All rights reserved.

  3. Genetics Home Reference: distal arthrogryposis type 1

    Science.gov (United States)

    ... 1 is a disorder characterized by joint deformities (contractures) that restrict movement in the hands and feet. ... distal arthrogryposis type 1 . However, researchers speculate that contractures may be related to problems with muscle contraction ...

  4. Potassium secretion in mammalian distal colon

    DEFF Research Database (Denmark)

    Sørensen, Mads Vaarby

    2009-01-01

    Epithelial organs adjust the „inner milieu“ of the body and are crucial for all homeostatic processes. Epithelial transport of different solutes and water is regulated phenomena. The regulation processes include both long term hormonal regulation and short term local agonist mediated regulation....... This research project is the summary of 3 original papers addressing the functional role of different regulating factors on ion transport in mouse distal colon. The first paper addresses the effect of luminal nucleotides on electrogenic Na+ absorption. The distal colon, like the distal nephron is an aldosterone......-sensitive tissue and participates in the regulation of Na+ excretion. In the distal nephron it was found that luminal nucleotides inhibit ENaC-mediated Na+ absorption. Here it was addressed whether luminal nucleotides regulate Na+ absorption and if so, which of the known luminal P2 receptors are involved. Using...

  5. Micromechanics of human mitotic chromosomes

    International Nuclear Information System (INIS)

    Sun, Mingxuan; Kawamura, Ryo; Marko, John F

    2011-01-01

    Eukaryote cells dramatically reorganize their long chromosomal DNAs to facilitate their physical segregation during mitosis. The internal organization of folded mitotic chromosomes remains a basic mystery of cell biology; its understanding would likely shed light on how chromosomes are separated from one another as well as into chromosome structure between cell divisions. We report biophysical experiments on single mitotic chromosomes from human cells, where we combine micromanipulation, nano-Newton-scale force measurement and biochemical treatments to study chromosome connectivity and topology. Results are in accord with previous experiments on amphibian chromosomes and support the 'chromatin network' model of mitotic chromosome structure. Prospects for studies of chromosome-organizing proteins using siRNA expression knockdowns, as well as for differential studies of chromosomes with and without mutations associated with genetic diseases, are also discussed

  6. Normal distal pulmonary vein anatomy

    Directory of Open Access Journals (Sweden)

    Wiesława Klimek-Piotrowska

    2016-01-01

    Full Text Available Background. It is well known that the pulmonary veins (PVs, especially their myocardial sleeves play a critical role in the initiation and maintenance of atrial fibrillation. Understanding the PV anatomy is crucial for the safety and efficacy of all procedures performed on PVs. The aim of this study was to present normal distal PV anatomy and to create a juxtaposition of all PV ostium variants.Methods. A total of 130 randomly selected autopsied adult human hearts (Caucasian were examined. The number of PVs ostia was evaluated and their diameter was measured. The ostium-to-last-tributary distance and macroscopic presence of myocardial sleeves were also evaluated.Results. Five hundred forty-one PV ostia were identified. Four classical PV ostia patterns (two left and two right PVs were observed in 70.8% of all cases. The most common variant was the classical pattern with additional middle right PV (19.2%, followed by the common ostium for the left superior and the inferior PVs (4.44%. Mean diameters of PV ostia (for the classical pattern were: left superior = 13.8 ± 2.9 mm; left inferior = 13.3 ± 3.4 mm; right superior = 14.3 ± 2.9 mm; right inferior = 13.7 ± 3.3 mm. When present, the additional middle right PV ostium had the smallest PV ostium diameter in the heart (8.2 ± 4.1 mm. The mean ostium-to-last-tributary (closest to the atrium distances were: left superior = 15.1 ± 4.6 mm; left inferior = 13.5 ± 4.0 mm; right superior = 11.8 ± 4.0 mm; right inferior = 11.0 ± 3.7 mm. There were no statistically significant differences between sexes in ostia diameters and ostium-to-last-tributary distances.Conclusion. Only 71% of the cases have four standard pulmonary veins. The middle right pulmonary vein is present in almost 20% of patients. Presented data can provide useful information for the clinicians during interventional procedures or radiologic examinations of PVs.

  7. Genomic imbalances in 5918 malignant epithelial tumors: an explorative meta-analysis of chromosomal CGH data

    International Nuclear Information System (INIS)

    Baudis, Michael

    2007-01-01

    Chromosomal abnormalities have been associated with most human malignancies, with gains and losses on some genomic regions associated with particular entities. Of the 15429 cases collected for the Progenetix molecular-cytogenetic database, 5918 malignant epithelial neoplasias analyzed by chromosomal Comparative Genomic Hybridization (CGH) were selected for further evaluation. For the 22 clinico-pathological entities with more than 50 cases, summary profiles for genomic imbalances were generated from case specific data and analyzed. With large variation in overall genomic instability, recurring genomic gains and losses were prominent. Most entities showed frequent gains involving 8q2, while gains on 20q, 1q, 3q, 5p, 7q and 17q were frequent in different entities. Loss 'hot spots' included 3p, 4q, 13q, 17p and 18q among others. Related average imbalance patterns were found for clinically distinct entities, e.g. hepatocellular carcinomas (ca.) and ductal breast ca., as well as for histologically related entities (squamous cell ca. of different sites). Although considerable case-by-case variation of genomic profiles can be found by CGH in epithelial malignancies, a limited set of variously combined chromosomal imbalances may be typical for carcinogenesis. Focus on the respective regions should aid in target gene detection and pathway deduction

  8. Specific gene expression profiles and chromosomal abnormalities are associated with infant disseminated neuroblastoma

    Directory of Open Access Journals (Sweden)

    Kushner Brian

    2009-02-01

    Full Text Available Abstract Background Neuroblastoma (NB tumours have the highest incidence of spontaneous remission, especially among the stage 4s NB subgroup affecting infants. Clinical distinction of stage 4s from lethal stage 4 can be difficult, but critical for therapeutic decisions. The aim of this study was to investigate chromosomal alterations and differential gene expression amongst infant disseminated NB subgroups. Methods Thirty-five NB tumours from patients diagnosed at Results All stage 4s patients underwent spontaneous remission, only 48% stage 4 patients survived despite combined modality therapy. Stage 4 tumours were 90% near-diploid/tetraploid, 44% MYCN amplified, 77% had 1p LOH (50% 1p36, 23% 11q and/or 14q LOH (27% and 47% had 17q gain. Stage 4s were 90% near-triploid, none MYCN amplified and LOH was restricted to 11q. Initial comparison analyses between stage 4s and 4 P P = 0.0054, 91% with higher expression in stage 4. Less definite expression profiles were observed between stage 4s and 4 P P = 0.005 was maintained. Distinct gene expression profiles but no significant association with specific chromosomal region localization was observed between stage 4s and stage 4 Conclusion Specific chromosomal aberrations are associated with distinct gene expression profiles which characterize spontaneously regressing or aggressive infant NB, providing the biological basis for the distinct clinical behaviour.

  9. The alpha-spectrin gene is on chromosome 1 in mouse and man.

    Science.gov (United States)

    Huebner, K; Palumbo, A P; Isobe, M; Kozak, C A; Monaco, S; Rovera, G; Croce, C M; Curtis, P J

    1985-06-01

    By using alpha-spectrin cDNA clones of murine and human origin and somatic cell hybrids segregating either mouse or human chromosomes, the gene for alpha-spectrin has been mapped to chromosome 1 in both species. This assignment of the mouse alpha-spectrin gene to mouse chromosome 1 by DNA hybridization strengthens the previous identification of the alpha-spectrin locus in mouse with the sph locus, which previously was mapped by linkage analysis to mouse chromosome 1, distal to the Pep-3 locus. By in situ hybridization to human metaphase chromosomes, the human alpha-spectrin gene has been localized to 1q22-1q25; interestingly, the locus for a non-Rh-linked form of elliptocytosis has been provisionally mapped to band 1q2 by family linkage studies.

  10. Effect of x-rays on the somatic chromosomes of the exotic fish, Tilapia mossambica

    Energy Technology Data Exchange (ETDEWEB)

    Manna, G.K.; Som, R.C. (Kalyani Univ. (India). Dept. of Zoology)

    1982-03-01

    Male and female T. mossambica were x-rayed with 100 r and the metaphase chromosome aberrations in their gill epithelia were studied at 13 different intervals against suitable control. The chromosomes of males appeared more radio-sensitive than those of females. Among the diploid complement of 44 chromosomes, the individual type aberrations were non-random in both sexes. The longest pair of chromosomes, taken as the marker pair, was found very highly radio-sensitive, while the remaining 21 pairs as non-markers were somewhat resistant to x-radiation when the observed and the expected numbers were subjected to statistical analysis. The break in the marker chromosome was also non-randomly distributed as the distal half had a significantly large number of breaks.

  11. Influence of different chromosomal abnormalities in Ph-positive bone marrow cells on the chronic myeloid leukemia course during tyrosine kinase inhibitors therapy

    Directory of Open Access Journals (Sweden)

    O. Yu. Vinogradova

    2014-07-01

    Full Text Available The additional molecular and chromosomal abnormalities (ACA in Phositive cells usually considered as a genetic marker of chronic myeloid leukemia (CML progression. 457 patients in different CML phases received tyrosine kinase inhibitors (1st and 2nd generation were studied. During therapy 50 cases with additional chromosomal abnormalities in Ph+ clone (22 of them in chronic CML phase were revealed (median follow-up from CML diagnosis – 117 months, median imatinib therapy – 62 months. 86 % of patients in chronic phase with Ph+- cell abnormalities were cytogenetic resistance, and their 5-years overall survival was 80 % which was significantly lower than in patients without ACA (p < 0.005. The treatment results depend on chromosomal abnormalities detected. In patients with additional chromosome 8 imatinib therapy is effective, although complete cytogenetic response (CCR is achieved only in the later therapy stages. In patients with additional translocations CCR also achieved with imatinib or 2nd generation TKI. Only a third of patients with additional Ph-chromosome or BCR/ABL amplification achieved complete suppression of Ph+ clone using 2nd generation TKI. The presence of additional chromosome 7 abnormalities and complex karyotype disorders involving isochromosome i(17(q10 are poor prognostic factors of TKI treatment failures.

  12. Vibrio chromosome-specific families

    DEFF Research Database (Denmark)

    Lukjancenko, Oksana; Ussery, David

    2014-01-01

    We have compared chromosome-specific genes in a set of 18 finished Vibrio genomes, and, in addition, also calculated the pan- and core-genomes from a data set of more than 250 draft Vibrio genome sequences. These genomes come from 9 known species and 2 unknown species. Within the finished...... chromosomes, we find a core set of 1269 encoded protein families for chromosome 1, and a core of 252 encoded protein families for chromosome 2. Many of these core proteins are also found in the draft genomes (although which chromosome they are located on is unknown.) Of the chromosome specific core protein...... families, 1169 and 153 are uniquely found in chromosomes 1 and 2, respectively. Gene ontology (GO) terms for each of the protein families were determined, and the different sets for each chromosome were compared. A total of 363 different "Molecular Function" GO categories were found for chromosome 1...

  13. Distal 4p microdeletion in a case of Wolf-Hirschhorn syndrome with congenital diaphragmatic hernia.

    Science.gov (United States)

    Casaccia, Germana; Mobili, Luisa; Braguglia, Annabella; Santoro, Francesco; Bagolan, Pietro

    2006-03-01

    Wolf-Hirschhorn syndrome (WHS) is a well-known genetic condition characterized by typical facial anomalies, midline defects, skeletal anomalies, prenatal and postnatal growth retardation, hypotonia, mental retardation, and seizures. Affected patients with a microdeletion on distal 4p present a milder phenotype that lacks congenital malformations. WHS is rarely associated with congenital diaphragmatic hernia (CDH), and only 8 cases are reported in the literature. In almost all cases of CDH and WHS a large deletion of the short arm of chromosome 4 is present. A microdeletion of 2.6 Mb on distal 4p associated with CDH and multiple congenital malformations (i.e., cleft palate) is reported for the first time. Such a microdeletion should prompt a molecular study for WHS when in a fetus/newborn with CDH the association with cleft lip/palate and typical facial appearance (flat facial profile, hypertelorism) is found. Copyright 2006 Wiley-Liss, Inc.

  14. Cytogenetic abnormalities in a series of 1,029 patients with primary myelodysplastic syndromes: a report from the US with a focus on some undefined single chromosomal abnormalities.

    Science.gov (United States)

    Pozdnyakova, Olga; Miron, Patricia M; Tang, Guilin; Walter, Otto; Raza, Azra; Woda, Bruce; Wang, Sa A

    2008-12-15

    Conventional karyotype has an established role in myelodysplastic syndrome (MDS) and is included in the International Prognostic Scoring System (IPSS) for patient risk stratification and treatment selection. Although some chromosomal abnormalities have been well characterized, the significance of several miscellaneous, infrequent, single chromosomal abnormalities remains to be defined. In addition, the emerging therapeutic agents may change the natural course of disease in patients with MDS and the cytogenetic impact on risk stratification. Clinicopathologic data were retrieved on 1029 patients who had a diagnosis of primary MDS and had available cytogenetic data (karyotype) on file. Cytogenetic abnormalities were identified in 458 patients (45%) and occurred most frequently in patients who had refractory anemia with excess blasts (62%). Overall, the 3 cytogenetic risk groups defined by the IPSS -- good, intermediate, and poor -- effectively stratified the patients' overall survival (OS) (64 months, 31 months, and 12 months, respectively; P < .001). With the exception of gain of chromosome 8, single cytogenetic abnormalities within the intermediate group were extremely infrequent in the series but demonstrated variable OS ranging from 10 months for patients who had isochromosome (17q) to 69 months for patients who had deletion of 12p [del(12p)], suggesting different prognostic significance. In the poor cytogenetic risk group, patients with isolated del(7q) and derivative (1;7)(q10;p10) had a significantly better median OS than patients who had either loss of chromosome 7 or a complex karyotype (P < .05). The current data generated from a large cohort of patients with primary MDS indicated that some specific cytogenetic abnormalities carry different risk than their IPSS cytogenetic risk-group assignment, especially in the new treatment era. Because of the extreme low frequency, additional combined studies are needed to better categorize some rare single cytogenetic

  15. Electochemical detection of chromosome translocation

    DEFF Research Database (Denmark)

    Kwasny, Dorota; Dimaki, Maria; Silahtaroglu, Asli

    2014-01-01

    Cytogenetics is a study of the cell structure with a main focus on chromosomes content and their structure. Chromosome abnormalities, such as translocations may cause various genetic disorders and heametological malignancies. Chromosome translocations are structural rearrangements of two...... chromosomes that results in formation of derivative chromosomes with a mixed DNA sequence. The method currently used for their detection is Fluorescent In Situ Hybridization, which requires a use of expensive, fluorescently labeled probes that target the derivative chromosomes. We present here a double...... hybridization approach developed for label-free detection of the chromosome translocations. For specific translocation detection it is necessary to determine that the two DNA sequences forming a derivative chromosome are connected, which is achieved by two subsequent hybridization steps. The electrochemical...

  16. Mutations and chromosomal aberrations

    International Nuclear Information System (INIS)

    Kihlman, B.A.

    1977-01-01

    The genetic changes of mutations and chromosomal aberrations are discussed. The consequences of both depend not only on the type of genetic change produced but also on the type of cell that is affected and on the development stage of the organism. (C.F.)

  17. Chromosomes, cancer and radiosensitivity

    International Nuclear Information System (INIS)

    Samouhos, E.

    1983-01-01

    Some specific chromosomal abnormalities are associated with certain cancers. The earliest description of such a specific association is the one of the Philadelphia chromosome and myelogenous leukemia (1960). Other congenital karyotype abnormalities are associated with specific cancers. Examples of these are Down's syndrome with leukemia and Klinefelter's syndrome with male breast cancer. Genetic diseases of increased chromosome breakage, or of defective chromosome repair, are associated with greatly increased cancer incidence. Three such diseases have been recognized: 1) Fanconi's anemia, associated with leukemias and lymphomas, 2) Bloom's syndrome, associated with acute leukemias and lymphosarcoma, and 3) ataxia telangiectasia, associated with Hodgkin's disease, leukemia, and lymphosarcomas. Ten percent of individuals with ataxia telangiectasia will develop one of these neoplasms. Individuals with certain of these syndromes display an unusually high radiosensitivity. Radiation therapy for cancers has been fatal in patients who received as low as 3000 rad. This remarkable radiosensitivity has been quantitated in cell cultures from such cases. Evidence suggests that the apparent sensitivity may reflect subnormal ability to repair radiation damage. The rapid proliferation of information in this field stems from the interdigitation of many disciplines and specialties, including cytogenetics, cell biology, molecular biology, epidemiology, radiobiology, and several others. This paper is intended for clinicians; it presents a structured analytic scheme for correlating and classifying this multidisciplinary information as it becomes available

  18. Know Your Chromosomes

    Indian Academy of Sciences (India)

    Home; Journals; Resonance – Journal of Science Education; Volume 1; Issue 3. Know Your Chromosomes The Strong Holds of Family Trees. Vani Brahmachari. Series Article Volume 1 Issue 3 March 1996 pp 30-38. Fulltext. Click here to view fulltext PDF. Permanent link:

  19. Ring chromosome 13

    DEFF Research Database (Denmark)

    Brandt, C A; Hertz, Jens Michael; Petersen, M B

    1992-01-01

    A stillborn male child with anencephaly and multiple malformations was found to have the karyotype 46,XY,r(13) (p11q21.1). The breakpoint at 13q21.1, determined by high resolution banding, is the most proximal breakpoint ever reported in patients with ring chromosome 13. In situ hybridisation...

  20. Distal splenorenal shunt with partial spleen resection

    Directory of Open Access Journals (Sweden)

    Gajin Predrag

    2007-01-01

    Full Text Available Introduction: Hypersplenism is a common complication of portal hypertension. Cytopenia in hypersplenism is predominantly caused by splenomegaly. Distal splenorenal shunt (Warren with partial spleen resection is an original surgical technique that regulates cytopenia by reduction of the enlarged spleen. Objective. The aim of our study was to present the advantages of distal splenorenal shunt (Warren with partial spleen resection comparing morbidity and mortality in a group of patients treated by distal splenorenal shunt with partial spleen resection with a group of patients treated only by a distal splenorenal shunt. Method. From 1995 to 2003, 41 patients with portal hypertension were surgically treated due to hypersplenism and oesophageal varices. The first group consisted of 20 patients (11 male, mean age 42.3 years who were treated by distal splenorenal shunt with partial spleen resection. The second group consisted of 21 patients (13 male, mean age 49.4 years that were treated by distal splenorenal shunt only. All patients underwent endoscopy and assessment of oesophageal varices. The size of the spleen was evaluated by ultrasound, CT or by scintigraphy. Angiography was performed in all patients. The platelet and white blood cell count and haemoglobin level were registered. Postoperatively, we noted blood transfusion, complications and total hospital stay. Follow-up period was 12 months, with first checkup after one month. Results In the first group, only one patient had splenomegaly postoperatively (5%, while in the second group there were 13 patients with splenomegaly (68%. Before surgery, the mean platelet count in the first group was 51.6±18.3x109/l, to 118.6±25.4x109/l postoperatively. The mean platelet count in the second group was 67.6±22.8x109/l, to 87.8±32.1x109/l postoperatively. Concerning postoperative splenomegaly, statistically significant difference was noted between the first and the second group (p<0.05. Comparing the

  1. Contemporary Management of Primary Distal Urethral Cancer.

    Science.gov (United States)

    Traboulsi, Samer L; Witjes, Johannes Alfred; Kassouf, Wassim

    2016-11-01

    Primary urethral cancer is one of the rare urologic tumors. Distal urethral tumors are usually less advanced at diagnosis compared with proximal tumors and have a good prognosis if treated appropriately. Low-stage distal tumors can be managed successfully with a surgical approach in men or radiation therapy in women. There are no clear-cut indications for the choice of the most appropriate treatment modality. Organ-preserving modalities have shown effective and should be used whenever they do not compromise the oncological safety to decrease the physical and psychological trauma of dismemberment or loss of sexual/urinary function. Copyright © 2016 Elsevier Inc. All rights reserved.

  2. Spontaneous distal rupture of the plantar fascia.

    Science.gov (United States)

    Gitto, Salvatore; Draghi, Ferdinando

    2018-07-01

    Spontaneous ruptures of the plantar fascia are uncommon injuries. They typically occur at its calcaneal insertion and usually represent a complication of plantar fasciitis and local treatment with steroid injections. In contrast, distal ruptures commonly result from traumatic injuries. We describe the case of a spontaneous distal rupture of the plantar fascia in a 48-year-old woman with a low level of physical activity and no history of direct injury to the foot, plantar fasciitis, or steroid injections. © 2017 Wiley Periodicals, Inc.

  3. Torsion of wandering spleen and distal pancreas

    International Nuclear Information System (INIS)

    Sheflin, J.R.; Lee, C.M.; Kretchmar, K.A.

    1984-01-01

    Wandering spleen is the term applied to the condition in which a long pedicle allows the spleen to lie in an abnormal location. Torsion of a wandering spleen is an unusual cause of an acute abdomen and is rarely diagnosed preoperatively. Associated torsion of the distal pancreas is even more uncommon. The authors describe a patient with torsion of a wandering spleen and distal pancreas, who was correctly diagnosed, and define the merits of the imaging methods used. The initial examination should be 99 /sup m/Tc-sulfur colloid liner-spleen scanning

  4. Telomere dysfunction and chromosome instability

    Energy Technology Data Exchange (ETDEWEB)

    Murnane, John P., E-mail: jmurnane@radonc.ucsf.edu [Department of Radiation Oncology, University of California San Francisco, 2340 Sutter Street, San Francisco, CA 94143-1331 (United States)

    2012-02-01

    The ends of chromosomes are composed of a short repeat sequence and associated proteins that together form a cap, called a telomere, that keeps the ends from appearing as double-strand breaks (DSBs) and prevents chromosome fusion. The loss of telomeric repeat sequences or deficiencies in telomeric proteins can result in chromosome fusion and lead to chromosome instability. The similarity between chromosome rearrangements resulting from telomere loss and those found in cancer cells implicates telomere loss as an important mechanism for the chromosome instability contributing to human cancer. Telomere loss in cancer cells can occur through gradual shortening due to insufficient telomerase, the protein that maintains telomeres. However, cancer cells often have a high rate of spontaneous telomere loss despite the expression of telomerase, which has been proposed to result from a combination of oncogene-mediated replication stress and a deficiency in DSB repair in telomeric regions. Chromosome fusion in mammalian cells primarily involves nonhomologous end joining (NHEJ), which is the major form of DSB repair. Chromosome fusion initiates chromosome instability involving breakage-fusion-bridge (B/F/B) cycles, in which dicentric chromosomes form bridges and break as the cell attempts to divide, repeating the process in subsequent cell cycles. Fusion between sister chromatids results in large inverted repeats on the end of the chromosome, which amplify further following additional B/F/B cycles. B/F/B cycles continue until the chromosome acquires a new telomere, most often by translocation of the end of another chromosome. The instability is not confined to a chromosome that loses its telomere, because the instability is transferred to the chromosome donating a translocation. Moreover, the amplified regions are unstable and form extrachromosomal DNA that can reintegrate at new locations. Knowledge concerning the factors promoting telomere loss and its consequences is

  5. An estimation of the prevalence of genomic disorders using chromosomal microarray data.

    Science.gov (United States)

    Gillentine, Madelyn A; Lupo, Philip J; Stankiewicz, Pawel; Schaaf, Christian P

    2018-04-24

    Multiple genomic disorders result from recurrent deletions or duplications between low copy repeat (LCR) clusters, mediated by nonallelic homologous recombination. These copy number variants (CNVs) often exhibit variable expressivity and/or incomplete penetrance. However, the population prevalence of many genomic disorders has not been estimated accurately. A subset of genomic disorders similarly characterized by CNVs between LCRs have been studied epidemiologically, including Williams-Beuren syndrome (7q11.23), Smith-Magenis syndrome (17p11.2), velocardiofacial syndrome (22q11.21), Prader-Willi/Angelman syndromes (15q11.2q12), 17q12 deletion syndrome, and Charcot-Marie-Tooth neuropathy type 1/hereditary neuropathy with liability to pressure palsy (PMP22, 17q11.2). We have generated a method to estimate prevalence of highly penetrant genomic disorders by (1) leveraging epidemiological data for genomic disorders with previously reported prevalence estimates, (2) obtaining chromosomal microarray data on genomic disorders from a large medical genetics clinic; and (3) utilizing these in a linear regression model to determine the prevalence of this syndromic copy number change among the general population. Using our algorithm, the prevalence for five clinically relevant recurrent genomic disorders: 1q21.1 microdeletion (1/6882 live births) and microduplication syndromes (1/6309), 15q13.3 microdeletion syndrome (1/5525), and 16p11.2 microdeletion (1/3021) and microduplication syndromes (1/4216), were determined. These findings will inform epidemiological strategies for evaluating those conditions, and our method may be useful to evaluate the prevalence of other highly penetrant genomic disorders.

  6. Endovascular treatment of ruptured distal posterior inferior ...

    African Journals Online (AJOL)

    2014-03-01

    Mar 1, 2014 ... there are lots of reports regarding the interventional therapy of the artery aneurysms (including proximal and distal), all of which are considered to be safe and effective. All the incidences of interventional-related complications are below 10% and there is no report of injury of lower cranial nerves [11, 12].

  7. Urethral mobilization and advancement for distal hypospadias ...

    African Journals Online (AJOL)

    Background/purpose Despite the existence of numerous techniques for the repair of distal penile hypospadias, none of them is completely satisfactory. Advancing the urethra without mobilization for repair of glanular hypospadias has the advantage of avoiding a common problem occurring with other techniques: ...

  8. The X chromosome in space.

    Science.gov (United States)

    Jégu, Teddy; Aeby, Eric; Lee, Jeannie T

    2017-06-01

    Extensive 3D folding is required to package a genome into the tiny nuclear space, and this packaging must be compatible with proper gene expression. Thus, in the well-hierarchized nucleus, chromosomes occupy discrete territories and adopt specific 3D organizational structures that facilitate interactions between regulatory elements for gene expression. The mammalian X chromosome exemplifies this structure-function relationship. Recent studies have shown that, upon X-chromosome inactivation, active and inactive X chromosomes localize to different subnuclear positions and adopt distinct chromosomal architectures that reflect their activity states. Here, we review the roles of long non-coding RNAs, chromosomal organizational structures and the subnuclear localization of chromosomes as they relate to X-linked gene expression.

  9. Comparative mapping of DNA markers from the familial Alzheimer disease and Down syndrome regions of human chromosome 21 to mouse chromosomes 16 and 17

    Energy Technology Data Exchange (ETDEWEB)

    Cheng, S.V.; Nadeau, J.H.; Tanzi, R.E.; Watkins, P.C.; Jagadesh, J.; Taylor, B.A.; Haines, J.L.; Sacchi, N.; Gusella, J.F. (Harvard Medical School, Boston, MA (USA))

    1988-08-01

    Mouse trisomy 16 has been proposed as an animal model of Down syndrome (DS), since this chromosome contains homologues of several loci from the q22 band of human chromosome 21. The recent mapping of the defect causing familial Alzheimer disease (FAD) and the locus encoding the Alzheimer amyloid {beta} precursor protein (APP) to human chromosome 21 has prompted a more detailed examination of the extent of conservation of this linkage group between the two species. Using anonymous DNA probes and cloned genes from human chromosome 21 in a combination of recombinant inbred and interspecific mouse backcross analyses, the authors have established that the linkage group shared by mouse chromosome 16 includes not only the critical DS region of human chromosome 21 but also the APP gene and FAD-linked markers. Extending from the anonymous DNA locus D21S52 to ETS2, the linkage map of six loci spans 39% recombination in man but only 6.4% recombination in the mouse. A break in synteny occurs distal to ETS2, with the homologue of the human marker D21S56 mapping to mouse chromosome 17. Conservation of the linkage relationships of markers in the FAD region suggests that the murine homologue of the FAD locus probably maps to chromosome 16 and that detailed comparison of the corresponding region in both species could facilitate identification of the primary defect in this disorder. The break in synteny between the terminal portion of human chromosome 21 and mouse chromosome 16 indicates, however, that mouse trisomy 16 may not represent a complete model of DS.

  10. Comparative mapping of DNA markers from the familial Alzheimer disease and Down syndrome regions of human chromosome 21 to mouse chromosomes 16 and 17

    International Nuclear Information System (INIS)

    Cheng, S.V.; Nadeau, J.H.; Tanzi, R.E.; Watkins, P.C.; Jagadesh, J.; Taylor, B.A.; Haines, J.L.; Sacchi, N.; Gusella, J.F.

    1988-01-01

    Mouse trisomy 16 has been proposed as an animal model of Down syndrome (DS), since this chromosome contains homologues of several loci from the q22 band of human chromosome 21. The recent mapping of the defect causing familial Alzheimer disease (FAD) and the locus encoding the Alzheimer amyloid β precursor protein (APP) to human chromosome 21 has prompted a more detailed examination of the extent of conservation of this linkage group between the two species. Using anonymous DNA probes and cloned genes from human chromosome 21 in a combination of recombinant inbred and interspecific mouse backcross analyses, the authors have established that the linkage group shared by mouse chromosome 16 includes not only the critical DS region of human chromosome 21 but also the APP gene and FAD-linked markers. Extending from the anonymous DNA locus D21S52 to ETS2, the linkage map of six loci spans 39% recombination in man but only 6.4% recombination in the mouse. A break in synteny occurs distal to ETS2, with the homologue of the human marker D21S56 mapping to mouse chromosome 17. Conservation of the linkage relationships of markers in the FAD region suggests that the murine homologue of the FAD locus probably maps to chromosome 16 and that detailed comparison of the corresponding region in both species could facilitate identification of the primary defect in this disorder. The break in synteny between the terminal portion of human chromosome 21 and mouse chromosome 16 indicates, however, that mouse trisomy 16 may not represent a complete model of DS

  11. Analysis of 1;17 translocation breakpoints in neuroblastoma: implications for mapping of neuroblastoma genes

    NARCIS (Netherlands)

    van Roy, N.; Laureys, G.; van Gele, M.; Opdenakker, G.; Miura, R.; van der Drift, P.; Chan, A.; Versteeg, R.; Speleman, F.

    1997-01-01

    Deletions and translocations resulting in loss of distal 1p-material are known to occur frequently in advanced neuroblastomas. Fluorescence in situ hybridisation (FISH) showed that 17q was most frequently involved in chromosome 1p translocations. A review of the literature shows that 10 of 27 cell

  12. Next generation sequencing identifies abnormal Y chromosome and candidate causal variants in premature ovarian failure patients.

    Science.gov (United States)

    Lee, Yujung; Kim, Changshin; Park, YoungJoon; Pyun, Jung-A; Kwack, KyuBum

    2016-12-01

    Premature ovarian failure (POF) is characterized by heterogeneous genetic causes such as chromosomal abnormalities and variants in causal genes. Recently, development of techniques made next generation sequencing (NGS) possible to detect genome wide variants including chromosomal abnormalities. Among 37 Korean POF patients, XY karyotype with distal part deletions of Y chromosome, Yp11.32-31 and Yp12 end part, was observed in two patients through NGS. Six deleterious variants in POF genes were also detected which might explain the pathogenesis of POF with abnormalities in the sex chromosomes. Additionally, the two POF patients had no mutation in SRY but three non-synonymous variants were detected in genes regarding sex reversal. These findings suggest candidate causes of POF and sex reversal and show the propriety of NGS to approach the heterogeneous pathogenesis of POF. Copyright © 2016 Elsevier Inc. All rights reserved.

  13. Meiotic drive on aberrant chromosome 1 in the mouse is determined by a linked distorter.

    Science.gov (United States)

    Agulnik, S I; Sabantsev, I D; Orlova, G V; Ruvinsky, A O

    1993-04-01

    An aberrant chromosome 1 carrying an inverted fragment with two amplified DNA regions was isolated from wild populations of Mus musculus. Meiotic drive favouring the aberrant chromosome was demonstrated for heterozygous females. Its cause was preferential passage of aberrant chromosome 1 to the oocyte. Genetic analysis allowed us to identify a two-component system conditioning deviation from equal segregation of the homologues. The system consists of a postulated distorter and responder. The distorter is located on chromosome 1 distally to the responder, between the ln and Pep-3 genes, and it acts on the responder when in trans position. Polymorphism of the distorters was manifested as variation in their effect on meiotic drive level in the laboratory strain and mice from wild populations.

  14. The effects of chromosome rearrangements on the expression of heterochromatic genes in chromosome 2L of Drosophila melanogaster

    International Nuclear Information System (INIS)

    Wakimoto, B.T.; Hearn, M.G.

    1990-01-01

    The light (lt) gene of Drosophila melanogaster is located at the base of the left arm of chromosome 2, within or very near centromeric heterochromatin (2Lh). Chromosome rearrangements that move the lt + gene from its normal proximal position and place the gene in distal euchromatin result in mosaic or variegated expression of the gene. The cytogenetic and genetic properties of 17 lt-variegated rearrangements induced by X radiation are described in this report. The authors show that five of the heterochromatic genes adjacent to lt are subject to inactivation by these rearrangements and that the euchromatic loci in proximal 2L are not detectably affected. The properties of the rearrangements suggest that proximity to heterochromatin is an important regulatory requirement for at least six 2Lh genes. They discuss how the properties of the position effects on heterochromatic genes relate to other proximity-dependent phenomena such as transvection

  15. Distal displacement of the maxilla and the upper first molar.

    Science.gov (United States)

    Baumrind, S; Molthen, R; West, E E; Miller, D M

    1979-06-01

    Data from a sample of 198 Class II cases treated with various appliances which deliver distally directed forces to the maxilla were examined to determine the frequency of absolute distal displacement of the upper first molar and of the maxilla. Analysis revealed that such distal displacement is possible and that it is, in fact, a frequent finding following treatment. Long-range stability of distal displacement was not assessed.

  16. Distal radioulnar joint: functional anatomy, including pathomechanics.

    Science.gov (United States)

    Haugstvedt, J R; Langer, M F; Berger, R A

    2017-05-01

    The distal radioulnar joint allows the human to rotate the forearm to place the hand in a desired position to perform different tasks, without interfering with the grasping function of the hand. The ulna is the stable part of the forearm around which the radius rotates; the stability of the distal radioulnar joint is provided by the interaction between ligaments, muscles and bones. The stabilizing structures are the triangular fibrocartilage complex, the ulnocarpal ligament complex, the extensor carpi ulnaris tendon and tendon sheath, the pronator quadratus, the interosseous membrane and ligament, the bone itself and the joint capsule. The purpose of this review article is to present and illustrate the current understanding of the functional anatomy and pathomechanics of this joint.

  17. Distal Stressors and Depression among Homeless Men

    OpenAIRE

    Coohey, Carol; Easton, Scott D.

    2016-01-01

    Depression is a common problem among homeless men that may interfere with functional tasks, such as securing stable housing, obtaining employment, and accessing health services. Previous research on depression among homeless men has largely focused on current psychosocial resources, substance abuse, and past victimization. Guided by Ensel and Lin’s life course stress process model, the authors examined whether distal stressors, including victimization and exposure to parent problems in childh...

  18. Identification of chromosome 7 inversion breakpoints in an autistic family narrows candidate region for autism susceptibility.

    Science.gov (United States)

    Cukier, Holly N; Skaar, David A; Rayner-Evans, Melissa Y; Konidari, Ioanna; Whitehead, Patrice L; Jaworski, James M; Cuccaro, Michael L; Pericak-Vance, Margaret A; Gilbert, John R

    2009-10-01

    Chromosomal breaks and rearrangements have been observed in conjunction with autism and autistic spectrum disorders. A chromosomal inversion has been previously reported in autistic siblings, spanning the region from approximately 7q22.1 to 7q31. This family is distinguished by having multiple individuals with autism and associated disabilities. The region containing the inversion has been strongly implicated in autism by multiple linkage studies, and has been particularly associated with language defects in autism as well as in other disorders with language components. Mapping of the inversion breakpoints by FISH has localized the inversion to the region spanning approximately 99-108.75 Mb of chromosome 7. The proximal breakpoint has the potential to disrupt either the coding sequence or regulatory regions of a number of cytochrome P450 genes while the distal region falls in a relative gene desert. Copy number variant analysis of the breakpoint regions detected no duplication or deletion that could clearly be associated with disease status. Association analysis in our autism data set using single nucleotide polymorphisms located near the breakpoints showed no significant association with proximal breakpoint markers, but has identified markers near the distal breakpoint ( approximately 108-110 Mb) with significant associations to autism. The chromosomal abnormality in this family strengthens the case for an autism susceptibility gene in the chromosome 7q22-31 region and targets a candidate region for further investigation.

  19. Fractures of the distal phalanx in the horse

    International Nuclear Information System (INIS)

    Yovich, J.V.

    1989-01-01

    Fractures of the distal phalanx are an important cause of lameness referable to the foot. Depending on the fracture configuration and articular involvement, conservative or surgical treatment may be required. Fractures of the distal phalanx have been divided into six categories based on fracture configuration. Discussion of clinical features, management, and prognosis for horses with distal phalangeal fractures is presented for each fracture type

  20. Nonunions of the distal tibia treated by reamed intramedullary nailing

    NARCIS (Netherlands)

    Richmond, Jeffrey; Colleran, Kevin; Borens, Olivier; Kloen, Peter; Helfet, David L.

    2004-01-01

    The purpose of this study is to determine the efficacy of reamed intramedullary nailing in the treatment of nonunions of the distal one-fourth of the tibia. Nonunions of the distal tibia are particularly difficult to treat given the short distal segment, the proximity to the ankle joint, and the

  1. Management and treatment of distal ulcerative colitis

    Directory of Open Access Journals (Sweden)

    Andrea Calafiore

    2013-12-01

    Full Text Available Ulcerative colitis (UC is a chronic inflammatory condition that is confined to the colonic mucosa. Its main symptoms include diarrhea, rectal bleeding and abdominal pain. Approximately two-thirds of UC patients have disease confined distal to the splenic flexure, which can be treated effectively with topical therapy. This means the active drug can be delivered directly to the site of inflammation, limiting the systemic absorption and potential side effects. Topical treatment with aminosalicylates is the most effective approach in the treatment of these forms, provided that the formulation reaches the upper margin of the disease. Given this, the suppository formulation is the treatment of choice for proctitis and distal sigmoiditis. Thanks to their proximal spread, enemas, foams and gels represent the treatment of choice for proctosigmoiditis and for distal ulcerative colitis. Oral aminosalicylates are less effective than topical therapies in patients with active disease, while the combination of topical and oral treatment is more effective in patients refractory to topical or oral mono-therapy. Topically administered aminosalicylates play an important role in the maintenance of remission, but the long-term adhesion to therapy is poor. For this reason, the oral formulation is the first-line therapy in the maintenance of remission. Refractory patients can be treated with topical steroids or systemic steroids and TNF-alpha inhibitors in severe forms.

  2. Distal Embolic Protection for Renal Arterial Interventions

    International Nuclear Information System (INIS)

    Dubel, Gregory J.; Murphy, Timothy P.

    2008-01-01

    Distal or embolic protection has intuitive appeal for its potential to prevent embolization of materials generated during interventional procedures. Distal protection devices (DPDs) have been most widely used in the coronary and carotid vascular beds, where they have demonstrated the ability to trap embolic materials and, in some cases, to reduce complications. Given the frequency of chronic kidney disease in patients with renal artery stenosis undergoing stent placement, it is reasonable to propose that these devices may play an important role in limiting distal embolization in the renal vasculature. Careful review of the literature reveals that atheroembolization does occur during renal arterial interventions, although it often goes undetected. Early experience with DPDs in the renal arteries in patients with suitable anatomy suggests retrieval of embolic materials in approximately 71% of cases and renal functional improvement/stabilization in 98% of cases. The combination of platelet inhibition and a DPD may provide even greater benefit. Given the critical importance of renal functional preservation, it follows that everything that can be done to prevent atheroembolism should be undertaken including the use of DPDs when anatomically feasible. The data available at this time support a beneficial role for these devices

  3. The Huntington disease locus is most likely within 325 kilobases of the chromosome 4p telomere

    International Nuclear Information System (INIS)

    Doggett, N.A.; Cheng, J.F.; Smith, C.L.; Cantor, C.R.

    1989-01-01

    The genetic defect responsible for Huntington disease was originally localized near the tip of the short arm of chromosome 4 by genetic linkage to the locus D4S10. Several markers closer to Huntington disease have since been isolated, but these all appear to be proximal to the defect. A physical map that extends from the most distal of these loci, D4S90, to the telomere of chromosome 4 was constructed. This map identifies at least two CpG islands as markers for Huntington disease candidate genes and places the most likely location of the Huntington disease defect remarkably close (within 325 kilobases) to the telomere

  4. Molecular fundamentals of chromosomal mutagenesis

    International Nuclear Information System (INIS)

    Ganassi, E.Eh.; Zaichkina, S.I.; Malakhova, L.V.

    1987-01-01

    Precise quantitative correlation between the yield of chromosome structure damages and the yield of DNA damages is shown when comparing data on molecular and cytogenetic investigations carried out in cultural Mammalia cells. As the chromosome structure damage is to be connected with the damage of its carcass structure, then it is natural that DNA damage in loop regions is not to affect considerably the structure, while DNA damage lying on the loop base and connected with the chromosome carcass is to play a determining role in chromosomal mutagenesis. This DNA constitutes 1-2% from the total quantity of nuclear DNA. If one accepts that damages of these regions of DNA are ''hot'' points of chromosomal mutagenesis, then it becomes clear why 1-2% of preparation damages in a cell are realized in chromosome structural damages

  5. Intraspecific chromosome variability

    Directory of Open Access Journals (Sweden)

    N Dubinin

    2010-12-01

    Full Text Available (Editorial preface. The publication is presented in order to remind us of one of dramatic pages of the history of genetics. It re-opens for the contemporary reader a comprehensive work marking the priority change from plant cytogenetics to animal cytogenetics led by wide population studies which were conducted on Drosophila polytene chromosomes. The year of the publication (1937 became the point of irretrievable branching between the directions of Old World and New World genetics connected with the problems of chromosome variability and its significance for the evolution of the species. The famous book of T. Dobzhansky (1937 was published by Columbia University in the US under the title “Genetics and the origin of species”, and in the shadow of this American ‘skybuilding’ all other works grew dim. It is remarkable that both Dobzhansky and Dubinin come to similar conclusions about the role of chromosomes in speciation. This is not surprising given that they both might be considered as representatives of the Russian genetic school, by their birth and education. Interestingly, Dobzhansky had never referred to the full paper of Dubinin et al. (1937, though a previous short communication in Nature (1936 was included together with all former papers on the related subject. In full, the volume of the original publication printed in the Biological Journal in Moscow comprised 47 pages, in that number 41 pages of the Russian text accompanied by 16 Figs, a table and reference list, and, above all, 6 pages of the English summary. This final part in English is now reproduced in the authors’ version with the only addition being the reference list in the originally printed form.

  6. Maxillary molar distalization with the dual-force distalizer supported by mini-implants: a clinical study.

    Science.gov (United States)

    Oberti, Giovanni; Villegas, Carlos; Ealo, Martha; Palacio, John Camilo; Baccetti, Tiziano

    2009-03-01

    The objective of this prospective study was to describe the clinical effects of a bone-supported molar distalizing appliance, the dual-force distalizer. The study group included 16 patients (mean age, 14.3 years) with Class II molar relationships. Study models and lateral cephalograms were taken before and after the distalizing movement to record significant dental and skeletal changes (Wilcoxon test). The average distalization time was 5 months, with a movement rate of 1.2 mm per month; the distalization amounts were 5.9 +/- 1.72 mm at the crown level and 4.4 +/- 1.41 mm at the furcation level. The average molar inclination was 5.6 degrees +/- 3.7 degrees ; this was less than the amount of inclination generated by bone-supported appliances that use single distalizing forces. The correlation between inclination and distalization was not significant, indicating predominantly bodily movement. The teeth anterior to the first molar moved distally also; the second premolars distalized an average of 4.26 mm, and the incisors retruded by 0.53 mm. The dual-force distalizer is a valid alternative distalizing appliance that generates controlled molar distalization with a good rate of movement and no loss of anchorage.

  7. Robotic distal pancreatectomy versus conventional laparoscopic distal pancreatectomy: a comparative study for short-term outcomes.

    Science.gov (United States)

    Lai, Eric C H; Tang, Chung Ngai

    2015-09-01

    Robotic system has been increasingly used in pancreatectomy. However, the effectiveness of this method remains uncertain. This study compared the surgical outcomes between robot-assisted laparoscopic distal pancreatectomy and conventional laparoscopic distal pancreatectomy. During a 15-year period, 35 patients underwent minimally invasive approach of distal pancreatectomy in our center. Seventeen of these patients had robot-assisted laparoscopic approach, and the remaining 18 had conventional laparoscopic approach. Their operative parameters and perioperative outcomes were analyzed retrospectively in a prospective database. The mean operating time in the robotic group (221.4 min) was significantly longer than that in the laparoscopic group (173.6 min) (P = 0.026). Both robotic and conventional laparoscopic groups presented no significant difference in spleen-preservation rate (52.9% vs. 38.9%) (P = 0.505), operative blood loss (100.3 ml vs. 268.3 ml) (P = 0.29), overall morbidity rate (47.1% vs. 38.9%) (P = 0.73), and post-operative hospital stay (11.4 days vs. 14.2 days) (P = 0.46). Both groups also showed no perioperative mortality. Similar outcomes were observed in robotic distal pancreatectomy and conventional laparoscopic approach. However, robotic approach tended to have the advantages of less blood loss and shorter hospital stay. Further studies are necessary to determine the clinical position of robotic distal pancreatectomy.

  8. An innovative technique to distalize maxillary molar using microimplant supported rapid molar distalizer

    Directory of Open Access Journals (Sweden)

    Meenu Goel

    2013-01-01

    Full Text Available Introduction: In recent years, enhancements in implants have made their use possible as a mode of absolute anchorage in orthodontic patients. In this paper, the authors have introduced an innovative technique to unilaterally distalize the upper left 1 st molar to obtain an ideal Class I molar relationship from a Class II existing molar relationship with an indigenous designed distalizer. Clinical Innovation: For effective unilateral diatalization of molar, a novel cantilever sliding jig assembly was utilized with coil spring supported by a buccally placed single micro implant. The results showed 3 mm of bodily distalization with 1 mm of intrusion and 2° of distal tipping of upper left 1 st molar in 1.5 months. Discussion: This appliance is relatively easy to insert, well-tolerated, and requires minimal patient cooperation compared to other present techniques of molar distalization. Moreover, it is particularly useful in cases that are Class II on one side and Class I on the other, with a minor midline discrepancy and nominal overjet. Patient acceptance level was reported to be within patients physiological and comfort limits.

  9. Evolution of the Banana Genome (Musa acuminata) Is Impacted by Large Chromosomal Translocations.

    Science.gov (United States)

    Martin, Guillaume; Carreel, Françoise; Coriton, Olivier; Hervouet, Catherine; Cardi, Céline; Derouault, Paco; Roques, Danièle; Salmon, Frédéric; Rouard, Mathieu; Sardos, Julie; Labadie, Karine; Baurens, Franc-Christophe; D'Hont, Angélique

    2017-09-01

    Most banana cultivars are triploid seedless parthenocarpic clones derived from hybridization between Musa acuminata subspecies and sometimes M. balbisiana. M. acuminata subspecies were suggested to differ by a few large chromosomal rearrangements based on chromosome pairing configurations in intersubspecies hybrids. We searched for large chromosomal rearrangements in a seedy M. acuminata ssp. malaccensis banana accession through mate-pair sequencing, BAC-FISH, targeted PCR and marker (DArTseq) segregation in its progeny. We identified a heterozygous reciprocal translocation involving two distal 3 and 10 Mb segments from chromosomes 01 and 04, respectively, and showed that it generated high segregation distortion, reduced recombination and linkage between chromosomes 01 and 04 in its progeny. The two chromosome structures were found to be mutually exclusive in gametes and the rearranged structure was preferentially transmitted to the progeny. The rearranged chromosome structure was frequently found in triploid cultivars but present only in wild malaccensis ssp. accessions, thus suggesting that this rearrangement occurred in M. acuminata ssp. malaccensis. We propose a mechanism for the spread of this rearrangement in Musa diversity and suggest that this rearrangement could have played a role in the emergence of triploid cultivars. © The Author 2017. Published by Oxford University Press on behalf of the Society for Molecular Biology and Evolution.

  10. Translocations of chromosome end-segments and facultative heterochromatin promote meiotic ring formation in evening primroses.

    Science.gov (United States)

    Golczyk, Hieronim; Massouh, Amid; Greiner, Stephan

    2014-03-01

    Due to reciprocal chromosomal translocations, many species of Oenothera (evening primrose) form permanent multichromosomal meiotic rings. However, regular bivalent pairing is also observed. Chiasmata are restricted to chromosomal ends, which makes homologous recombination virtually undetectable. Genetic diversity is achieved by changing linkage relations of chromosomes in rings and bivalents via hybridization and reciprocal translocations. Although the structural prerequisite for this system is enigmatic, whole-arm translocations are widely assumed to be the mechanistic driving force. We demonstrate that this prerequisite is genome compartmentation into two epigenetically defined chromatin fractions. The first one facultatively condenses in cycling cells into chromocenters negative both for histone H3 dimethylated at lysine 4 and for C-banding, and forms huge condensed middle chromosome regions on prophase chromosomes. Remarkably, it decondenses in differentiating cells. The second fraction is euchromatin confined to distal chromosome segments, positive for histone H3 lysine 4 dimethylation and for histone H3 lysine 27 trimethylation. The end-segments are deprived of canonical telomeres but capped with constitutive heterochromatin. This genomic organization promotes translocation breakpoints between the two chromatin fractions, thus facilitating exchanges of end-segments. We challenge the whole-arm translocation hypothesis by demonstrating why reciprocal translocations of chromosomal end-segments should strongly promote meiotic rings and evolution toward permanent translocation heterozygosity. Reshuffled end-segments, each possessing a major crossover hot spot, can furthermore explain meiotic compatibility between genomes with different translocation histories.

  11. Neuropeptide Y receptor genes on human chromosome 4q31-q32 map to conserved linkage groups on mouse chromosomes 3 and 8

    Energy Technology Data Exchange (ETDEWEB)

    Lutz, C.M.; Frankel, W.N. [Jackson Lab., Bar Harbor, ME (United States); Richards, J.E. [Univ. of Michigan Medical School, Ann Arbor, MI (United States)] [and others

    1997-05-01

    Npy1r and Npy2r, the genes encoding mouse type 1 and type 2 neuropeptide Y receptors, have been mapped by interspecific backcross analysis. Previous studies have localized the human genes encoding these receptors to chromosome 4q31-q32. We have now assigned Npy1r and Npy2r to conserved linkage groups on mouse Chr 8 and Chr 3, respectively, which correspond to the distal region of human chromosome 4q. Using yeast artificial chromosomes, we have estimated the distance between the human genes to be approximately 6 cM. Although ancient tandem duplication events may account for some closely spaced G-protein-coupled receptor genes, the large genetic distance between the human type 1 and type 2 neuropeptide Y receptor genes raises questions about whether this mechanism accounts for their proximity. 20 refs., 1 fig.

  12. X chromosome and suicide.

    Science.gov (United States)

    Fiori, L M; Zouk, H; Himmelman, C; Turecki, G

    2011-02-01

    Suicide completion rates are significantly higher in males than females in most societies. Although gender differences in suicide rates have been partially explained by environmental and behavioral factors, it is possible that genetic factors, through differential expression between genders, may also help explain gender moderation of suicide risk. This study investigated X-linked genes in suicide completers using a two-step strategy. We first took advantage of the genetic structure of the French-Canadian population and genotyped 722 unrelated French-Canadian male subjects, of whom 333 were suicide completers and 389 were non-suicide controls, using a panel of 37 microsatellite markers spanning the entire X chromosome. Nine haplotype windows and several individual markers were associated with suicide. Significant results aggregated primarily in two regions, one in the long arm and another in the short arm of chromosome X, limited by markers DXS8051 and DXS8102, and DXS1001 and DXS8106, respectively. The second stage of the study investigated differential brain expression of genes mapping to associated regions in Brodmann areas 8/9, 11, 44 and 46, in an independent sample of suicide completers and controls. Six genes within these regions, Rho GTPase-activating protein 6, adaptor-related protein complex 1 sigma 2 subunit, glycoprotein M6B, ribosomal protein S6 kinase 90  kDa polypeptide 3, spermidine/spermine N(1)-acetyltransferase 1 and THO complex 2, were found to be differentially expressed in suicide completers.

  13. Chromosome Connections: Compelling Clues to Common Ancestry

    Science.gov (United States)

    Flammer, Larry

    2013-01-01

    Students compare banding patterns on hominid chromosomes and see striking evidence of their common ancestry. To test this, human chromosome no. 2 is matched with two shorter chimpanzee chromosomes, leading to the hypothesis that human chromosome 2 resulted from the fusion of the two shorter chromosomes. Students test that hypothesis by looking for…

  14. New Y chromosomes and early stages of sex chromosome ...

    Indian Academy of Sciences (India)

    2010-09-06

    Sep 6, 2010 ... chromosomes are evolutionary consequences of that func- tion. Given sufficient ... (for a review, see Charlesworth et al. 2005). ... In the present paper, I review sex deter- mination .... part had apparently been exchanged against the homologous ... age group III-Y chromosomes were successful while in well-.

  15. Pure chromosome-specific PCR libraries from single sorted chromosomes

    NARCIS (Netherlands)

    VanDevanter, D. R.; Choongkittaworn, N. M.; Dyer, K. A.; Aten, J. A.; Otto, P.; Behler, C.; Bryant, E. M.; Rabinovitch, P. S.

    1994-01-01

    Chromosome-specific DNA libraries can be very useful in molecular and cytogenetic genome mapping studies. We have developed a rapid and simple method for the generation of chromosome-specific DNA sequences that relies on polymerase chain reaction (PCR) amplification of a single flow-sorted

  16. [New anterolateral approach of distal femur for treatment of distal femoral fractures].

    Science.gov (United States)

    Zhang, Bin; Dai, Min; Zou, Fan; Luo, Song; Li, Binhua; Qiu, Ping; Nie, Tao

    2013-11-01

    To assess the effectiveness of the new anterolateral approach of the distal femur for the treatment of distal femoral fractures. Between July 2007 and December 2009, 58 patients with distal femoral fractures were treated by new anterolateral approach of the distal femur in 28 patients (new approach group) and by conventional approach in 30 patients (conventional approach group). There was no significant difference in gender, age, cause of injury, affected side, type of fracture, disease duration, complication, or preoperative intervention (P > 0.05). The operation time, intraoperative blood loss, intraoperative fluoroscopy frequency, hospitalization days, and Hospital for Special Surgery (HSS) score of knee were recorded. Operation was successfully completed in all patients of 2 groups, and healing of incision by first intention was obtained; no vascular and nerves injuries occurred. The operation time and intraoperative fluoroscopy frequency of new approach group were significantly less than those of conventional approach group (P 0.05). All patients were followed up 12-36 months (mean, 19.8 months). Bone union was shown on X-ray films; the fracture healing time was (12.62 +/- 2.34) weeks in the new approach group and was (13.78 +/- 1.94) weeks in the conventional approach group, showing no significant difference (t=2.78, P=0.10). The knee HSS score at last follow-up was 94.4 +/- 4.2 in the new approach group, and was 89.2 +/- 6.0 in the conventional approach group, showing significant difference between 2 groups (t=3.85, P=0.00). New anterolateral approach of the distal femur for distal femoral fractures has the advantages of exposure plenitude, minimal tissue trauma, and early function rehabilitation training so as to enhance the function recovery of knee joint.

  17. Distal protection filter device efficacy with carotid artery stenting: comparison between a distal protection filter and a distal protection balloon.

    Science.gov (United States)

    Iko, Minoru; Tsutsumi, Masanori; Aikawa, Hiroshi; Matsumoto, Yoshihisa; Go, Yoshinori; Nii, Kouhei; Abe, Gorou; Ye, Iwae; Nomoto, Yasuyuki; Kazekawa, Kiyoshi

    2013-01-01

    This retrospective study aimed to compare the effectiveness of the embolization prevention mechanism of two types of embolic protection device (EPD)-a distal protection balloon (DPB) and a distal protection filter (DPF). Subjects were 164 patients scheduled to undergo carotid artery stenting: a DPB was used in 82 cases (DPB group) from April 2007 until June 2010, and a DPF was used in 82 cases (DPF group) from July 2010 to July 2011. Rates of positive findings on postoperative diffusion-weighted imaging (DWI) and stroke incidence were compared. Positive postoperative DWI results were found in 34 cases in the DPB group (41.4 %), but in only 22 cases in the DPF group (26.8 %), and there was only a small significant difference within the DPF group. In the DPB group, there was one case of transient ischemic attack (TIA) (1.2 %) and four cases of brain infarction (2 minor strokes, 2 major strokes; 4.9 %), compared to the DFP group with one case of TIA (1.2 %) and no cases of minor or major strokes. In this study, significantly lower rates of occurrence of DWI ischemic lesions and intraoperative embolization were associated with use of the DPF compared to the DPB.

  18. Cohesin in determining chromosome architecture

    Energy Technology Data Exchange (ETDEWEB)

    Haering, Christian H., E-mail: christian.haering@embl.de [Cell Biology and Biophysics Unit, European Molecular Biology Laboratory (EMBL), Heidelberg (Germany); Jessberger, Rolf, E-mail: rolf.jessberger@tu-dresden.de [Institute of Physiological Chemistry, Dresden University of Technology, Dresden (Germany)

    2012-07-15

    Cells use ring-like structured protein complexes for various tasks in DNA dynamics. The tripartite cohesin ring is particularly suited to determine chromosome architecture, for it is large and dynamic, may acquire different forms, and is involved in several distinct nuclear processes. This review focuses on cohesin's role in structuring chromosomes during mitotic and meiotic cell divisions and during interphase.

  19. Sex chromosomes in Ephestia kuehniella

    Czech Academy of Sciences Publication Activity Database

    Marec, František; Sahara, K.; Traut, W.

    2001-01-01

    Roč. 44, č. 1 (2001), s. 131 ISSN 0003-3995. [European Cytogenetics Conference /3./. 07.07.2001-10.07.2001, Paris] Institutional research plan: CEZ:AV0Z5007907 Keywords : Telomere * sex chromosomes * chromosome fragments Subject RIV: EB - Genetics ; Molecular Biology

  20. Slit scan flow cytometry of isolated chromosomes following fluorescence hybridization: an approach of online screening for specific chromosomes and chromosome translocations

    NARCIS (Netherlands)

    Hausmann, M.; Dudin, G.; Aten, J. A.; Heilig, R.; Diaz, E.; Cremer, C.

    1991-01-01

    The recently developed methods of non radioactive in situ hybridization of chromosomes offer new aspects for chromosome analysis. Fluorescent labelling of hybridized chromosomes or chromosomal subregions allows to facilitate considerably the detection of specific chromosomal abnormalities. For many

  1. Mini-implant-supported Molar Distalization

    Directory of Open Access Journals (Sweden)

    Amit Goyal

    2012-01-01

    Full Text Available Temporary anchorage devices popularly called mini-implants or miniscrews are the latest addition to an orthodontist′s armamentarium. The following case report describes the treatment of a 16-year-old girl with a pleasant profile, moderate crowding and Angle′s Class II molar relationship. Maxillary molar distalization was planned and mini-implants were used to preserve the anterior anchorage. After 13 months of treatment, Class I molar and canine relation was achieved bilaterally and there was no anterior proclination. Thus, mini-implants provide a viable option to the clinician to carry out difficult tooth movements without any side effects.

  2. Periosteal osteoblastoma of the distal femur

    Energy Technology Data Exchange (ETDEWEB)

    Nakatani, Tetsuya; Yamamoto, Tetsuji; Akisue, Toshihiro; Marui, Takashi; Hitora, Toshiaki; Kawamoto, Teruya; Nagira, Keiko; Yoshiya, Shinichi; Kurosaka, Masahiro [Department of Orthopaedic Surgery, Kobe University Graduate School of Medicine, 7-5-1 Kusunoki-cho, Chuo-ku, Kobe (Japan); Fujita, Ikuo; Matsumoto, Keiji [Department of Orthopaedic Surgery, Hyogo Medical Center for Adults, Akashi, Hyogo (Japan)

    2004-02-01

    Osteoblastomas located on the surface of the cortical bone, so-called periosteal osteoblastomas, are extremely rare. We report on a case of periosteal osteoblastoma arising from the posterior surface of the right distal femur in a 17-year-old man. Roentgenographic, computed tomographic, magnetic resonance imaging, and histologic features of the case are presented. Periosteal osteoblastoma should be radiologically and histologically differentiated from myositis ossificans, avulsive cortical irregularity syndrome, osteoid osteoma, parosteal osteosarcoma, periosteal osteosarcoma, and high-grade surface osteosarcoma. Although periosteal osteoblastoma is rare, this tumor should be included in the differential diagnosis of surface-type bone tumors. (orig.)

  3. Schizophrenia and chromosomal deletions

    Energy Technology Data Exchange (ETDEWEB)

    Lindsay, E.A.; Baldini, A. [Baylor College of Medicine, Houston, TX (United States); Morris, M. A. [Univ. of Geneva School of Medicine, NY (United States)] [and others

    1995-06-01

    Recent genetic linkage analysis studies have suggested the presence of a schizophrenia locus on the chromosomal region 22q11-q13. Schizophrenia has also been frequently observed in patients affected with velo-cardio-facial syndrome (VCFS), a disorder frequently associated with deletions within 22q11.1. It has been hypothesized that psychosis in VCFS may be due to deletion of the catechol-o-methyl transferase gene. Prompted by these observations, we screened for 22q11 deletions in a population of 100 schizophrenics selected from the Maryland Epidemiological Sample. Our results show that there are schizophrenic patients carrying a deletion of 22q11.1 and a mild VCFS phenotype that might remain unrecognized. These findings should encourage a search for a schizophrenia-susceptibility gene within the deleted region and alert those in clinical practice to the possible presence of a mild VCFS phenotype associated with schizophrenia. 9 refs.

  4. Radiographic anatomy of the distal dural SAC

    International Nuclear Information System (INIS)

    Larsen, J.L.; Olsen, K.O.

    1991-01-01

    A radio-anatomical study was performed of the distal dural sac (DS) in 121 patients subjected to myelography. In 83.4% the termination of the DS was located from the upper half of the S1-segment to the lower half of the S2-segment. In the remaining patients the dural terminations were more distally located. The average location of the DS-termination was higher than that found in a previous anatomic study. The inference is that in patients with low-back pain and sciatica, the DS tends to terminate at a higher spinal level than in a non-selected anatomic material. The caudal reduction in sagittal diameter of the DS was less than that of the frontal diameter of the sac. The linear diminution in cross-sectional area of the DS from the level of L3 towards the lumbosacral junction was not correlated with the degree of caudal extension of the DS into the sacrum. Thus the length of the DS and its transverse diameters are independent of each other. These results supported the view that the location of the termination of the DS (and hence that of the spinal cord) is not related to stenosis of the central spinal canal. (orig.)

  5. Maxillary molar distalization with first class appliance.

    Science.gov (United States)

    Ramesh, Namitha; Palukunnu, Biswas; Ravindran, Nidhi; Nair, Preeti P

    2014-02-27

    Non-extraction treatment has gained popularity for corrections of mild-to-moderate class II malocclusion over the past few decades. The distalization of maxillary molars is of significant value for treatment of cases with minimal arch discrepancy and mild class II molar relation associated with a normal mandibular arch and acceptable profile. This paper describes our experience with a 16-year-old female patient who reported with irregularly placed upper front teeth and unpleasant smile. The patient was diagnosed to have angles class II malocclusion with moderate maxillary anterior crowding, deep bite of 4 mm on a skeletal class II base with an orthognathic maxilla and retrognathic mandible and normal growth pattern. She presented an ideal profile and so molar distalization was planned with the first-class appliance. Molars were distalised by 8 mm on the right and left quadrants and class I molar relation achieved within 4 months. The space gained was utilised effectively to align the arch and establish a class I molar and canine relation.

  6. Dermal pocketing following distal finger replantation.

    Science.gov (United States)

    Puhaindran, Mark E; Paavilainen, Pasi; Tan, David M K; Peng, Yeong Pin; Lim, Aymeric Y T

    2010-08-01

    Replantation is an ideal technique for reconstruction following fingertip amputation as it provides 'like for like' total reconstruction of the nail complex, bone pulp tissue and skin with no donor-site morbidity. However, fingertips are often not replanted because veins cannot be found or are thought to be too small to repair. Attempts at 'cap-plasty' or pocketing of replanted tips with and without microvascular anastomosis have been done in the past with varying degrees of success. We prospectively followed up a group of patients who underwent digital replantation and dermal pocketing in the palm to evaluate the outcome of this procedure. There were 10 patients with 14 amputated digits (two thumbs, five index, four middle, two ring and one little) who underwent dermal pocketing of the amputated digit following replantation. Among the 14 digits that were treated with dermal pocketing, 11 survived completely, one had partial atrophy and two were completely lost. Complications encountered included finger stiffness (two patients) and infection of the replanted fingertip with osteomyelitis of the distal phalanx (one patient). We believe that this technique can help increase the chance of survival for distal replantation with an acceptable salvage rate of 85% in our series. Copyright 2009 British Association of Plastic, Reconstructive and Aesthetic Surgeons. Published by Elsevier Ltd. All rights reserved.

  7. Osteoid osteoma of the distal clavicle

    Directory of Open Access Journals (Sweden)

    Bernardo Barcellos Terra

    Full Text Available ABSTRACT The osteoid osteoma is a bone tumor that accounts for 10% of benign tumors. It was described in 1935 by Jaffe, as a tumor that affects the young adult population, with a predominance of males. This study aims to present a case of late diagnosis of a patient with osteoid osteoma of the distal clavicle region. Female patient, 44 years old, non-professional volleyball player, reported pain in the anterior and superior region of the shoulder girdle, specifically in the acromioclavicular joint, which worsened at night and had been treated for nine months as tendinitis of the rotator cuff and acromioclavicular joint arthritis. After confirming the diagnosis, the patient underwent open surgery with resection of the distal clavicle. At two years of follow-up, the patient presents without local pain. In the radiographic evaluation, coracoclavicular distance is preserved and there are no signs of recurrence. Tumors of the shoulder girdle are rare and are often diagnosed late. A high degree of suspicion for the diagnosis of tumors of the shoulder girdle is needed in order to avoid late diagnosis.

  8. Biotin absorption by distal rat intestine

    International Nuclear Information System (INIS)

    Bowman, B.B.; Rosenberg, I.H.

    1987-01-01

    We used the in vivo intestinal loop approach, with short (10-min) and long (3-h) incubations, to examine biotin absorption in proximal jejunum, distal ileum, cecum and proximal colon. In short-term studies, luminal biotin disappearance from rat ileum was about half that observed in the jejunum, whereas absorption by proximal colon was about 12% of that in the jejunum. In 3-h closed-loop studies, the absorption of 1.0 microM biotin varied regionally. Biotin absorption was nearly complete in the small intestine after 3 h; however, only about 15% of the dose had been absorbed in the cecum and 27% in the proximal colon after 3 h. Independent of site of administration, the major fraction of absorbed biotin was recovered in the liver; measurable amounts of radioactive biotin were also present in kidney and plasma. The results support the potential nutritional significance for the rat of biotin synthesized by bacteria in the distal intestine, by demonstrating directly an absorptive capability of mammalian large bowel for this vitamin

  9. [Distal ureteral lithiasis. ESWL versus ambulatory URS].

    Science.gov (United States)

    Miján Ortiz, J L; Gutiérrez Tejero, F; López Carmona, F; Nogueras Ocaña, M; Arrabal Martín, M; Zuluaga Gómez, A

    2001-11-01

    To present the results achieved in the treatment of 1802 distal ureteral stones treated at the Lithotripsy Unit of the San Cecilio University Hospital over the last 10 years (1990-2000). Stones were treated by extracorporeal shock wave lithotripsy (ESWL) or ureteroscopy (URS). ESWL was the initial treatment in 81% of the cases (1460 calculi) and URS in the remaining 19% (342 stones). URS was performed for complication or failed ESWL (102 stones) and ESWL was performed for failed URS, basically due to stone migration (24 stones). Ureterolithotomy was required on 7 occasions. Sedation-analgesia with fentanyl and midazolam was routinely used in URS. Sedation was required in only 55% of the ESWL procedures. Elective ESWL resolved 93% of the cases, a percentage which is similar to that achieved with URS as first treatment. The ESWL retreatment rate was 1.3. URS was successful in 98% of the cases of failed ESWL. There are two treatment modalities for stones in the distal ureter: ESWL and URS. We advocate the use of outpatient URS with sedation preferably in the female patient, impacted stones, obstructive uropathy, stones larger than 2 cm and radiotransparent stones.

  10. A STUDY OF SURGICAL MANAGEMENT OF DISTAL FEMORAL FRACTURES BY DISTAL FEMORAL LOCKING COMPRESSION PLATE OSTEOSYNTHESIS

    Directory of Open Access Journals (Sweden)

    Dema Rajaiah

    2016-08-01

    Full Text Available AIMS AND OBJECTIVES To study the fractures of distal end of femur and the mechanism of injury in distal end femur fractures, the advantages and disadvantages of open reduction and internal fixation of distal end femur fractures by distal femoral locking compression plate osteosynthesis and to analyse the outcome in terms of range of Knee motion, time to union, and limb shortening. RESULTS The mean age of patient is 44 years, 85% are males, road traffic accidents account for majority (80%, right side involved in 70%, Muller’s type C fracture is common, good range of movements is seen 90% of cases and union occurred in 95% in 5 months. The results were assessed using Neer’s score, seven (35% patients had excellent results, eight (40% patients had good results, four (20% patients had fair results and one (5% patient had poor result. CONCLUSION From our study, we conclude that DF-LCP is a safe and reliable implant and has shown excellent to satisfactory results in majority of intra-articular fractures (AO type C. Fixation with locking compression plate showed more effectiveness in severely osteoporotic bones, shorter operative stay, faster recovery, faster union rates and excellent functional outcome.

  11. Mitotic chromosome condensation in vertebrates

    International Nuclear Information System (INIS)

    Vagnarelli, Paola

    2012-01-01

    Work from several laboratories over the past 10–15 years has revealed that, within the interphase nucleus, chromosomes are organized into spatially distinct territories [T. Cremer, C. Cremer, Chromosome territories, nuclear architecture and gene regulation in mammalian cells, Nat. Rev. Genet. 2 (2001) 292–301 and T. Cremer, M. Cremer, S. Dietzel, S. Muller, I. Solovei, S. Fakan, Chromosome territories—a functional nuclear landscape, Curr. Opin. Cell Biol. 18 (2006) 307–316]. The overall compaction level and intranuclear location varies as a function of gene density for both entire chromosomes [J.A. Croft, J.M. Bridger, S. Boyle, P. Perry, P. Teague,W.A. Bickmore, Differences in the localization and morphology of chromosomes in the human nucleus, J. Cell Biol. 145 (1999) 1119–1131] and specific chromosomal regions [N.L. Mahy, P.E. Perry, S. Gilchrist, R.A. Baldock, W.A. Bickmore, Spatial organization of active and inactive genes and noncoding DNA within chromosome territories, J. Cell Biol. 157 (2002) 579–589] (Fig. 1A, A'). In prophase, when cyclin B activity reaches a high threshold, chromosome condensation occurs followed by Nuclear Envelope Breakdown (NEB) [1]. At this point vertebrate chromosomes appear as compact structures harboring an attachment point for the spindle microtubules physically recognizable as a primary constriction where the two sister chromatids are held together. The transition from an unshaped interphase chromosome to the highly structured mitotic chromosome (compare Figs. 1A and B) has fascinated researchers for several decades now; however a definite picture of how this process is achieved and regulated is not yet in our hands and it will require more investigation to comprehend the complete process. From a biochemical point of view a vertebrate mitotic chromosomes is composed of DNA, histone proteins (60%) and non-histone proteins (40%) [6]. I will discuss below what is known to date on the contribution of these two different

  12. Mitotic chromosome condensation in vertebrates

    Energy Technology Data Exchange (ETDEWEB)

    Vagnarelli, Paola, E-mail: P.Vagnarelli@ed.ac.uk

    2012-07-15

    Work from several laboratories over the past 10-15 years has revealed that, within the interphase nucleus, chromosomes are organized into spatially distinct territories [T. Cremer, C. Cremer, Chromosome territories, nuclear architecture and gene regulation in mammalian cells, Nat. Rev. Genet. 2 (2001) 292-301 and T. Cremer, M. Cremer, S. Dietzel, S. Muller, I. Solovei, S. Fakan, Chromosome territories-a functional nuclear landscape, Curr. Opin. Cell Biol. 18 (2006) 307-316]. The overall compaction level and intranuclear location varies as a function of gene density for both entire chromosomes [J.A. Croft, J.M. Bridger, S. Boyle, P. Perry, P. Teague,W.A. Bickmore, Differences in the localization and morphology of chromosomes in the human nucleus, J. Cell Biol. 145 (1999) 1119-1131] and specific chromosomal regions [N.L. Mahy, P.E. Perry, S. Gilchrist, R.A. Baldock, W.A. Bickmore, Spatial organization of active and inactive genes and noncoding DNA within chromosome territories, J. Cell Biol. 157 (2002) 579-589] (Fig. 1A, A'). In prophase, when cyclin B activity reaches a high threshold, chromosome condensation occurs followed by Nuclear Envelope Breakdown (NEB) [1]. At this point vertebrate chromosomes appear as compact structures harboring an attachment point for the spindle microtubules physically recognizable as a primary constriction where the two sister chromatids are held together. The transition from an unshaped interphase chromosome to the highly structured mitotic chromosome (compare Figs. 1A and B) has fascinated researchers for several decades now; however a definite picture of how this process is achieved and regulated is not yet in our hands and it will require more investigation to comprehend the complete process. From a biochemical point of view a vertebrate mitotic chromosomes is composed of DNA, histone proteins (60%) and non-histone proteins (40%) [6]. I will discuss below what is known to date on the contribution of these two different classes

  13. Distal Communication by Chimpanzees (Pan troglodytes): Evidence for Common Ground?

    Science.gov (United States)

    Leavens, David A; Reamer, Lisa A; Mareno, Mary Catherine; Russell, Jamie L; Wilson, Daniel; Schapiro, Steven J; Hopkins, William D

    2015-01-01

    van der Goot et al. (2014) proposed that distal, deictic communication indexed the appreciation of the psychological state of a common ground between a signaler and a receiver. In their study, great apes did not signal distally, which they construed as evidence for the human uniqueness of a sense of common ground. This study exposed 166 chimpanzees to food and an experimenter, at an angular displacement, to ask, "Do chimpanzees display distal communication?" Apes were categorized as (a) proximal or (b) distal signalers on each of four trials. The number of chimpanzees who communicated proximally did not statistically differ from the number who signaled distally. Therefore, contrary to the claim by van der Goot et al., apes do communicate distally. © 2015 The Authors. Child Development © 2015 Society for Research in Child Development, Inc.

  14. Gametocidal chromosomes enhancing chromosome aberration in common wheat induced by 5-azacytidine.

    Science.gov (United States)

    Su, W-Y; Cong, W-W; Shu, Y-J; Wang, D; Xu, G-H; Guo, C-H

    2013-07-08

    The gametocidal (Gc) chromosome from Aegilops spp induces chromosome mutation, which is introduced into common wheat as a tool of chromosome manipulation for genetic improvement. The Gc chromosome functions similar to a restriction-modification system in bacteria, in which DNA methylation is an important regulator. We treated root tips of wheat carrying Gc chromosomes with the hypomethylation agent 5-azacytidine; chromosome breakage and micronuclei were observed in these root tips. The frequency of aberrations differed in wheat containing different Gc chromosomes, suggesting different functions inducing chromosome breakage. Gc chromosome 3C caused the greatest degree of chromosome aberration, while Gc chromosome 3C(SAT) and 2C caused only slight chromosome aberration. Gc chromosome 3C induced different degrees of chromosome aberration in wheat varieties Triticum aestivum var. Chinese Spring and Norin 26, demonstrating an inhibition function in common wheat.

  15. Distal renal tubular acidosis and hepatic lipidosis in a cat.

    Science.gov (United States)

    Brown, S A; Spyridakis, L K; Crowell, W A

    1986-11-15

    Clinical and laboratory evidence of hepatic failure was found in a chronically anorectic cat. Simultaneous blood and urine pH determinations established a diagnosis of distal renal tubular acidosis. The cat did not respond to treatment. Necropsy revealed distal tubular nephrosis and hepatic lipidosis. The finding of distal renal tubular acidosis in a cat with hepatic lipidosis emphasizes the importance of complete evaluation of acid-base disorders in patients.

  16. Structural variations of chromosome 1 R from rye cultivar Jingzhouheimai induced by irradiation

    International Nuclear Information System (INIS)

    Wang Conglei; Zhuang Lifang; Qi Zengjun

    2012-01-01

    Irradiated with 60 Co γ-rays (12 Gy), the pollen of wheat landrace Huixianhong-Secale cereal cv. Jingzhouheimai DA1R was pollinated to the emasculated spikes of Huixianhong. Analyzed with genomic in situ hybridization GISH using gDNA of rye cv. Jingzhouheimai as a probe, four plants with reciprocal translocation, four plants with large segmental translocation and one plant with distal segmental translocation, one plant with one telocentric chromosome were identified from 33 M 1 seeds. The results showed that the translocation frequency was 30.30% and of the total 11 breakage-fusion events, 1 involved centric regions and 10 involved interstitial regions. The experiment showed that pollen irradiation was an effective method to induce wheat alien chromosomal structural variations which could effectively by used in deletion mapping, chromosomal location of important agronomic genes and development of small segmental translocations with target genes. (authors)

  17. Localization of the panhypopituitary dwarf mutation (df) on mouse chromosome 11 in an intersubspecific backcross.

    Science.gov (United States)

    Buckwalter, M S; Katz, R W; Camper, S A

    1991-07-01

    Ames dwarf (df) is an autosomal recessive mutation characterized by severe dwarfism and infertility. This mutation provides a mouse model for panhypopituitarism. The dwarf phenotype results from failure in the differentiation of the cells which produce growth hormone, prolactin, and thyroid stimulating hormone. Using the backcross (DF/B-df/df X CASA/Rk) X DF/B-df/df, we confirmed the assignment of df to mouse chromosome 11 and demonstrated recombination between df and the growth hormone gene. This backcross is an invaluable resource for screening candidate genes for the df mutation. The df locus maps to less than 1 cM distal to Pad-1 (0.85 +/- 0.85 cM). Two new genes localized on mouse chromosome 11, Rpo2-1, and Edp-1, map to a region of conserved synteny with human chromosome 17. The localization of the alpha 1 adrenergic receptor, Adra-1, extends a known region of synteny conservation between mouse chromosome 11 and human chromosome 5, and suggests that a human counterpart to df would map to human chromosome 5.

  18. Frequent gene conversion events between the X and Y homologous chromosomal regions in primates

    Directory of Open Access Journals (Sweden)

    Hirai Hirohisa

    2010-07-01

    Full Text Available Abstract Background Mammalian sex-chromosomes originated from a pair of autosomes. A step-wise cessation of recombination is necessary for the proper maintenance of sex-determination and, consequently, generates a four strata structure on the X chromosome. Each stratum shows a specific per-site nucleotide sequence difference (p-distance between the X and Y chromosomes, depending on the time of recombination arrest. Stratum 4 covers the distal half of the human X chromosome short arm and the p-distance of the stratum is ~10%, on average. However, a 100-kb region, which includes KALX and VCX, in the middle of stratum 4 shows a significantly lower p-distance (1-5%, suggesting frequent sequence exchanges or gene conversions between the X and Y chromosomes in humans. To examine the evolutionary mechanism for this low p-distance region, sequences of a corresponding region including KALX/Y from seven species of non-human primates were analyzed. Results Phylogenetic analysis of this low p-distance region in humans and non-human primate species revealed that gene conversion like events have taken place at least ten times after the divergence of New World monkeys and Catarrhini (i.e., Old World monkeys and hominoids. A KALY-converted KALX allele in white-handed gibbons also suggests a possible recent gene conversion between the X and Y chromosomes. In these primate sequences, the proximal boundary of this low p-distance region is located in a LINE element shared between the X and Y chromosomes, suggesting the involvement of this element in frequent gene conversions. Together with a palindrome on the Y chromosome, a segmental palindrome structure on the X chromosome at the distal boundary near VCX, in humans and chimpanzees, may mediate frequent sequence exchanges between X and Y chromosomes. Conclusion Gene conversion events between the X and Y homologous regions have been suggested, mainly in humans. Here, we found frequent gene conversions in the

  19. Characterization of the chromosomal inversion associated with the Koa mutation in the mouse revealed the cause of skeletal abnormalities

    Directory of Open Access Journals (Sweden)

    Suzuki Hiroetsu

    2009-09-01

    Full Text Available Abstract Background Koala (Koa is a dominant mutation in mice causing bushy muzzle and pinna, and is associated with a chromosomal inversion on the distal half of chromosome 15. To identify the gene responsible for the Koa phenotypes, we investigated phenotypes of Koa homozygous mice and determined the breakpoints of the inversion with a genetic method using recombination between two different chromosomal inversions. Results Skeletal preparation of Koa homozygotes showed marked deformity of the ribs and a wider skull with extended zygomatic arches, in addition to a general reduction in the lengths of long bones. They also had open eyelids at birth caused by a defect in the extension of eyelid anlagen during the embryonic stages. The proximal and distal breakpoints of the Koa inversion were determined to be 0.8-Mb distal to the Trsps1 gene and to 0.1-Mb distal to the Hoxc4 gene, respectively, as previously reported. The phenotypes of mice with the recombinant inverted chromosomes revealed the localization of the gene responsible the Koa phenotype in the vicinity of the proximal recombinant breakpoint. Expression of the Trsps1 gene in this region was significantly reduced in the Koa homozygous and heterozygous embryos. Conclusion While no gene was disrupted by the chromosomal inversion, an association between the Koa phenotype and the proximal recombinant breakpoint, phenotypic similarities with Trps1-deficient mice or human patients with TRSP1 mutations, and the reduced expression of the Trsps1 gene in Koa mice, indicated that the phenotypes of the Koa mice are caused by the altered expression of the Trps1 gene.

  20. Post-transplant distal limb syndrome

    Directory of Open Access Journals (Sweden)

    María Florencia Borghi Torzillo

    2017-02-01

    Full Text Available The post-transplant distal limb syndrome is a not well known entity, with a prevalence of 5% in patients with renal transplant. Its diagnosis is based on clinical symptoms, bone scintigraphy and MRI, it has a benign course and the patient recovers without sequel. We present the case of a 37-year-old male, with medical history of hypertension, Berger's disease in 1999 that required dialysis three times a week for four years (2009-2013 and renal transplant in 2013. The patient consults on January 2014 referring severe pain in both feet, with sudden onset; he remembers the exact date of the beginning of the pain and denies trauma, pain prevents ambulation. The bone scintigraphy shows pathological uptake in both feet with no difference between the two. Although there is no treatment for this disease, it has a benign course

  1. Chromosome fragility in Freemartin cattle

    Directory of Open Access Journals (Sweden)

    V. Barbieri

    2010-04-01

    Full Text Available The aim of the present study was to verify chromosome fragility in freemartin cattle using chromosome aberration (CA and sister chromatid exchange (SCE tests. A total of eighteen co-twins were investigated. Fourteen animals were identified as cytogenetically chimeric (2n=60, XX/XY while 4 were classified as normal. Freemartin cattle showed a higher percentage of aneuploid cells (18.64% and highly significant statistical differences (P < 0.001 in mean values of gaps (4.53 ± 2.05, chromatid breaks (0.26 ± 0.51, and significant statistical differences (P < 0.005 in mean values of chromosome breaks (0.12 ± 0.43 when compared to 10 control animals from single births (aneuploid cells, 11.20%; gaps, 2.01 ± 1.42; chromatid breaks, 0.05 ± 0.22; chromosome breaks, 0.02 ± 0.14.

  2. Are There Knots in Chromosomes?

    Directory of Open Access Journals (Sweden)

    Jonathan T. Siebert

    2017-08-01

    Full Text Available Recent developments have for the first time allowed the determination of three-dimensional structures of individual chromosomes and genomes in nuclei of single haploid mouse embryonic stem (ES cells based on Hi–C chromosome conformation contact data. Although these first structures have a relatively low resolution, they provide the first experimental data that can be used to study chromosome and intact genome folding. Here we further analyze these structures and provide the first evidence that G1 phase chromosomes are knotted, consistent with the fact that plots of contact probability vs sequence separation show a power law dependence that is intermediate between that of a fractal globule and an equilibrium structure.

  3. Flow cytogenetics and chromosome sorting.

    Science.gov (United States)

    Cram, L S

    1990-06-01

    This review of flow cytogenetics and chromosome sorting provides an overview of general information in the field and describes recent developments in more detail. From the early developments of chromosome analysis involving single parameter or one color analysis to the latest developments in slit scanning of single chromosomes in a flow stream, the field has progressed rapidly and most importantly has served as an important enabling technology for the human genome project. Technological innovations that advanced flow cytogenetics are described and referenced. Applications in basic cell biology, molecular biology, and clinical investigations are presented. The necessary characteristics for large number chromosome sorting are highlighted. References to recent review articles are provided as a starting point for locating individual references that provide more detail. Specific references are provided for recent developments.

  4. Localization of introduced genes on the chromosomes of transgenic barley, wheat and triticale by fluorescence in situ hybridization

    DEFF Research Database (Denmark)

    Pedersen, C.; Zimny, J.; Becker, D.

    1997-01-01

    Using fluorescence in situ hybridization (FISH) we localized introduced genes on metaphase chromosomes of barley, wheat, and triticale transformed by microprojectile bombardment of microspores and scutellar tissue with the pDB1 plasmid containing the uidA and bar genes. Thirteen integration sites...... of single-copy integrations. There was a slight tendency towards the localization of transgenes in distal chromosome regions. Using the GAA-satellite sequence for chromosome banding, the chromosomes containing the inserted genes were identified in most cases. Two barley lines derived from the same...... transformant showed a totally different integration pattern. Southern analysis confirmed that the inserted genes were segregating independently, resulting in different integration patterns among the progeny lines. The application of the FISH technique for the analysis of transgenic plants is discussed....

  5. Appearance and evolution of the specific chromosomal rearrangements associated with malignant transformation of mouse m5S cells

    International Nuclear Information System (INIS)

    Kodama, S.; Okumura, Y.; Komatsu, K.; Sasaki, M.S.

    1991-01-01

    Chromosomal alterations were studied during the acquisition of malignant phenotypes in two karyotypically distinct cells isolated from transformed foci induced by x-irradiation in mouse m5S cells. Because the transformants, despite foci origin, showed low ability to grow in agar, they were cultured in vitro with serial transfer schedules to allow further cell generations and assayed for anchorage independence (AI) at each passage level. The AI frequency increased with the cell doubling numbers. Chromosome analysis showed that a focus was one cell origin, but the transformants showed karyotypic instability during cell proliferation, giving rise to the rearrangements clustered in the distal region of the specific chromosomes. These rearrangements appeared to be directed toward the acquisition of malignant phenotypes. Analysis of the types and sites of rearrangements indicated that a mechanism exists that induces frequent rearrangements of the specific region of a chromosome during the process of transformation into the malignant state

  6. Algorithm for sorting chromosomal aberrations

    DEFF Research Database (Denmark)

    Vogel, Ida; Lund, Najaaraq; Rasmussen, Steen

    2018-01-01

    Prenatal diagnostic methods and screening procedures change rapidly in these years. Years ago only karyotyping was performed prenatally, and we monitored only Down syndrome(1) . Since then the diagnostic possibilities have increased to QF-PCR, FISH, MLPA and chromosomal microarray.......Prenatal diagnostic methods and screening procedures change rapidly in these years. Years ago only karyotyping was performed prenatally, and we monitored only Down syndrome(1) . Since then the diagnostic possibilities have increased to QF-PCR, FISH, MLPA and chromosomal microarray....

  7. Assignment of genes to chromosome 4 of the River buffalo with a panel of buffalo-hamster hybrid cells.

    Science.gov (United States)

    Nahas, S M; Hondt, H A; Othman, O S; Bosma, A A; Haan, N A

    1993-01-12

    To identify the river buffalo chromosome carrying the genes coding for GAPD, TPI1, and LDHB, karyotypic examination was carried out on 14 buffalo-hamster hybrid clones previously tested for presence of this syntenic group. In cattle, this group (U3) has been assigned to chromosome 5, which is assumed to be homologous to the long arm of buffalo chromosome 4. Chromosome 4 was present in all five clones expressing the three enzymes, and absent in all seven negative clones, indicating that in the buffalo GAPD, TPI1, and LDHB are located on chromosome 4. One clone, expressing GAPD and TPI1, but not LDHB, was found to carry a translocation between hamster marker chromosome M(2) and buffalo 4q1 → 4qter. In another clone, expressing LDHB, but not GAPD and TPI1, chromosome 4 was absent, while a very small, unidentifiable acrocentric was present. These observations suggest that LDHB is located in the proximal part of 4q1, and that GAPD and TPI1 are located more distally, in 4q1 → 4q2. ZUSAMMENFASSUNG: Lokalisierung von Genen auf Chromosom 4 des Flußbüffels durch Büffel-Hamster-Hybridzellen Zur Identifikation von Flußbüffelchromosomen mit Genen für GAPD, TPI1 und LDHB wurden Karyotypenbestimmungen an 14 Büffel-Hamster-Hybridklonen durchgeführt, die vorher auf Anwesenheit der betreffenden synthenischen Gruppen geprüft worden waren. Bei Rindern wird diese Gruppe (U3) dem Chromosom 5 zugeordnet, welches als homolog mit dem langen Arm des Büffelchromosoms 4 betrachtet wird. Chromosom 4 war in allen fünf Klonen, die die drei Enzyme exprimiert haben, vorhanden und fehlte in allen sieben negativen klonen, so daß angenommen werden kann, daß sich bei Büffeln GAPD, TPI1 und LDHB auf Chromosom 4 befinden. Bei einem Klon, der GAPD und TPI1, aber nicht LDHB zeigte, wurde eine Translokation zwischen dem Hamstermarkerchromosom M2 und Büffel 4q1 → 4qter gefunden. Im einem anderen Klon, der LDHB, nicht aber GAPD und TPI1 zeigte, war Chromosom 4 nicht vorhanden, wohl aber

  8. Comparison of standard laparoscopic distal pancreatectomy with minimally invasive distal pancreatectomy using the da Vinci S system.

    Science.gov (United States)

    Ito, Masahiro; Asano, Yukio; Shimizu, Tomohiro; Uyama, Ichiro; Horiguchi, Akihiko

    2014-01-01

    Minimally invasive procedures for pancreatic pathologies are increasingly being used, including distal pancreatectomy. This study aimed to assess the indications for and outcomes of the da Vinci distal pancreatectomy procedure. We reviewed the medical records of patients who underwent pancreatic head resection from April 2009 to September 2013. Four patients (mean age, 52.7 years) underwent da Vinci distal pancreatectomy and 10 (mean age, 68.0 +/- 12.1 years) underwent laparoscopic distal pancreatectomy. The mean surgical duration was 292 +/- 153 min and 306 +/- 29 min, the mean blood loss was 153 +/- 71 mL and 61.7 +/- 72 mL, and the mean postoperative length of stay was 24 +/- 11 days and 14 +/- 3 days in the da Vinci distal pancreatectomy and laparoscopic distal pancreatectomy groups, respectively. One patient who underwent da Vinci distal pancreatectomy developed a pancreatic fistula, while 2 patients in the laparoscopic distal pancreatectomy group developed splenic ischemia and gastric torsion, respectively. Laparoscopic and robotic pancreatic resection were both safe and feasible in selected patients with distal pancreatic pathologies. Further studies are necessary to clarify the role of robotic surgery in the advanced laparoscopic era.

  9. Diagnostic radiation and chromosome aberrations

    International Nuclear Information System (INIS)

    Patil, S.R.; Hecht, F.; Lubs, H.A.; Kimberling, W.; Brown, J.; Gerald, P.S.; Summitt, R.L.

    1977-01-01

    Some evidence is presented suggesting that diagnostic X-rays may be important in the origin of a new chromosomal abnormality other than Down syndrome. Chromosome analyses have been carried out on 4342 children, seven or eight years old. Maternal diagnostic irradiation in the year before conception and up to third lunar month of the index pregnancy was recorded, before the chromosome study began, together with a large amount of family and clinical data. Information on X-ray exposure was supplied by the mothers, s o radiation dosage could not be estimated. 21 children (including a pair of twins and a pair of siblings) born to 19 mothers had chromosomal aberrations. The mothers of six children with inherited translocations, rearrangements and XYY karyotypes were excluded, and 3 (23%) of the remaining 13 mothers had received abdominal and pelvic X-ray exposures. In the whole sample, however, only 6% of the mothers had diagnostic irradiation. Two of these mothers, aged sixteen and twenty, gave birth to a child each with de-novo autosomal translocations, and the third mother, aged thirty-two, had a child with a complex mosaicism involving one X chromosome. Although the sample size of the mothers with chromosomally abnormal children is small, the results are significant. (U.K.)

  10. Diagnostic radiation and chromosome aberrations

    Energy Technology Data Exchange (ETDEWEB)

    Patil, S R; Hecht, F [Dept. of Pediatrics, Child Development and Rehabilitation Center, Univ. of Oregon Health Sciences Center, Portland, Oregon (USA); Lubs, H A; Kimberling, W; Brown, J; Gerald, P S; Summitt, R L

    1977-01-15

    Some evidence is presented suggesting that diagnostic X-rays may be important in the origin of a new chromosomal abnormality other than Down syndrome. Chromosome analyses have been carried out on 4342 children, seven or eight years old. Maternal diagnostic irradiation in the year before conception and up to third lunar month of the index pregnancy was recorded, before the chromosome study began, together with a large amount of family and clinical data. Information on X-ray exposure was supplied by the mothers, so radiation dosage could not be estimated. 21 children (including a pair of twins and a pair of siblings) born to 19 mothers had chromosomal aberrations. The mothers of six children with inherited translocations, rearrangements and XYY karyotypes were excluded, and 3 (23%) of the remaining 13 mothers had received abdominal and pelvic X-ray exposures. In the whole sample, however, only 6% of the mothers had diagnostic irradiation. Two of these mothers, aged sixteen and twenty, gave birth to a child each with de-novo autosomal translocations, and the third mother, aged thirty-two, had a child with a complex mosaicism involving one X chromosome. Although the sample size of the mothers with chromosomally abnormal children is small, the results are significant.

  11. [Comparison of laparoscopic distal pancreatectomy and open distal pancreatectomy in pancreatic ductal adenocarcinoma].

    Science.gov (United States)

    Xu, K; Su, J J; Su, M; Yan, L; Feng, J; Xin, X L; Chen, Y L

    2017-10-23

    Objective: To compare and evaluate the curative effect of laparoscopic distal pancreatectomy(LDP) and traditional open distal pancreatectomy(ODP) in pancreatic ductal adenocarcinoma. Methods: The clinical data of 15 patients treated by LDP and 87 contemporaneous cases treated by ODP from January 2010 to November 2015 was collected, and the curative effect and prognosis of these patients were retrospectively analyzed. Results: The operation time of LDP group was (286.5±48.1) min, significantly longer than that of OPD group(226.6±56.8) min ( P 0.05). In both LDP group and ODP group, none occurred percutaneous drainage, re-admissions, second operation or perioperative death. Conclusions: Compared to ODP, LDP is much safer and more steady in perioperative periodand operation. Patients of pancreatic ductal adenocarcinoma received LDP can acquire more benefit and recovery sooner, and LDP is a safe and effective operative method.

  12. Designing of plant artificial chromosome (PAC) by using the Chlorella smallest chromosome as a model system.

    Science.gov (United States)

    Noutoshi, Y; Arai, R; Fujie, M; Yamada, T

    1997-01-01

    As a model for plant-type chromosomes, we have been characterizing molecular organization of the Chlorella vulgaris C-169 chromosome I. To identify chromosome structural elements including the centromeric region and replication origins, we constructed a chromosome I specific cosmid library and aligned each cosmid clones to generate contigs. So far, more than 80% of the entire chromosome I has been covered. A complete clonal physical reconstitution of chromosome I provides information on the structure and genomic organization of plant genome. We propose our strategy to construct an artificial chromosome by assembling the functional chromosome structural elements identified on Chrorella chromosome I.

  13. Numerically abnormal chromosome constitutions in humans

    Energy Technology Data Exchange (ETDEWEB)

    NONE

    1993-12-31

    Chapter 24, discusses numerically abnormal chromosome constitutions in humans. This involves abnormalities of human chromosome number, including polyploidy (when the number of sets of chromosomes increases) and aneuploidy (when the number of individual normal chromosomes changes). Chapter sections discuss the following chromosomal abnormalities: human triploids, imprinting and uniparental disomy, human tetraploids, hydatidiform moles, anomalies caused by chromosomal imbalance, 13 trisomy (D{sub 1} trisomy, Patau syndrome), 21 trisomy (Down syndrome), 18 trisomy syndrome (Edwards syndrome), other autosomal aneuploidy syndromes, and spontaneous abortions. The chapter concludes with remarks on the nonrandom participation of chromosomes in trisomy. 69 refs., 3 figs., 4 tabs.

  14. An integrated genetic, physical, and transcriptional map of chromosome 13

    Energy Technology Data Exchange (ETDEWEB)

    Scheffer, H.; Kooy, R.F.; Wijngaard, A. [Univ. of Groningen (Netherlands)] [and others

    1994-09-01

    In this study a genetic map containing 20 markers and typed in 40 CEPH families is presented. It includes 7 thusfar untyped microsatellite markers, 7 that have previously been mapped on a subset of 8 CEPH families, one reference marker, D13S71, and three telomeric VNTR markers. Also, 4 intragenic RB1 markers were typed. The markers have an average heterozygosity of 73% (80%, excluding the three RFLPs). The total sex average length of the map is 140 cM. The mean female to male ratio is 1.54. For the non-telomeric part of the chromosome between the markers D13S221 in 13q12 and D13S173 in 13q33-q34, this ratio is 1.99. This ratio is reversed in the telomeric part of the chromosome between D13S173 and D13S234 in distal 13q34, where it is 0.47. A high new mutation frequency of 1% was detected in the (CTTT(T)){sub n} repeat in intron 20 of the RB1 gene. The map has been integrated with 7 microsatellite markers and 2 RFLP markers from CEPH database version 7.0, resulting in a map with 32 markers (28 loci) of chromosome 13q. In addition, a deletion hybrid breakpoint map ordering 50 markers in 18 intervals is constructed. It includes 32 microsatellite markers, 4 genes, 5 STSs, and 9 ESTs. Each of 18 intervals contains at least one microsatellite marker included in the extended genetic map. These data allow a correlation between the genetic and physical map of chromosome 13. New ESTs are currently being identified and localized at this integrated map.

  15. Mirror-symmetric duplicated chromosome 21q with minor proximal deletion, and with neocentromere in a child without the classical Down syndrome phenotype.

    Science.gov (United States)

    Barbi, G; Kennerknecht, I; Wöhr, G; Avramopoulos, D; Karadima, G; Petersen, M B

    2000-03-13

    We report on a mentally retarded child with multiple minor anomalies and an unusually rearranged chromosome 21. This der(21) chromosome has a deletion of 21p and of proximal 21q, whereas the main portion of 21q is duplicated leading to a mirror-symmetric appearance with the mirror axis at the breakpoint. The centromere is only characterized by a secondary constriction (with a centromeric index of a G chromosome) at an unexpected distal position, but fluorescence in situ hybridization (FISH) with either chromosome specific or with all human centromeres alpha satellite DNA shows no cross hybridization. Thus, the marker chromosome represents a further example of an "analphoid marker with neocentromere." Molecular analysis using polymorphic markers on chromosome 21 verified a very small monosomic segment of the proximal long arm of chromosome 21, and additionally trisomy of the remaining distal segment. Although trisomic for almost the entire 21q arm, our patient shows no classical Down syndrome phenotype, but only a few minor anomalies found in trisomy 21 and in monosomy of proximal 21q, respectively. Copyright 2000 Wiley-Liss, Inc.

  16. Transfer of Hessian fly resistance from rye to wheat via radiation-induced terminal and intercalary chromosomal translocations

    International Nuclear Information System (INIS)

    Friebe, B.; Hatchett, J.H.; Gill, B.S.; Mukai, Y.; Sebesta, E.E.

    1991-01-01

    A new Hessian fly (Mayetiola destructor) resistance gene derived from 'Balbo' rye and its transfer to hexaploid wheat via radiation-induced terminal and intercalary chromosomal translocations are described. Crosses between resistant 'Balbo' rye and susceptible 'Suwon 92' wheat and between the F1 amphidiploids and susceptible 'TAM 106' and 'Amigo' wheats produced resistant BC2F3 lines that were identified by C-banding analysis as being 6RL telocentric addition lines. Comparative chromosomal analyses and resistance tests revealed that the resistance gene is located on the 6RL telocentric chromosome. X-irradiated pollen of 6RL addition plants was used to fertilize plants of susceptible wheats 'TAM 106,' 'TAM 101,' and 'Vona.' After several generations of selection for resistance, new sublines were obtained that were homogeneous for resistance. Thirteen of these lines were analyzed by C-banding, and three different wheat-6RL chromosomal translocations (T) were identified. Wheat chromosomes involved in the translocations were 6B, 4B, and 4A. Almost the complete 6RL arm is present in T6BS · 6BL-6RL. Only the distal half of 6RL is present in T4BS · 4BL-6RL, which locates the resistance gene in the distal half of 6RL. Only a very small segment (ca 1.0 μm) of the distal region of 6RL is present in an intercalary translocation (Ti) Ti4AS · 4AL-6RL-4AL. The 6RL segment is inserted in the intercalary region between the centromere of chromosome 4A and the large proximal C-band of 4AL. The break-points of the translocations are outside the region of the centromere, indicating that they were induced by the X-ray treatment. All three translocations are cytologically stable and can be used directly in wheat breeding programs

  17. Young Children's Sibling Relationship Quality: Distal and Proximal Correlates

    Science.gov (United States)

    Kretschmer, Tina; Pike, Alison

    2009-01-01

    Background: Relationships within families are interdependent and related to distal environmental factors. Low socioeconomic status (SES) and high household chaos (distal factors) have been linked to less positive marital and parent-child relationships, but have not yet been examined with regard to young children's sibling relationships. The…

  18. Distal clavicular osteolysis: MR evidence for subchondral fracture

    Energy Technology Data Exchange (ETDEWEB)

    Kassarjian, Ara; Palmer, William E. [Massachusetts General Hospital, Department of Radiology, Division of Musculoskeletal Radiology, Yawkey Center, Boston, MA (United States); Llopis, Eva [Hospital de la Ribera, Department of Radiology, Valencia (Spain)

    2007-01-15

    To investigate the association between distal clavicular osteolysis and subchondral fractures of the distal clavicle at MRI. This study was approved by the hospital human research committee, which waived the need for informed consent. Three radiologists retrospectively analyzed 36 shoulder MR examinations in 36 patients with imaging findings of distal clavicular osteolysis. The presence of a subchondral fracture of the distal clavicle, abnormalities of the acromioclavicular joint, rotator cuff tears and labral tears were assessed by MRI. These cases were then compared with 36 age-matched controls. At MRI, 31 of 36 patients (86%) had a subchondral line within the distal clavicular edema, consistent with a subchondral fracture. Of the 36 patients, 32 (89%) had fluid in the acromioclavicular joint, while 27 of 36 patients (75%) had cysts or erosions in the distal clavicle. There were 13 patients (36%) with associated labral tears, while eight patients (22%) had partial-thickness rotator cuff tears. In the control group one of 36 (3%) had a subchondral line (P<0.05), while ten of 36 (28%) had rotator cuff tears and 13 of 36 (36%) had labral tears. These latter two were not statistically significant between the groups. A distal clavicular subchondral fracture is a common finding in patients with imaging evidence of distal clavicular osteolysis. These subchondral fractures may be responsible for the propensity of findings occurring on the clavicular side of the acromioclavicular joint. (orig.)

  19. Distal clavicular osteolysis: MR evidence for subchondral fracture

    International Nuclear Information System (INIS)

    Kassarjian, Ara; Palmer, William E.; Llopis, Eva

    2007-01-01

    To investigate the association between distal clavicular osteolysis and subchondral fractures of the distal clavicle at MRI. This study was approved by the hospital human research committee, which waived the need for informed consent. Three radiologists retrospectively analyzed 36 shoulder MR examinations in 36 patients with imaging findings of distal clavicular osteolysis. The presence of a subchondral fracture of the distal clavicle, abnormalities of the acromioclavicular joint, rotator cuff tears and labral tears were assessed by MRI. These cases were then compared with 36 age-matched controls. At MRI, 31 of 36 patients (86%) had a subchondral line within the distal clavicular edema, consistent with a subchondral fracture. Of the 36 patients, 32 (89%) had fluid in the acromioclavicular joint, while 27 of 36 patients (75%) had cysts or erosions in the distal clavicle. There were 13 patients (36%) with associated labral tears, while eight patients (22%) had partial-thickness rotator cuff tears. In the control group one of 36 (3%) had a subchondral line (P<0.05), while ten of 36 (28%) had rotator cuff tears and 13 of 36 (36%) had labral tears. These latter two were not statistically significant between the groups. A distal clavicular subchondral fracture is a common finding in patients with imaging evidence of distal clavicular osteolysis. These subchondral fractures may be responsible for the propensity of findings occurring on the clavicular side of the acromioclavicular joint. (orig.)

  20. Intra-articular osteotomy for distal humerus malunion

    NARCIS (Netherlands)

    Marti, René K.; Doornberg, Job

    2009-01-01

    Intra-articular osteotomy is considered in the rare case of malunion after a fracture of the distal humerus to restore humeral alignment and gain a functional arc of elbow motion. Traumatic and iatrogenic disruption of the limited blood flow to the distal end of the humerus resulting in avascular

  1. Clinical relevance of distal biceps insertional and footprint anatomy

    NARCIS (Netherlands)

    van den Bekerom, Michel P J; Kodde, Izaäk F.; Aster, Asir; Bleys, Ronald L A W; Eygendaal, Denise

    2016-01-01

    Purpose: The aim of this review was to present an overview, based on a literature search, of surgical anatomy for distal biceps tendon repairs, based on the current literature. Methods: A narrative review was performed using Pubmed/Medline using key words: Search terms were distal biceps,

  2. Distal tibiofibular synostosis in a Nigerian: A case report | Owoeye ...

    African Journals Online (AJOL)

    X-ray of the bones showed an oblique fracture in the distal end of the shaft of fibula which is suggestive of post traumatic tibiofibular synostosis (TFS). Knowledge of distal TFS is important in resolving the puzzle of chronic shin pain of unknown origin and in accurate diagnosis of causes of ankle deformity and malformations.

  3. Radiographic study of distal radial physeal closure in thoroughbred horses

    International Nuclear Information System (INIS)

    Vulcano, L.C.; Mamprim, M.J.; Muniz, L.M.R.; Moreira, A.F.; Luna, S.P.L.

    1997-01-01

    Monthly radiography was performed to study distal radial physeal closure in ten male and ten female Throughbred horses. The height, thoracic circumference and metacarpus circumference were also measured, Distal radial physeal closure time was sooner in females than males, and took 701 +/- 37 and 748 +/- 55 days respectively

  4. Sexual dimorphism in white campion: complex control of carpel number is revealed by Y chromosome deletions

    International Nuclear Information System (INIS)

    Lardon, A.; Georgiev, S.; Aghmir, A.; Le Merrer, G.; Negrutiu, I.

    1999-01-01

    Sexual dimorphism in the dioecious plant white campion (Silene latifolia = Melandrium album) is under the control of two main regions on the Y chromosome. One such region, encoding the gynoecium-suppressing function (GSF), is responsible for the arrest of carpel initiation in male flowers. To generate chromosomal deletions, we used pollen irradiation in male plants to produce hermaphroditic mutants (bsx mutants) in which carpel development was restored. The mutants resulted from alterations in at least two GSF chromosomal regions, one autosomal and one located on the distal half of the (p)-arm of the Y chromosome. The two mutations affected carpel development independently, each mutation showing incomplete penetrance and variegation, albeit at significantly different levels. During successive meiotic generations, a progressive increase in penetrance and a reduction in variegation levels were observed and quantified at the level of the Y-linked GSF (GSF-Y). Possible mechanisms are proposed to explain the behavior of the bsx mutations: epigenetic regulation or/and second-site mutation of modifier genes. In addition, studies on the inheritance of the hermaphroditic trait showed that, unlike wild-type Y chromosomes, deleted Y chromosomes can be transmitted through both the male and the female lines. Altogether, these findings bring experimental support, on the one hand, to the existence on the Y chromosome of genic meiotic drive function(s) and, on the other hand, to models that consider that dioecy evolved through multiple mutation events. As such, the GSF is actually a system containing more than one locus and whose primary component is located on the Y chromosome

  5. A FUNCTIONAL EVALUATION STUDY OF DISTAL FEMORAL FRACTURES FIXED WITH DISTAL FEMORAL LOCKING PLATE

    Directory of Open Access Journals (Sweden)

    Manikumar C. J

    2017-04-01

    Full Text Available BACKGROUND Fractures of the distal femur present considerable challenges in management. Older patients especially women sustain fractures due to osteoporosis. Supracondylar fractures of femur have a bimodal distribution. They account for 6% of all femur fractures and 31% if hip fractures were excluded. Nearly, 50% of distal femur intra-articular fractures are open fractures. Before 1970, most supracondylar fractures were treated nonoperatively; however, difficulties were often encountered including persistent angulatory deformity, knee joint incongruity, loss of knee motion and delayed mobilisation. The trend of open reduction and internal fixation has become evident in recent years with good results being obtained with AO blade plate, dynamic condylar screw, intramedullary supracondylar nail and locking compression plate. Elderly patients and osteoporosis pose difficulty in treating intra-articular fractures of the lower end of femur. Loss of stable fixation is of great concern in these cases. Hence, locking compression plate use has an advantage in these patients. MATERIALS AND METHODS In this study, 20 patients with closed fracture of distal femur were studied. All the cases were treated at the Department of Orthopaedics, Rangaraya Medical College/Government General Hospital, Kakinada, Andhra Pradesh, between November 2013 and November 2015. The method used for fracture fixation was open reduction and internal fixation with distal femoral locking plate. The duration of follow up ranged from 3 months to 24 months. All the fractures in this series were posttraumatic. The patients were functionally evaluated with Neer’s scoring system. 1 RESULTS Twenty distal femoral fractures were treated with distal femoral locking plates. 15 patients were males and 5 patients were females. The median age was 47 years ranging from 28-70 years. 16 of the fractures were caused by road traffic accidents and 2 were due to fall, 2 were due to assault. 12 patients

  6. Aurora-A Expression Is Independently Associated with Chromosomal Instability in Colorectal Cancer

    Directory of Open Access Journals (Sweden)

    Yoshifumi Baba

    2009-05-01

    Full Text Available AURKA (the official symbol for Aurora-A, STK15, or BTAK regulates the function of centrosomes, spindles, and kinetochores for proper mitotic progression. AURKA overexpression is observed in various cancers including colon cancer, and a link between AURKA and chromosomal instability (CIN has been proposed. However, no study has comprehensively examined AURKA expression in relation to CIN or prognosis using a large number of tumors. Using 517 colorectal cancers in two prospective cohort studies, we detected AURKA overexpression (by immunohistochemistry in 98 tumors (19%. We assessed other molecular events including loss of heterozygosity (LOH in 2p, 5q, 17q, and 18q, the CpG island methylation phenotype (CIMP, and microsatellite instability (MSI. Prognostic significance of AURKA was evaluated by Cox regression and Kaplan-Meier method. In both univariate and multivariate logistic regressions, AURKA overexpression was significantly associated with CIN (defined as the presence of LOH in any of the chromosomal segments; multivariate odds ratio, 2.97; 95% confidence interval, 1.40–6.29; P = .0045. In multivariate analysis, AURKA was associated with cyclin D1 expression (P = .010 and inversely with PIK3CA mutation (P=.014, fatty acid synthase expression (P=.028, and family history of colorectal cancer (P = .050, but not with sex, age, body mass index, tumor location, stage, CIMP, MSI, KRAS, BRAF, BMI, LINE-1 hypomethylation, p53, p21, β-catenin, or cyclooxygenase 2. AURKA was not significantly associated with clinical outcome or survival. In conclusion, AURKA overexpression is independently associated with CIN in colorectal cancer, supporting a potential role of Aurora kinase-A in colorectal carcinogenesis through genomic instability (rather than epigenomic instability.

  7. Transmission of chromosomal and instability via a chromosome irradiated with ionizing radiation

    International Nuclear Information System (INIS)

    Kodama, Seiji; Tanabe, Masateru; Shiraishi, Kazunori; Oshimura, Mitsuo

    2010-01-01

    We examined the stability of the transferred chromosome in 5 and 12 microcell hybrids including unirradiated human chromosomes 6 and 8, respectively, and 6 and 19 microcell hybrids including 4 Gy-irradiated human chromosomes 6 and 8, respectively. The transferred chromosome was structurally stable in most microcell hybrids transferred with the unirradiated chromosomes 6 and 8. In contrast, the 4 Gy-irradiated human chromosomes were unstable in 3 out of 6 hybrids (50%) with chromosome 6 and 3 out of 19 hybrids (16%) with chromosome 8, showing multiple aberrations in high frequencies (35∼98%). To know the cause of delayed chromosomal instability, intrachromosomal rearrangements of the human chromosome is investigated by subtelomere FISH in 17 microcell hybrids transferred with chromosomes 6 and 8. We found frequent intrachromosomal in 7 microcell hybrids (41%). However, no clear correlation was observed between the intrachromosomal rearrangements and the induction of delayed chromosomal instability by ionizing radiation

  8. Retrospective dosimetry using chromosome painting

    International Nuclear Information System (INIS)

    Nasazzi, N.B.; Giorgio, M.D.; Taja, M.R.

    2000-01-01

    Chromosome aberration frequency measured in peripheral lymphocytes of persons exposed to ionizing radiation has been used since 1960s for dose assessment. Suspected overexposure is usually evaluated by the frequency of dicentrics and centric rings using an appropriate in vitro calibration curve. However, these chromosome aberrations are unstable with time after exposure and dose reconstruction may encounter uncertainties when the time between the exposure and the analysis is considerable or even unknown. It appears that translocations persist with time after exposure and may be used as an indication of acute past overexposures. Moreover, they appear to accumulate the cytogenetical information, which correlates with the dose received under fractionated, chronic or even occupational exposure conditions. Translocations may be detected using G-banding, which allows to score the total amount of radiation induced translocations but it is a time consuming method, or by Chromosome Painting, a method base on the Fluorescence in situ Hybridization (FISH) technique, painting only some chromosome pairs with specific whole chromosome probes and then extrapolating the observed translocation frequencies to the full genome. The latter method allows a faster aberration scoring than G-banding and appears to be the most promissory tool for biodosimetry, particularly when it is necessary to assess low doses and consequently to score a large number of metaphases, e.g. radiation workers exposed within dose limits. As with the unstable chromosome aberration, it is necessary an in vitro calibration curve based on the frequency of stable chromosome aberrations to assess doses. Our laboratory performed calibration curves for Co 60 γ-rays based on the frequencies of unstable (dicentrics and centric rings detected by conventional Giemsa staining) and stable chromosome aberrations (translocations and inversions, detected by G-banding). In order to minimize the interlaboratory variability, we

  9. Rehabilitation for distal radial fractures in adults.

    Science.gov (United States)

    Handoll, Helen H G; Elliott, Joanne

    2015-09-25

    Fracture of the distal radius is a common clinical problem, particularly in older people with osteoporosis. There is considerable variation in the management, including rehabilitation, of these fractures. This is an update of a Cochrane review first published in 2002 and last updated in 2006. To examine the effects of rehabilitation interventions in adults with conservatively or surgically treated distal radial fractures. We searched the Cochrane Bone, Joint and Muscle Trauma Group Specialised Register, the Cochrane Central Register of Controlled Trials (CENTRAL 2014; Issue 12), MEDLINE, EMBASE, CINAHL, AMED, PEDro, OTseeker and other databases, trial registers, conference proceedings and reference lists of articles. We did not apply any language restrictions. The date of the last search was 12 January 2015. Randomised controlled trials (RCTs) or quasi-RCTs evaluating rehabilitation as part of the management of fractures of the distal radius sustained by adults. Rehabilitation interventions such as active and passive mobilisation exercises, and training for activities of daily living, could be used on their own or in combination, and be applied in various ways by various clinicians. The review authors independently screened and selected trials, and reviewed eligible trials. We contacted study authors for additional information. We did not pool data. We included 26 trials, involving 1269 mainly female and older patients. With few exceptions, these studies did not include people with serious fracture or treatment-related complications, or older people with comorbidities and poor overall function that would have precluded trial participation or required more intensive treatment. Only four of the 23 comparisons covered by these 26 trials were evaluated by more than one trial. Participants of 15 trials were initially treated conservatively, involving plaster cast immobilisation. Initial treatment was surgery (external fixation or internal fixation) for all participants

  10. Distal Stressors and Depression among Homeless Men.

    Science.gov (United States)

    Coohey, Carol; Easton, Scott D

    2016-05-01

    Depression is a common problem among homeless men that may interfere with functional tasks, such as securing stable housing, obtaining employment, and accessing health services. Previous research on depression among homeless men has largely focused on current psychosocial resources, substance abuse, and past victimization. Guided by Ensel and Lin's life course stress process model, the authors examined whether distal stressors, including victimization and exposure to parent problems in childhood, contributed to men's depression above and beyond current (or proximal) stressors, such as substance abuse and health problems, and social resources. The sample consisted of 309 homeless men who had entered a federally funded emergency shelter. Using the Burns Depression Checklist, the authors found that one out of three men met the threshold for moderate to severe depression during the past week. The logistic regression showed that past exposure to parent problems was related to depression after accounting for current stressors and social resources (number of close adult relationships and whether their emotional support needs were met). Past victimization was not related to depression. To address men's depression, workers should concurrently provide services that meet men's basic needs (for example, housing) and address their relationship needs, including their need for emotional support.

  11. Radiation-induced chromosomal instability

    International Nuclear Information System (INIS)

    Ritter, S.

    1999-01-01

    Recent studies on radiation-induced chromosomal instability in the progeny of exposed mammalian cells were briefly described as well as other related studies. For the analysis of chromosomal damage in clones, cells were seeded directly after exposure in cell well-dish to form single cell clones and post-irradiation chromosome aberrations were scored. Both exposure to isoeffective doses of X-ray or 270 MeV/u C-ions (13 keV/μm) increased the number of clones with abnormal karyotype and the increase was similar for X-ray and for C-ions. Meanwhile, in the progeny of cells for mass cultures, there was no indication of a delayed expression of chromosomal damage up to 40 population doublings after the exposure. A high number of aberrant cells were only observed directly after exposure to 10.7 MeV/u O-ions, i.e. in the first cycle cells and decreased with subsequent cell divisions. The reason for these differences in the radiation-induced chromosomal instability between clonal isolates and mass culture has not been clarified. Recent studies indicated that genomic instability occurs at a high frequency in the progeny of cells irradiated with both sparsely and densely ionizing radiation. Such genomic instability is thought likely to increase the risk of carcinogenesis, but more data are required for a well understanding of the health risks resulting from radiation-induced delayed instability. (M.N.)

  12. Chromosome segregation in plant meiosis

    Directory of Open Access Journals (Sweden)

    Linda eZamariola

    2014-06-01

    Full Text Available Faithful chromosome segregation in meiosis is essential for ploidy stability over sexual life cycles. In plants, defective chromosome segregation caused by gene mutations or other factors leads to the formation of unbalanced or unreduced gametes creating aneuploid or polyploid progeny, respectively. Accurate segregation requires the coordinated execution of conserved processes occurring throughout the two meiotic cell divisions. Synapsis and recombination ensure the establishment of chiasmata that hold homologous chromosomes together allowing their correct segregation in the first meiotic division, which is also tightly regulated by cell-cycle dependent release of cohesin and monopolar attachment of sister kinetochores to microtubules. In meiosis II, bi-orientation of sister kinetochores and proper spindle orientation correctly segregate chromosomes in four haploid cells. Checkpoint mechanisms acting at kinetochores control the accuracy of kinetochore-microtubule attachment, thus ensuring the completion of segregation. Here we review the current knowledge on the processes taking place during chromosome segregation in plant meiosis, focusing on the characterization of the molecular factors involved.

  13. Radiation exposure and chromosome damage

    International Nuclear Information System (INIS)

    Lloyd, D.

    1979-01-01

    Chromosome damage is discussed as a means of biologically measuring radiation exposure to the body. Human lymphocytes are commonly used for this test since the extent of chromosome damage induced is related to the exposure dose. Several hundred lymphocytes are analysed in metaphase for chromosome damage, particularly dicentrics. The dose estimate is made by comparing the observed dicentric yield against calibration curves, previously produced by in vitro irradiation of blood samples to known doses of different types of radiation. This test is useful when there is doubt that the film badge has recorded a reasonable whole body dose and also when there is an absence of any physical data. A case of deliberate exposure is described where the chromosome damage test estimated an exposure of 152 rads. The life span of cell aberrations is also considered. Regular checks on radiotherapy patients and some accidental overdose cases have shown little reduction in the aberration levels over the first six weeks after which the damage disappears slowly with a half-life of about three years. In conclusion, chromosome studies have been shown to be of value in resolving practical problems in radiological protection. (U.K.)

  14. Chromosomal rearrangement interferes with meiotic X chromosome inactivation

    Czech Academy of Sciences Publication Activity Database

    Homolka, David; Ivánek, Robert; Čapková, Jana; Jansa, Petr; Forejt, Jiří

    2007-01-01

    Roč. 17, č. 10 (2007), s. 1431-1437 ISSN 1088-9051 R&D Projects: GA MŠk(CZ) 1M0520; GA ČR GA301/06/1334; GA ČR GA301/07/1383 Grant - others:Howard Hughes Medical Institute(US) HHMI 55000306 Institutional research plan: CEZ:AV0Z50520514 Keywords : chromosomal translocations * meiotic X chromosome inactivation * spermatogenesis Subject RIV: EB - Genetics ; Molecular Biology Impact factor: 11.224, year: 2007

  15. Translocations of Chromosome End-Segments and Facultative Heterochromatin Promote Meiotic Ring Formation in Evening Primroses[W][OPEN

    Science.gov (United States)

    Golczyk, Hieronim; Massouh, Amid; Greiner, Stephan

    2014-01-01

    Due to reciprocal chromosomal translocations, many species of Oenothera (evening primrose) form permanent multichromosomal meiotic rings. However, regular bivalent pairing is also observed. Chiasmata are restricted to chromosomal ends, which makes homologous recombination virtually undetectable. Genetic diversity is achieved by changing linkage relations of chromosomes in rings and bivalents via hybridization and reciprocal translocations. Although the structural prerequisite for this system is enigmatic, whole-arm translocations are widely assumed to be the mechanistic driving force. We demonstrate that this prerequisite is genome compartmentation into two epigenetically defined chromatin fractions. The first one facultatively condenses in cycling cells into chromocenters negative both for histone H3 dimethylated at lysine 4 and for C-banding, and forms huge condensed middle chromosome regions on prophase chromosomes. Remarkably, it decondenses in differentiating cells. The second fraction is euchromatin confined to distal chromosome segments, positive for histone H3 lysine 4 dimethylation and for histone H3 lysine 27 trimethylation. The end-segments are deprived of canonical telomeres but capped with constitutive heterochromatin. This genomic organization promotes translocation breakpoints between the two chromatin fractions, thus facilitating exchanges of end-segments. We challenge the whole-arm translocation hypothesis by demonstrating why reciprocal translocations of chromosomal end-segments should strongly promote meiotic rings and evolution toward permanent translocation heterozygosity. Reshuffled end-segments, each possessing a major crossover hot spot, can furthermore explain meiotic compatibility between genomes with different translocation histories. PMID:24681616

  16. A comparison between robotic-assisted laparoscopic distal pancreatectomy versus laparoscopic distal pancreatectomy.

    Science.gov (United States)

    Goh, Brian K P; Chan, Chung Yip; Soh, Hui-Ling; Lee, Ser Yee; Cheow, Peng-Chung; Chow, Pierce K H; Ooi, London L P J; Chung, Alexander Y F

    2017-03-01

    This study aims to compare the early perioperative outcomes of robotic-assisted laparoscopic distal pancreatectomy (RDP) versus laparoscopic distal pancreatectomy (LDP). The clinicopathologic features of 45 consecutive patients who underwent minimally-invasive distal pancreatectomy from 2006 to 2015 were retrospectively reviewed. Thirty-nine patients who met our study criteria were included. Eight patients underwent RDP and 31 had LDP. There were 10 (25.6%) open conversions. Six (15.4%) patients had major (> grade 2) morbidities and there was no in-hospital mortality. There were 14 (35.9%) grade A and 9 (23.1%) grade B pancreatic fistulas. Comparison between RDP and LDP demonstrated no significant difference between the patients' baseline characteristics except there was increased frequency of spleen-preserving pancreatectomies (3 (37.5%) vs 25 (80.6%), P=0.016) and splenic-vessel preservation (5 (62.5%) vs 4 (12.9%), P=0.003) in RDP. Comparison between outcomes demonstrated that RDP was associated with a longer median operation time (452.5 (range, 300-685) vs 245 min (range, 85-430), P=0.001) and increased frequency of the procedure completed purely laparoscopically (8 (100%) vs 18 (58.1%), P=0.025). RDP can be safely adopted and is equivalent to LDP in most perioperative outcomes. It is also associated with a decreased frequency of the need for hand-assistance laparoscopic surgery or open conversion but needed a longer operation time. Copyright © 2016 John Wiley & Sons, Ltd. Copyright © 2016 John Wiley & Sons, Ltd.

  17. [A case of mosaic ring chromosome 4 with subtelomeric 4p deletion].

    Science.gov (United States)

    Kim, Jeong Hyun; Oh, Phil Soo; Na, Hye Yeon; Kim, Sun-Hee; Cho, Hyoun Chan

    2009-02-01

    Ring chromosome is a structural abnormality that is thought to be the result of fusion and breakage in the short and long arms of chromosome. Wolf-Hirschhorn syndrome (WHS) is a well-known congenital anomaly in the ring chromosome 4 with a partial deletion of the distal short arm. Here we report a 10-month-old male of mosaic ring chromosome 4 with the chief complaint of severe short stature. He showed the height of -4 standard deviation, subtle hypothyroidism and mild atrial septal defect/ventricular septal defect, and also a mild language developmental delay was suspected. Brain magnetic resonance imaging showed multifocal leukomalacia. Chromosomal analysis of the peripheral blood showed the mosaic karyotype with [46,XY,r(4)(p16q35)[84]/45,XY,-4[9]/91,XXYY, dic r(4;4)(p16q35;p16q35)[5]/46,XY,dic r(4;4)(p16q35;p16q35)[2

  18. Cytogenetic and molecular markers for detecting Aegilops uniaristata chromosomes in a wheat background.

    Science.gov (United States)

    Gong, Wenping; Li, Guangrong; Zhou, Jianping; Li, Genying; Liu, Cheng; Huang, Chengyan; Zhao, Zhendong; Yang, Zujun

    2014-09-01

    Aegilops uniaristata has many agronomically useful traits that can be used for wheat breeding. So far, a Triticum turgidum - Ae. uniaristata amphiploid and one set of Chinese Spring (CS) - Ae. uniaristata addition lines have been produced. To guide Ae. uniaristata chromatin transformation from these lines into cultivated wheat through chromosome engineering, reliable cytogenetic and molecular markers specific for Ae. uniaristata chromosomes need to be developed. Standard C-banding shows that C-bands mainly exist in the centromeric regions of Ae. uniaristata but rarely at the distal ends. Fluorescence in situ hybridization (FISH) using (GAA)8 as a probe showed that the hybridization signal of chromosomes 1N-7N are different, thus (GAA)8 can be used to identify all Ae. uniaristata chromosomes in wheat background simultaneously. Moreover, a total of 42 molecular markers specific for Ae. uniaristata chromosomes were developed by screening expressed sequence tag - sequence tagged site (EST-STS), expressed sequence tag - simple sequence repeat (EST-SSR), and PCR-based landmark unique gene (PLUG) primers. The markers were subsequently localized using the CS - Ae. uniaristata addition lines and different wheat cultivars as controls. The cytogenetic and molecular markers developed herein will be helpful for screening and identifying wheat - Ae. uniaristata progeny.

  19. Unilateral maxillary molar distalization with zygoma-gear appliance.

    Science.gov (United States)

    Kilkis, Dogan; Bayram, Mehmet; Celikoglu, Mevlut; Nur, Metin

    2012-08-01

    The aim of this study was to present the orthodontic treatment of a 15-year-old boy with a unilateral maxillary molar distalization system, called the zygoma-gear appliance. It consisted of a zygomatic anchorage miniplate, an inner bow, and a Sentalloy closed coil spring (GAC International, Bohemia, NY). A distalizing force of 350 g was used during the distalization period. The unilateral Class II malocclusion was corrected in 5 months with the zygoma-gear appliance. The maxillary left first molar showed distalization of 4 mm with an inclination of 3°. The maxillary premolars moved distally with the help of the transseptal fibers. In addition, there were slight decreases in overjet (-0.5 mm) and maxillary incisor inclination (-1°), indicating no anchorage loss from the zygoma-gear appliance. Preadjusted fixed appliances (0.022 × 0.028-in, MBT system; 3M Unitek, Monrovia, Calif) were placed in both arches to achieve leveling and alignment. After 14 months of unilateral distalization with the zygoma-gear appliance and fixed appliances, Class I molar and canine relationships were established with satisfactory interdigitation of the posterior teeth. Acceptable overjet and overbite were also achieved. This article shows that this new system, the zygoma-gear appliance, can be used for unilateral maxillary molar distalization without anchorage loss. Copyright © 2012 American Association of Orthodontists. Published by Mosby, Inc. All rights reserved.

  20. Chromosomal rearrangements in Tourette syndrome

    DEFF Research Database (Denmark)

    Bertelsen, Birgitte; Debes, Nanette Mol; Hjermind, Lena E

    2013-01-01

    , and identification of susceptibility genes through linkage and association studies has been complicated due to inherent difficulties such as no clear mode of inheritance, genetic heterogeneity, and apparently incomplete penetrance. Positional cloning through mapping of disease-related chromosome rearrangements has...... been an efficient tool for the cloning of disease genes in several Mendelian disorders and in a number of complex disorders. Through cytogenetic investigation of 205 TS patients, we identified three possibly disease-associated chromosome rearrangements rendering this approach relevant in chasing TS...

  1. Chromosomal instability determines taxane response

    DEFF Research Database (Denmark)

    Swanton, C.; Nicke, B.; Schuett, M.

    2009-01-01

    chromosomal instability (CIN). Silencing 22/50 of these genes, many of which are involved in DNA repair, caused cancer cell death, suggesting that these genes are involved in the survival of aneuploid cells. Overexpression of these "CIN-survival'' genes is associated with poor outcome in estrogen receptor......-positive breast cancer and occurs frequently in basal-like and Her2-positive cases. In diploid cells, but not in chromosomally unstable cells, paclitaxel causes repression of CIN-survival genes, followed by cell death. In the OV01 ovarian cancer clinical trial, a high level of CIN was associated with taxane...

  2. Potassium transport across guinea pig distal colon

    International Nuclear Information System (INIS)

    Rechkemmer, G.; Halm, D.R.; Frizzell, R.A.

    1986-01-01

    Active absorption and secretion of K was studied by measuring bidirectional 42 K fluxes across short-circuited guinea pig distal colon. Tissues were pretreated with mucosal (m) and serosal (s) indomethacin (1 μM) and amiloride (0.1 mM, m) to suppress spontaneous, electrogenic Cl secretion and Na absorption. Under these conditions, the short-circuit current (I/sub sc/) was 0.4 μeq/cm 2 h while electroneutral K absorption was 2.8 μeq/cm 2 h. Epinephrine (5 μM, s) stimulated electrogenic K secretion, reducing net K absorption to 1.3 μeq/cm 2 h. Bumetanide (0.1 mM, s) abolished this K secretion and restored K absorption to control values, suggesting mechanistic similarities between K and Cl secretion. K absorption was inhibited 40% by the gastric H/K ATPase inhibitor, omeprazole (0.1 mM, m), and was abolished by ouabain (0.1 mM, m). Neutral K absorption does not appear to be mediated by an apical membrane Na/K pump since: the effect of mucosal ouabain on K absorption does not require the presence of mucosal or serosal Na, unidirectional Na fluxes are not influenced by mucosal ouabain, and K absorption is not affected when Na absorption is abolished by amiloride. Net K transport is determined by the balance between electroneutral K absorption and electrogenic K secretion. The ouabain sensitivity of K absorption suggests that colonic H/K ATPase differs from its gastric counterpart

  3. Histology of the distal dural ring.

    Science.gov (United States)

    Graffeo, Christopher S; Perry, Avital; Copeland, William R; Raghunathan, Aditya; Link, Michael J

    2017-09-01

    The distal dural ring (DDR) is a conserved intracranial anatomic structure marking the boundary point at which the internal carotid artery (ICA) exits the cavernous sinus (CS) and enters the subarachnoid space. Although the CS has been well described in a range of anatomic studies, to our knowledge no prior study has analyzed the histologic relationship between the ICA and DDR. Correspondingly, our objective was to assess the relationship of the DDR to the ICA and determine whether the DDR can be dissected from the ICA and thus divided, or can only be circumferentially trimmed around the artery. The authors examined ten fresh-frozen, adult cadaveric specimens. A standard frontotemporal craniotomy, orbito-optic osteotomy, and extradural anterior clinoidectomy was performed bilaterally. The cavernous ICA, DDR, and supraclinoid ICA were harvested as an en bloc specimen. Specimens formalin-fixed and paraffin-embedded prior to routine histochemical staining with hematoxylin and eosin and Masson trichrome. In all specimens, marked microscopic investment of the DDR throughout the ICA adventitia was noted. Dural collagen fibers extensively permeated the arterial layers superficial to the muscularis propria, with no evidence of a clear separation between the DDR and arterial adventitia. Histologic analysis suggests that the ICA and DDR are highly interrelated, continuous structures, and therefore attempted intraoperative dissection between these structures may carry an elevated risk of injury to the ICA. We correspondingly recommend careful circumferential trimming of the DDR in lieu of direct dissection in cases requiring mobilization of the clinoidal ICA. Clin. Anat. 30:742-746, 2017. © 2017Wiley Periodicals, Inc. © 2017 Wiley Periodicals, Inc.

  4. Two-wave propagation in in vitro swine distal ulna

    Science.gov (United States)

    Mano, Isao; Horii, Kaoru; Matsukawa, Mami; Otani, Takahiko

    2015-07-01

    Ultrasonic transmitted waves were obtained in an in vitro swine distal ulna specimen, which mimics a human distal radius, that consists of interconnected cortical bone and cancellous bone. The transmitted waveforms appeared similar to the fast waves, slow waves, and overlapping fast and slow waves measured in the specimen after removing the surface cortical bone (only cancellous bone). In addition, the circumferential waves in the cortical bone and water did not affect the fast and slow waves. This suggests that the fast-and-slow-wave phenomenon can be observed in an in vivo human distal radius.

  5. Intra-Articular Osteotomy for Distal Humerus Malunion

    Directory of Open Access Journals (Sweden)

    René K. Marti

    2009-01-01

    Full Text Available Intra-articular osteotomy is considered in the rare case of malunion after a fracture of the distal humerus to restore humeral alignment and gain a functional arc of elbow motion. Traumatic and iatrogenic disruption of the limited blood flow to the distal end of the humerus resulting in avascular necrosis of capitellum or trochlea is a major pitfall of the this technically challenging procedure. Two cases are presented which illustrate the potential problems of intra-articular osteotomy for malunion of the distal humerus.

  6. 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.

  7. Loss of heterozygosity on the X chromosome in human breast cancer.

    Science.gov (United States)

    Loupart, M L; Adams, S; Armour, J A; Walker, R; Brammar, W; Varley, J

    1995-08-01

    The analysis of loss of heterozygosity (LOH) in tumours can be a powerful tool for mapping the sites of tumour suppressor genes in the human genome. A panel of breast cancer patients was assembled as pairs of tumour and lymphocyte DNA samples and LOH studies carried out by Southern hybridisation with polymorphic loci mapping to the X chromosome with appropriate controls. Deletion mapping revealed a high frequency of small regionalised deletions, defining at least three independent regions, one of which is particularly well mapped to a 500 kb stretch of DNA in the distal portion of the pseudoautosomal region of Xp. A second region has been identified within the pseudoautosomal region close to the pseudoautosomal boundary, and there is a third discrete site of loss on distal Xq. Perturbations of sequences at these regions represent independent events in a number of patients. This study represents the first detailed analysis of LOH on the X chromosome in human breast tumours, the results of which indicate that at least three regions of this chromosome are involved in the disease.

  8. DNA Probe Pooling for Rapid Delineation of Chromosomal Breakpoints

    Energy Technology Data Exchange (ETDEWEB)

    Lu, Chun-Mei; Kwan, Johnson; Baumgartner, Adolf; Weier, Jingly F.; Wang, Mei; Escudero, Tomas; Munne' , Santiago; Zitzelsberger, Horst F.; Weier, Heinz-Ulrich

    2009-01-30

    Structural chromosome aberrations are hallmarks of many human genetic diseases. The precise mapping of translocation breakpoints in tumors is important for identification of genes with altered levels of expression, prediction of tumor progression, therapy response, or length of disease-free survival as well as the preparation of probes for detection of tumor cells in peripheral blood. Similarly, in vitro fertilization (IVF) and preimplantation genetic diagnosis (PGD) for carriers of balanced, reciprocal translocations benefit from accurate breakpoint maps in the preparation of patient-specific DNA probes followed by a selection of normal or balanced oocytes or embryos. We expedited the process of breakpoint mapping and preparation of case-specific probes by utilizing physically mapped bacterial artificial chromosome (BAC) clones. Historically, breakpoint mapping is based on the definition of the smallest interval between proximal and distal probes. Thus, many of the DNA probes prepared for multi-clone and multi-color mapping experiments do not generate additional information. Our pooling protocol described here with examples from thyroid cancer research and PGD accelerates the delineation of translocation breakpoints without sacrificing resolution. The turnaround time from clone selection to mapping results using tumor or IVF patient samples can be as short as three to four days.

  9. Molecular organization and chromosomal localization of 5S rDNA in Amazonian Engystomops (Anura, Leiuperidae).

    Science.gov (United States)

    Rodrigues, Débora Silva; Rivera, Miryan; Lourenço, Luciana Bolsoni

    2012-03-20

    For anurans, knowledge of 5S rDNA is scarce. For Engystomops species, chromosomal homeologies are difficult to recognize due to the high level of inter- and intraspecific cytogenetic variation. In an attempt to better compare the karyotypes of the Amazonian species Engystomops freibergi and Engystomops petersi, and to extend the knowledge of 5S rDNA organization in anurans, the 5S rDNA sequences of Amazonian Engystomops species were isolated, characterized, and mapped. Two types of 5S rDNA, which were readily differentiated by their NTS (non-transcribed spacer) sizes and compositions, were isolated from specimens of E. freibergi from Brazil and E. petersi from two Ecuadorian localities (Puyo and Yasuní). In the E. freibergi karyotypes, the entire type I 5S rDNA repeating unit hybridized to the pericentromeric region of 3p, whereas the entire type II 5S rDNA repeating unit mapped to the distal region of 6q, suggesting a differential localization of these sequences. The type I NTS probe clearly detected the 3p pericentromeric region in the karyotypes of E. freibergi and E. petersi from Puyo and the 5p pericentromeric region in the karyotype of E. petersi from Yasuní, but no distal or interstitial signals were observed. Interestingly, this probe also detected many centromeric regions in the three karyotypes, suggesting the presence of a satellite DNA family derived from 5S rDNA. The type II NTS probe detected only distal 6q regions in the three karyotypes, corroborating the differential distribution of the two types of 5S rDNA. Because the 5S rDNA types found in Engystomops are related to those of Physalaemus with respect to their nucleotide sequences and chromosomal locations, their origin likely preceded the evolutionary divergence of these genera. In addition, our data indicated homeology between Chromosome 5 in E. petersi from Yasuní and Chromosomes 3 in E. freibergi and E. petersi from Puyo. In addition, the chromosomal location of the type II 5S r

  10. Combined open proximal and stent-graft distal repair for distal arch aneurysms: an alternative to total debranching.

    Science.gov (United States)

    Zierer, Andreas; Sanchez, Luis A; Moon, Marc R

    2009-07-01

    We present herein a novel, combined, simultaneous open proximal and stent-graft distal repair for complex distal aortic arch aneurysms involving the descending aorta. In the first surgical step, the transverse arch is opened during selective antegrade cerebral perfusion, and a Dacron graft (DuPont, Wilmington, DE) is positioned down the descending aorta in an elephant trunk-like fashion with its proximal free margin sutured circumferentially to the aorta just distal to the left subclavian or left common carotid artery. With the graft serving as the new proximal landing zone, subsequent endovascular repair is performed antegrade during rewarming through the ascending aorta.

  11. Genetics Home Reference: ring chromosome 20 syndrome

    Science.gov (United States)

    ... drugs. Prolonged seizure episodes known as non-convulsive status epilepticus also appear to be characteristic of ring chromosome ... K, Takahashi Y. Ring chromosome 20 and nonconvulsive status epilepticus. A new epileptic syndrome. Brain. 1997 Jun;120 ( ...

  12. Chromosomal disorders and male infertility

    Institute of Scientific and Technical Information of China (English)

    Gary L Harton; Helen G Tempest

    2012-01-01

    infertility in humans is surprisingly common occurring in approximately 15% of the population wishing to start a family.Despite this,the molecular and genetic factors underlying the cause of infertility remain largely undiscovered.Nevertheless,more and more genetic factors associated with infertility are being identified.This review will focus on our current understanding of the chromosomal basis of male infertility specifically:chromosomal aneuploidy,structural and numerical karyotype abnormalities and Y chromosomal microdeletions.Chromosomal aneuploidy is the leading cause of pregnancy loss and developmental disabilities in humans.Aneuploidy is predominantly maternal in origin,but concerns have been raised regarding the safety of intracytoplasmic sperm injection as infertile men have significantly higher levels of sperm aneuploidy compared to their fertile counterparts.Males with numerical or structural karyotype abnormalities are also at an increased risk of producing aneuploid sperm.Our current understanding of how sperm aneuploidy translates to embryo aneuploidy will be reviewed,as well as the application of preimplantation genetic diagnosis (PGD) in such cases.Clinical recommendations where possible will be made,as well as discussion of the use of emerging array technology in PGD and its potential applications in male infertility.

  13. CHROMOSOMAL MULTIPLICITY IN BURKHOLDERIA CEPACIA

    Science.gov (United States)

    We have used CHEF gel electrophoresis to screen preparations of large DNA from different Burkholderia cepacia isolates for the presence of DNA species corresponding to the linearized forms of the three chromosomes of 3.4,2.5, and 0.9 Mb identified in B. cepacia strain 17616. DNA ...

  14. early functional outcome of distal femoral fractures at kenyatta

    African Journals Online (AJOL)

    The leading cause was RTA, followed by falls from a height. ... Distal femoral fractures cause considerable morbidity .... as means and standard deviations. .... Anaesthesia. Spinal. 37 (80). General Anaesthesia (GA). 9 (20). Transfusion.

  15. Subtrochanteric and Distal Femur Fractures in a Patient with ...

    African Journals Online (AJOL)

    This study reports the surgical management for this rare case and the treatment ... car accident and presented closed femoral shaft fracture associated with a ... to fix the distal femur fracture, enhancing the construction stability [Figures 4 and 5].

  16. Minimally invasive percutaneous plate fixation of distal tibia fractures.

    LENUS (Irish Health Repository)

    Bahari, Syah

    2007-10-01

    We report a series of 42 patients reviewed at a mean of 19.6 months after treatment of distal tibial and pilon fractures using the AO distal tibia locking plate with a minimally invasive percutaneous plate osteosynthesis (MIPPO) technique. Mean time to union was 22.4 weeks. All fractures united with acceptable alignment and angulation. Two cases of superficial infection were noted, with one case of deep infection. Mean SF36 score was 85 and mean AOFAS score was 90 at a mean of 19 months follow-up. We report satisfactory outcomes with the use of the AO distal tibia locking plate in treatment of unstable distal tibial fractures. Eighty-nine percent of the patients felt that they were back to their pre injury status and 95% back to their previous employment.

  17. Surgical treatment of distal biceps tendon rupture: a case report

    Directory of Open Access Journals (Sweden)

    Cristina N. Cozma

    2017-11-01

    Full Text Available Objectives. Distal biceps tendon rupture affects the functional upperextremity movement, impairing supination and flexion strength. According to age, profession and additional risks treatment might be nonoperative or surgical. Methods. We describe the case of a 43 years old male patient who sustained an injury to his right distal biceps and was diagnosed with acute right distal biceps rupture. Surgical treatment was decided and biceps tendon was reinserted to the radius tuberosity using a combination of a cortical button fixation associated with an interference screw. Results. Postoperative functional result was favorable with no complications and with no movement limitation after one month. Conclusions. When possible, distal biceps tendon repair should be realized surgically because this permits restoring of the muscle strength to near normal levels with no loss of motion. Nerve complications are common; therefore the surgery should be realized by experienced upper extremity surgeons.

  18. Genetics Home Reference: distal 18q deletion syndrome

    Science.gov (United States)

    ... 18q deletion syndrome chromosome 18q monosomy chromosome 18q- syndrome De Grouchy syndrome del(18q) syndrome monosomy 18q Related Information How ... MS, Tienari PJ, Wirtavuori KO, Valanne LK. 18q-syndrome: brain MRI shows poor differentiation of gray and white matter on ... RL, Hale DE, Rose SR, Leach RJ, Cody JD. The spectrum ...

  19. New distal marker closely linked to the fragile X locus

    NARCIS (Netherlands)

    Hulsebos, T. J.; Oostra, B. A.; Broersen, S.; Smits, A.; van Oost, B. A.; Westerveld, A.

    1991-01-01

    We have isolated II-10, a new X-chromosomal probe that identifies a highly informative two-allele TaqI restriction fragment length polymorphism at locus DXS466. Using somatic cell hybrids containing distinct portions of the long arm of the X chromosome, we could localize DXS466 between DXS296 and

  20. Enclavado endomedular en fracturas del tercio distal de la tibia

    OpenAIRE

    Arroquy, Damian; Chahla, Jorge; Gomez Rodriguez, Gustavo; Cid Casteulani, Alberto; Svarzchtein, Santiago; Gomez, Diego; Pesciallo, Cesar

    2015-01-01

    Objetivo: Describir los resultados obtenidos con el enclavado endomedular acerrojado en pacientes con fractura del tercio distal de la tibia. Materiales y Métodos: Se incluyeron pacientes con fracturas desplazadas del tercio distal de la tibia, tratadas con clavo endomedular. La muestra incluyo 35 pacientes. El tiempo de seguimiento posoperatorio fue de 29.2 meses. Se evaluaron el tiempo de consolidacion, la consolidacion viciosa y las complicaciones. Los resultados funcionales se determinaro...

  1. Fractures of the Distal Tibia Treated with Polyaxial Locking Plating

    OpenAIRE

    Gao, Hong; Zhang, Chang-Qing; Luo, Cong-Feng; Zhou, Zu-Bin; Zeng, Bing-Fang

    2008-01-01

    We evaluated the healing rate, complications, and functional outcomes in 32 adult patients with very short metaphyseal fragments in fractures of the distal tibia treated with a polyaxial locking system. The average distance from the distal extent of the fracture to the tibial plafond was 11 mm. All fractures healed and the average time to union was 14 weeks. Six patients (19%) reported occasional local disturbance over the medial malleolus. There were two cases of postoperative superficial in...

  2. Interleukin 3 gene is located on human chromosome 5 and is deleted in myeloid leukemias with a deletion of 5q

    International Nuclear Information System (INIS)

    Le Beau, M.M.; Epstein, N.D.; O'Brien, S.J.; Nienhuis, A.W.; Yang, Y.C.; Clark, S.C.; Rowley, J.D.

    1987-01-01

    The gene IL-3 encodes interleukin 3, a hematopoietic colony-stimulating factor (CSF) that is capable of supporting the proliferation of a broad range of hematopoietic cell types. By using somatic cell hybrids and in situ chromosomal hybridization, the authors localized this gene to human chromosome 5 at bands q23-31, a chromosomal region that is frequently deleted [del(5q)] in patients with myeloid disorders. By in situ hybridization, IL-3 was found to be deleted in the 5q-chromosome of one patient with refractory anemia who had a del(5)(q15q33.3), of three patients with refractory anemia (two patients) or acute nonlymphocytic leukemia (ANLL) de novo who had a similar distal breakpoint [del(5)(q13q33.3)], and of a fifth patient, with therapy-related ANLL, who had a similar distal breakpoint in band q33[del(5)(q14q33.3)]. Southern blot analysis of somatic cell hybrids retaining the normal or the deleted chromosome 5 from two patients with the refractory anemia 5q- syndrome indicated that IL-3 sequences were absent from the hybrids retaining the deleted chromosome 5 but not from hybrids that had a cytologically normal chromosome 5. Thus, a small segment of chromosome 5 contains IL-3, GM-CSF, CSF-1, and FMS. The findings and earlier results indicating that GM-CSF, CSF-1, and FMS were deleted in the 5q- chromosome, suggest that loss of IL-3 or of other CSF genes may play an important role in the pathogenesis of hematologic disorders associated with a del(5q)

  3. The role of imaging in diagnosing diseases of the distal radioulnar joint, triangular fibrocartilage complex, and distal ulna.

    Science.gov (United States)

    Squires, Judy H; England, Eric; Mehta, Kaushal; Wissman, Robert D

    2014-07-01

    The purpose of this article is to review the anatomy, biomechanics, and multimodality imaging findings of common and uncommon distal radioulnar joint (DRUJ), triangular fibrocartilage complex, and distal ulna abnormalities. The DRUJ is a common site for acute and chronic injuries and is frequently imaged to evaluate chronic wrist pain, forearm dysfunction, and traumatic forearm injury. Given the complex anatomy of the wrist, the radiologist plays a vital role in the diagnosis of wrist pain and dysfunction.

  4. Chromosomal Evolution in Lower Vertebrates: Sex Chromosomes in Neotropical Fishes

    Czech Academy of Sciences Publication Activity Database

    Cioffi, M. de B.; Yano, C. F.; Sember, Alexandr; Bertollo, L.A.C.

    2017-01-01

    Roč. 8, č. 10 (2017), č. článku 258. ISSN 2073-4425 R&D Projects: GA MŠk EF15_003/0000460 Institutional support: RVO:67985904 Keywords : alternative evolutionary models * simple and multiple sex chromosomes * independent and common origins Subject RIV: EB - Genetics ; Molecular Biology OBOR OECD: Genetics and heredity (medical genetics to be 3) Impact factor: 3.600, year: 2016

  5. Microdissection and Chromosome Painting of the Alien Chromosome in an Addition Line of Wheat - Thinopyrum intermedium

    Science.gov (United States)

    Yin, Weibo; Zhang, Yingxin; Chen, Yuhong; Wang, Richard R.-C.; Zhang, Xiangqi; Han, Fangpu; Hu, Zanmin

    2013-01-01

    In this study, chromosome painting was developed and used to identify alien chromosomes in TAi-27, a wheat - Thinopyrum intermedium addition line, and the chromosomes of the three different genomes of Th. Intermedium. The smallest alien chromosome of TAi-27 was microdissected and its DNA amplified by DOP-PCR was used as a probe to hybridize with metaphase chromosomes of TAi-27 and Th . intermedium . Results showed that hybridization signals were observed in all regions of a pair of the smallest alien chromosomes and the pericentromeric area of another pair of alien chromosomes in TAi-27, indicating that the probe from microdissected chromosome is species specific. In Th . intermedium , 14 chromosomes had wide and strong hybridization signals distributed mainly on the pericentromere area and 9 chromosomes with narrow and weak signals on the pericentromere area. The remaining chromosomes displayed a very weak or no signal. Sequential FISH/GISH on Th . intermedium chromosomes using the DNAs of microdissected chromosome, Pseudoroegneria spicata (St genome) and pDbH12 (a Js genome specific probe) as the probes indicated that the microdissected chromosome belonged to the St genome, three genomes (Js, J and St) in Th . intermedium could be distinguished, in which there is no hybridization signal on J genome that is similar to the genome of Th . bessarabicum . Our results showed that the smallest alien chromosomes may represent a truncated chromosome and the repetitive sequence distribution might be similar in different chromosomes within the St genome. However, the repetitive sequence distributions are different within the Js genome, within a single chromosome, and among different genomes in Th . intermedium . Our results suggested that chromosome painting could be feasible in some plants and useful in detecting chromosome variation and repetitive sequence distribution in different genomes of polyploidy plants, which is helpful for understanding the evolution of different

  6. Volar plating for distal radius fractures--do not trust the image intensifier when judging distal subchondral screw length.

    Science.gov (United States)

    Park, Derek H; Goldie, Boyd S

    2012-09-01

    The use of the volar plate to treat distal radius fractures is increasing but despite the theoretical advantages of a volar approach there have been reports of extensor tendon ruptures due to prominent screw tips protruding past the dorsal cortex. The valley in the intermediate column between Lister tubercle and the sigmoid notch of the distal radius makes it difficult to rely on fluoroscopy to judge screw length. Our aim was to quantify the dimensions of this valley and to demonstrate the danger of relying on intraoperative image intensification fluoroscopy to determine lengths of distal screws. We measured the depth of this valley in the intermediate column of the distal radius in 33 patients with computed tomographic (9 patients) or magnetic resonance image (24 patients) scans of the wrist. There was a consistent valley in all images examined [average 1.8 mm (95% confidence interval, 1.6-2.0 mm)]. Thirty-nine percent of wrists had a valley depth of at least 2 mm. Standard lateral views or rotation of the forearm to obtain oblique views does not identify prominent screw tips; and whatever the rotation of the forearm, screw tips protruding beyond dorsal cortex may look as if it is within the bone when in fact it is out. When drilling we suggest noting the depth at which the drill bit just penetrates dorsal cortex and routinely downsize the distal screw length by 2 mm. We caution against relying on flourosocopy when judging the length of the distal subchondral screws.

  7. Hereditary spastic paraplegia and amyotrophy associated with a novel locus on chromosome 19

    Science.gov (United States)

    Meilleur, K.G.; Traoré, M.; Sangaré, M.; Britton, A.; Landouré, G.; Coulibaly, S.; Niaré, B.; Mochel, F.; La Pean, A.; Rafferty, I.; Watts, C.; Littleton-Kearney, M. T.; Blackstone, C.; Singleton, A.; Fischbeck, K.H.

    2010-01-01

    We identified a family in Mali with two sisters affected by spastic paraplegia. In addition to spasticity and weakness of the lower limbs, the patients had marked atrophy of the distal upper extremities. Homozygosity mapping using single nucleotide polymorphism arrays showed that the sisters shared a region of extended homozygosity at chromosome 19p13.11-q12 that was not shared by controls. These findings indicate a clinically and genetically distinct form of hereditary spastic paraplegia with amyotrophy, designated SPG43. PMID:20039086

  8. Linkage of genes for laminin B1 and B2 subunits on chromosome 1 in mouse.

    Science.gov (United States)

    Elliott, R W; Barlow, D; Hogan, B L

    1985-08-01

    We have used cDNA clones for the B1 and B2 subunits of laminin to find restriction fragment length DNA polymorphisms for the genes encoding these polypeptides in the mouse. Three alleles were found for LamB2 and two for LamB1 among the inbred mouse strains. The segregation of these polymorphisms among recombinant inbred strains showed that these genes are tightly linked in the central region of mouse Chromosome 1 between Sas-1 and Ly-m22, 7.4 +/- 3.2 cM distal to the Pep-3 locus. There is no evidence in the mouse for pseudogenes for these proteins.

  9. Dynamics of chromosome segregation in Escherichia coli

    DEFF Research Database (Denmark)

    Nielsen, Henrik Jørck

    2007-01-01

    Since the 1960’es the conformation and segregation of the chromosome in Escherichia coli has been a subject of interest for many scientists. However, after 40 years of research, we still know incredibly little about how the chromosome is organized inside the cell, how it manages to duplicate...... this incredibly big molecule and separate the two daughter chromosomes and how it makes sure that the daughter cells receives one copy each. The fully extended chromosome is two orders of magnitude larger than the cell in which it is contained. Hence the chromosome is heavily compacted in the cell...

  10. A chromosome study of 6-thioguanine-resistant mutants in T lymphocytes of Hiroshima atomic bomb survivors

    International Nuclear Information System (INIS)

    Kodama, Yoshiaki; Hakoda, Masayuki; Shimba, Hachiro; Awa, A.A.; Akiyama, Mitoshi.

    1989-07-01

    Cytogenetic characterizations were made of lymphocyte colonies established from somatic mutation assays for 6-thioguanine (TG) resistance in Hiroshima atomic bomb survivors. G-banded chromosomes were analyzed in both TG-resistant (TG r ) and wild-type (not TG-selected) colonies. Included were 45 TG r and 19 wild-type colonies derived from proximally exposed A-bomb survivors, as well as colonies from distally exposed control individuals who were not exposed to a significant level of A-bomb radiation (18 TG r and 9 wild-type colonies). Various structural and numerical abnormalities of chromosomes were observed in both TG r and wild-type colonies. Aberrations of the X chromosome, on which the hypoxanthine guanine phosphoribosyltransferase (HPRT) locus is present, were found in six colonies: two resistant colonies from controls [45,X/46,XX; 46,X,ins(X)], three resistant colonies [45,X/46,XX/46,X,+mar; 46,X,t(Xq+;14q-); 46,Y,t(Xq-;5q+)], and one wild-type colony [45,X/47,XXX] from proximally exposed persons. In cases with exchange aberrations, each of the break points on the X chromosome was situated proximally to band q26 where the HPRT locus is known to be assigned. DNA replicating patterns were also studied, and it was found that abnormal X chromosomes showed early replicating patterns, while normal X chromosomes showed late replicating patterns. (author)

  11. Molecular and genetic characterization of a radiation-induced structural rearrangement in mouse chromosome 2 causing mutations at the limb deformity and agouti loci

    International Nuclear Information System (INIS)

    Woychik, R.P.; Generoso, W.M.; Russell, L.B.; Cain, K.T.; Cacheiro, N.L.; Bultman, S.J.; Selby, P.B.; Dickinson, M.E.; Hogan, B.L.

    1990-01-01

    Molecular characterization of mutations in the mouse, particularly those involving agent-induced major structural alterations, is proving to be useful for correlating the structure and expression of individual genes with their function in the whole organism. Here we present the characterization of a radiation-induced mutation that simultaneously generated distinct alleles of both the limb deformity (ld) and agouti (a) loci, two developmentally important regions of chromosome 2 normally separated by 20 centimorgans. Cytogenetic analysis revealed that an interstitial segment of chromosome 17 (17B- 17C; or, possibly, 17A2-17B) had been translocated into the distal end of chromosome 2, resulting in a smaller-than-normal chromosome 17 (designated 17del) and a larger form of chromosome 2 designated 2(17). Additionally, a large interstitial segment of the 2(17) chromosome, immediately adjacent and proximal to the insertion site, did not match bands 2E4-2H1 at corresponding positions on a normal chromosome 2. Molecular analysis detected a DNA rearrangement in which a portion of the ld locus was joined to sequences normally tightly linked to the a locus. This result, along with the genetic and cytogenetic data, suggests that the alleles of ld and a in this radiation-induced mutation, designated ldIn2 and ajIn2, were associated with DNA breaks caused by an inversion of an interstitial segment in the 2(17) chromosome

  12. Arthroplasty of the distal ulna distal in managing patients with post-traumatic disorders of the distal radioulnar joint: measurement of quality of life

    Directory of Open Access Journals (Sweden)

    Marcio Aurélio Aita

    2015-12-01

    Full Text Available ABSTRACT OBJECTIVE: To measure the quality of life and clinical-functional results from patients diagnosed with osteoarthrosis of the distal radioulnar joint who underwent surgical treatment using the technique of total arthroplasty of the ulna, with a total or partial Ascension(r prosthesis of the distal ulna. METHODS: Ten patients were evaluated after 12 months of follow-up subsequent to total or partial arthroplasty of the distal ulna. All of them presented post-traumatic osteoarthrosis and/or chronic symptomatic instability of the distal radioulnar joint. The study was prospective. Seven patients had previously undergone wrist procedures (two cases with Darrach, three with Sauvé-Kapandji and two with ligament reconstruction of the fibrocartilage complex and three presented fractures of the distal ulna that evolved with pain, instability and osteoarthrosis of the distal radioulnar joint. The following were assessed: quality of life (DASH scale; percentage degree of palm grip strength (kgf and pronosupination range of motion in relation to the unaffected side; pain (VAS; return to work; subjective evaluation of radiography; and complications. RESULTS: The patients presented a mean range of motion of 174.5° (normal side: 180°. Quality of life was analyzed by applying the DASH questionnaire and the mean value found was 5.9. The mean pain score using the VAS was 2.3. The mean degree of palm grip strength (kgf was 50.7, which represented 90.7% of the strength on the unaffected side. The complication rate was 10%: this patient presented slight dorsal instability of the ulna and persistent pain, and did not return to work. This patient is still being followed up in the outpatient clinic and occupational therapy sector, with little improvement. He does not wish to undergo a new procedure. The mean length of follow-up was 16.8 months, with a minimum of 10 and maximum of 36 months. CONCLUSION: This concept is subject to the test of time

  13. Frequencies of chromosome aberration on radiation workers

    International Nuclear Information System (INIS)

    Yanti Lusiyanti; Zubaidah Alatas

    2016-01-01

    Radiation exposure of the body can cause damage to the genetic material in cells (cytogenetic) in the form of changes in the structure or chromosomal aberrations in peripheral blood lymphocytes. Chromosomal aberrations can be unstable as dicentric and ring chromosomes, and is stable as translocation. Dicentric chromosome is the gold standard biomarker due to radiation exposure, and chromosome translocation is a biomarker for retrospective biodosimetry. The aim of this studi is to conduct examination of chromosomal aberrations in the radiation worker to determine the potential damage of cell that may arise due to occupational radiation exposure. The examination have been carried out on blood samples from 55 radiation workers in the range of 5-30 year of service. Chromosome aberration frequency measurement starts with blood sampling, culturing, harvesting, slide preparations, and lymphocyte chromosome staining with Giemsa and painting with Fluorescence In Situ Hybridization (FISH) technique. The results showed that chromosomal translocations are not found in blood samples radiation workers and dicentric chromosomes found only on 2 blood samples of radiation workers with a frequency of 0.001/cell. The frequency of chromosomal aberrations in the blood cells such workers within normal limits and this means that the workers have been implemented a radiation safety aspects very well. (author)

  14. Chromosomal instability induced by ionizing radiation

    International Nuclear Information System (INIS)

    Morgan, W.F.; Marder, B.A.; Day, J.P.

    1995-01-01

    There is accumulating evidence indicating genomic instability can manifest multiple generations after cellular exposure to DNA damaging agents. For instance, some cells surviving exposure to ionizing radiations show delayed reproductive cell death, delayed mutation and / or delayed chromosomal instability. Such instability, especially chromosome destabilization has been implicated in mutation, gene amplification, cellular transformation, and cell killing. To investigate chromosomal instability following DNA damage, we have used fluorescence in situ hybridization to detect chromosomal rearrangements in a human/hamster somatic hybrid cell line following exposure to ionizing radiation. Delayed chromosomal instability was detected when multiple populations of uniquely arranged metaphases were observed in clonal isolates raised from single cells. The relationship between delayed chromosomal destabilization and other endpoints of genomic instability, namely; delayed mutation and gene amplification will be discussed, as will the potential cytogenetic and molecular mechanisms contributing to delayed chromosomal instability

  15. Delayed chromosomal instability induced by DNA damage

    International Nuclear Information System (INIS)

    Morgan, W.F.; Marder, B.A.; Day, J.P.

    1994-01-01

    Cellular exposure to DNA damaging agents rapidly results in a dose dependent increase in chromosomal breakage and gross structural chromosomal rearrangements. Over recent years, evidence has been accumulating indicating genomic instability can manifest multiple generations after cellular exposure to physical and chemical DNA damaging agents. Genomic instability manifests in the progeny of surviving cells, and has been implicated in mutation, gene application, cellular transformation, and cell killing. To investigate chromosome instability following DNA damage, we have used fluorescence in situ hybridization to detect chromosomal rearrangements in a human/hamster somatic hybrid cell line following exposure to ionizing radiation. Delayed chromosomal instability was detected when multiple populations of uniquely arranged metaphases were observed in clonal isolates raised from single cells surviving X-irradiation many generations after exposure. At higher radiation doses, chromosomal instability was observed in a relatively high frequency of surviving clones and, in general, those clones showed delayed chromosome instability also showed reduced survival as measured by colony forming ability

  16. Genome Organization Drives Chromosome Fragility.

    Science.gov (United States)

    Canela, Andres; Maman, Yaakov; Jung, Seolkyoung; Wong, Nancy; Callen, Elsa; Day, Amanda; Kieffer-Kwon, Kyong-Rim; Pekowska, Aleksandra; Zhang, Hongliang; Rao, Suhas S P; Huang, Su-Chen; Mckinnon, Peter J; Aplan, Peter D; Pommier, Yves; Aiden, Erez Lieberman; Casellas, Rafael; Nussenzweig, André

    2017-07-27

    In this study, we show that evolutionarily conserved chromosome loop anchors bound by CCCTC-binding factor (CTCF) and cohesin are vulnerable to DNA double strand breaks (DSBs) mediated by topoisomerase 2B (TOP2B). Polymorphisms in the genome that redistribute CTCF/cohesin occupancy rewire DNA cleavage sites to novel loop anchors. While transcription- and replication-coupled genomic rearrangements have been well documented, we demonstrate that DSBs formed at loop anchors are largely transcription-, replication-, and cell-type-independent. DSBs are continuously formed throughout interphase, are enriched on both sides of strong topological domain borders, and frequently occur at breakpoint clusters commonly translocated in cancer. Thus, loop anchors serve as fragile sites that generate DSBs and chromosomal rearrangements. VIDEO ABSTRACT. Published by Elsevier Inc.

  17. Chromosomes aberations and enviromental factors

    Directory of Open Access Journals (Sweden)

    Marković Srđan Z.

    2017-01-01

    Full Text Available Explanation the topic: Changes in genetic material can lead to aberrant cell in the direction of disorders of cellular regulation, malignant transformation, cell death, or if the adjustment was made at the level of the reproductive cells, to genetic changes in some of the consequent off spring. The topic position in scientific/professional public: Breaking of chromosomes can occur spontaneously or can be induced. Chromatid/chromosome breakings can be induced by different environmental factors: chemicals, biological clastogenic agents, accidentally or intentionally. Conclusions: The authors suggest: - making conditions for strong respect of environmental regulations; - to use higher plants for the early detection of environmental mutagens; - create and orderly update National radionuclide database.

  18. Microdissection and chromosome painting of the alien chromosome in an addition line of wheat-Thinopyrum intermedium

    Science.gov (United States)

    The chromosome painting is an efficient tool for chromosome research. However, plant chromosome painting is relatively underdeveloped. In this study, chromosome painting was developed and used to identify alien chromosomes in TAi-27, a wheat-Thinopyrum intermedium addition line, and chromosomes of...

  19. GSK-3 inhibitors induce chromosome instability

    Directory of Open Access Journals (Sweden)

    Staples Oliver D

    2007-08-01

    Full Text Available Abstract Background Several mechanisms operate during mitosis to ensure accurate chromosome segregation. However, during tumour evolution these mechanisms go awry resulting in chromosome instability. While several lines of evidence suggest that mutations in adenomatous polyposis coli (APC may promote chromosome instability, at least in colon cancer, the underlying mechanisms remain unclear. Here, we turn our attention to GSK-3 – a protein kinase, which in concert with APC, targets β-catenin for proteolysis – and ask whether GSK-3 is required for accurate chromosome segregation. Results To probe the role of GSK-3 in mitosis, we inhibited GSK-3 kinase activity in cells using a panel of small molecule inhibitors, including SB-415286, AR-A014418, 1-Azakenpaullone and CHIR99021. Analysis of synchronised HeLa cells shows that GSK-3 inhibitors do not prevent G1/S progression or cell division. They do, however, significantly delay mitotic exit, largely because inhibitor-treated cells have difficulty aligning all their chromosomes. Although bipolar spindles form and the majority of chromosomes biorient, one or more chromosomes often remain mono-oriented near the spindle poles. Despite a prolonged mitotic delay, anaphase frequently initiates without the last chromosome aligning, resulting in chromosome non-disjunction. To rule out the possibility of "off-target" effects, we also used RNA interference to selectively repress GSK-3β. Cells deficient for GSK-3β exhibit a similar chromosome alignment defect, with chromosomes clustered near the spindle poles. GSK-3β repression also results in cells accumulating micronuclei, a hallmark of chromosome missegregation. Conclusion Thus, not only do our observations indicate a role for GSK-3 in accurate chromosome segregation, but they also raise the possibility that, if used as therapeutic agents, GSK-3 inhibitors may induce unwanted side effects by inducing chromosome instability.

  20. Chromosome aberration assays in Allium

    Energy Technology Data Exchange (ETDEWEB)

    Grant, W.F.

    1982-01-01

    The common onion (Allium cepa) is an excellent plant for the assay of chromosome aberrations after chemical treatment. Other species of Allium (A. cepa var. proliferum, A. carinatum, A. fistulosum and A. sativum) have also been used but to a much lesser extent. Protocols have been given for using root tips from either bulbs or seeds of Allium cepa to study the cytological end-points, such as chromosome breaks and exchanges, which follow the testing of chemicals in somatic cells. It is considered that both mitotic and meiotic end-points should be used to a greater extent in assaying the cytogenetic effects of a chemical. From a literature survey, 148 chemicals are tabulated that have been assayed in 164 Allium tests for their clastogenic effect. Of the 164 assays which have been carried out, 75 are reported as giving a positive reaction, 49 positive and with a dose response, 1 positive and temperature-related, 9 borderline positive, and 30 negative; 76% of the chemicals gave a definite positive response. It is proposed that the Allium test be included among those tests routinely used for assessing chromosomal damage induced by chemicals.

  1. A New Orthodontic Appliance with a Mini Screw for Upper Molar Distalization.

    Science.gov (United States)

    Ozkalayci, Nurhat; Yetmez, Mehmet

    2016-01-01

    The aim of this study is to present a new upper molar distalization appliance called Cise distalizer designed as intraoral device supported with orthodontic mini screw for upper permanent molar distalization. The new appliance consists of eight main components. In order to understand the optimum force level, the appliance under static loading is tested by using strain gage measurement techniques. Results show that one of the open coils produces approximately 300 gr distalization force. Cise distalizer can provide totally 600 gr distalization force. This range of force level is enough for distalization of upper first and second molar teeth.

  2. A New Orthodontic Appliance with a Mini Screw for Upper Molar Distalization

    Directory of Open Access Journals (Sweden)

    Nurhat Ozkalayci

    2016-01-01

    Full Text Available The aim of this study is to present a new upper molar distalization appliance called Cise distalizer designed as intraoral device supported with orthodontic mini screw for upper permanent molar distalization. The new appliance consists of eight main components. In order to understand the optimum force level, the appliance under static loading is tested by using strain gage measurement techniques. Results show that one of the open coils produces approximately 300 gr distalization force. Cise distalizer can provide totally 600 gr distalization force. This range of force level is enough for distalization of upper first and second molar teeth.

  3. Inter-chromosomal heterogeneity in the formation of radiation induced chromosomal aberrations

    International Nuclear Information System (INIS)

    Natarajan, A.T.; Vermeulen, S.; Boei, J.J.W.A.

    1997-01-01

    It is generally assumed that radiation induced chromosomal lesions are distributed randomly and repaired randomly among the genome. Recent studies using fluorescent in situ hybridization (FISH) and chromosome specific DNA libraries indicate that some chromosomes are more sensitive for radiation induced aberration formation than others. Chromosome No. 4 in human and chromosome No. 8 in Chinese hamster have been found to involve more in exchange aberrations than others, when calculated on the basis of their DNA content. Painting with arm specific chromosome libraries indicate that the frequencies of radiation induced intra-chromosome exchanges (i.e., between the arms of a chromosome, such as centric rings and inversions) are far in excess than one would expect on the basis of the frequencies of observed inter-chromosomal exchanges. The possible factors leading to the observed heterogeneity will be discussed

  4. Limited distal organelles and synaptic function in extensive monoaminergic innervation.

    Science.gov (United States)

    Tao, Juan; Bulgari, Dinara; Deitcher, David L; Levitan, Edwin S

    2017-08-01

    Organelles such as neuropeptide-containing dense-core vesicles (DCVs) and mitochondria travel down axons to supply synaptic boutons. DCV distribution among en passant boutons in small axonal arbors is mediated by circulation with bidirectional capture. However, it is not known how organelles are distributed in extensive arbors associated with mammalian dopamine neuron vulnerability, and with volume transmission and neuromodulation by monoamines and neuropeptides. Therefore, we studied presynaptic organelle distribution in Drosophila octopamine neurons that innervate ∼20 muscles with ∼1500 boutons. Unlike in smaller arbors, distal boutons in these arbors contain fewer DCVs and mitochondria, although active zones are present. Absence of vesicle circulation is evident by proximal nascent DCV delivery, limited impact of retrograde transport and older distal DCVs. Traffic studies show that DCV axonal transport and synaptic capture are not scaled for extensive innervation, thus limiting distal delivery. Activity-induced synaptic endocytosis and synaptic neuropeptide release are also reduced distally. We propose that limits in organelle transport and synaptic capture compromise distal synapse maintenance and function in extensive axonal arbors, thereby affecting development, plasticity and vulnerability to neurodegenerative disease. © 2017. Published by The Company of Biologists Ltd.

  5. Fractures of the distal radius in children: A retrospective evaluation

    Directory of Open Access Journals (Sweden)

    Selma Yazıcı

    2012-06-01

    Full Text Available Objectives: This study designed to evaluate the resultsof treatment, closed reduction and percutaneous wires, ofthe distal radius fractures in children.Materials and methods: A retrospective analysis wascarried out in children aged between 5-15 years who presentedwith a displaced fracture of the distal radius to ourhospital. They were initially treated with closed reductionand cast immobilization. If the fractures redisplaced treatedby percutaneous Kirschner (K- wire with scope undera general anaesthesia.Results: Totally 104 patients, who have distal radius fractureswere treated by closed reduction and immobilizationin a plaster cast. 13 patient who have distal radiusfractures were treated by closed reduction under generalanaesthesia and fixed by percutaneous Kirschner (K-wire. Patients with impaired the alignment of the fracturein late period were usually completely displaced fractures.(n=5, 4,3%, in early period, completely displaced fractures(n=5, 4,3% are superior to partial displaced fractures(n=2, 1,7%.Conclusion: In our study, when children with distal radiusfracture first come, they were treated by closed reductionand immobilization in a plaster cast. We thought that inredisplaced fractures patients were suitable for the closedreduction with percutaneous wire treatment.

  6. Chromosomal divergence and evolutionary inferences in Rhodniini based on the chromosomal location of ribosomal genes

    Directory of Open Access Journals (Sweden)

    Sebastian Pita

    2013-05-01

    Full Text Available In this study, we used fluorescence in situ hybridisation to determine the chromosomal location of 45S rDNA clusters in 10 species of the tribe Rhodniini (Hemiptera: Reduviidae: Triatominae. The results showed striking inter and intraspecific variability, with the location of the rDNA clusters restricted to sex chromosomes with two patterns: either on one (X chromosome or both sex chromosomes (X and Y chromosomes. This variation occurs within a genus that has an unchanging diploid chromosome number (2n = 22, including 20 autosomes and 2 sex chromosomes and a similar chromosome size and genomic DNA content, reflecting a genome dynamic not revealed by these chromosome traits. The rDNA variation in closely related species and the intraspecific polymorphism in Rhodnius ecuadoriensis suggested that the chromosomal position of rDNA clusters might be a useful marker to identify recently diverged species or populations. We discuss the ancestral position of ribosomal genes in the tribe Rhodniini and the possible mechanisms involved in the variation of the rDNA clusters, including the loss of rDNA loci on the Y chromosome, transposition and ectopic pairing. The last two processes involve chromosomal exchanges between both sex chromosomes, in contrast to the widely accepted idea that the achiasmatic sex chromosomes of Heteroptera do not interchange sequences.

  7. A novel partial deletion of the Y chromosome azoospermia factor c region is caused by non-homologous recombination between palindromes and may be associated with increased sperm counts

    NARCIS (Netherlands)

    Noordam, M. J.; van Daalen, S. K. M.; Hovingh, S. E.; Korver, C. M.; van der Veen, F.; Repping, S.

    2011-01-01

    BACKGROUND: The male-specific region of the human Y chromosome (MSY) contains multiple testis-specific genes. Most deletions in the MSY lead to inadequate or absent sperm production. Nearly all deletions occur via homologous recombination between amplicons. Previously, we identified two P5/distal-P1

  8. Laparoscopic versus open distal pancreatectomy for pancreatic cancer.

    Science.gov (United States)

    Riviere, Deniece; Gurusamy, Kurinchi Selvan; Kooby, David A; Vollmer, Charles M; Besselink, Marc G H; Davidson, Brian R; van Laarhoven, Cornelis J H M

    2016-04-04

    Surgical resection is currently the only treatment with the potential for long-term survival and cure of pancreatic cancer. Surgical resection is provided as distal pancreatectomy for cancers of the body and tail of the pancreas. It can be performed by laparoscopic or open surgery. In operations on other organs, laparoscopic surgery has been shown to reduce complications and length of hospital stay as compared with open surgery. However, concerns remain about the safety of laparoscopic distal pancreatectomy compared with open distal pancreatectomy in terms of postoperative complications and oncological clearance. To assess the benefits and harms of laparoscopic distal pancreatectomy versus open distal pancreatectomy for people undergoing distal pancreatectomy for pancreatic ductal adenocarcinoma of the body or tail of the pancreas, or both. We used search strategies to search the Cochrane Central Register of Controlled Trials (CENTRAL), MEDLINE, EMBASE, Science Citation Index Expanded and trials registers until June 2015 to identify randomised controlled trials (RCTs) and non-randomised studies. We also searched the reference lists of included trials to identify additional studies. We considered for inclusion in the review RCTs and non-randomised studies comparing laparoscopic versus open distal pancreatectomy in patients with resectable pancreatic cancer, irrespective of language, blinding or publication status.. Two review authors independently identified trials and independently extracted data. We calculated odds ratios (ORs), mean differences (MDs) or hazard ratios (HRs) along with 95% confidence intervals (CIs) using both fixed-effect and random-effects models with RevMan 5 on the basis of intention-to-treat analysis when possible. We found no RCTs on this topic. We included in this review 12 non-randomised studies that compared laparoscopic versus open distal pancreatectomy (1576 participants: 394 underwent laparoscopic distal pancreatectomy and 1182

  9. Chromosome analysis of arsenic affected cattle

    Directory of Open Access Journals (Sweden)

    S. Shekhar

    2014-10-01

    Full Text Available Aim: The aim was to study the chromosome analysis of arsenic affected cattle. Materials and Methods: 27 female cattle (21 arsenic affected and 6 normal were selected for cytogenetical study. The blood samples were collected, incubated, and cultured using appropriate media and specific methods. The samples were analyzed for chromosome number and morphology, relative length of the chromosome, arm ratio, and centromere index of X chromosome and chromosomal abnormalities in arsenic affected cattle to that of normal ones. Results: The diploid number of metaphase chromosomes in arsenic affected cattle as well as in normal cattle were all 2n=60, 58 being autosomes and 2 being sex chromosomes. From the centromeric position, karyotyping studies revealed that all the 29 pair of autosomes was found to be acrocentric or telocentric, and the sex chromosomes (XX were submetacentric in both normal and arsenic affected cattle. The relative length of all the autosome pairs and sex chrosomosome pair was found to be higher in normal than that of arsenic affected cattle. The mean arm ratio of X-chromosome was higher in normal than that of arsenic affected cattle, but it is reverse in case of centromere index value of X-chromosome. There was no significant difference of arm ratio and centromere index of X-chromosomes between arsenic affected and normal cattle. No chromosomal abnormalities were found in arsenic affected cattle. Conclusion: The chromosome analysis of arsenic affected cattle in West Bengal reported for the first time in this present study which may serve as a guideline for future studies in other species. These reference values will also help in comparison of cytological studies of arsenic affected cattle to that of various toxicants.

  10. Giant Cell Tumour of the Distal Ulna: A Rare Presentation

    Directory of Open Access Journals (Sweden)

    Ruben Jaya Kumar

    2011-07-01

    Full Text Available Giant-cell tumour (GCT of bone, a primary yet locally aggressive benign tumour, commonly affects patients between the ages of 20 and 40 years, with the peak incidence occurring in the third decade. Women are affected slightly more than men. The distal end of the ulna is an extremely uncommon site for primary bone tumours in general and giant cell tumours in particular. Wide resection of the distal ulna is the recommended treatment for GCT in such locations. Radio-ulna convergence and dorsal displacement of the ulna stump are known complications following ulna resection proximal to the insertion of the pronator quadratus. This leads to reduction in grip power and forearm rotatory motion. Stabilization of the ulna stump with extensor carpi ulnaris (ECU tendon after wide resection of the tumour has been described in the literature. We report a case of GCT of distal end of ulna treated with wide resection and stabilization with ECU tendon.

  11. Segmental reversal of distal small intestine in short bowel syndrome

    DEFF Research Database (Denmark)

    Grave, Pernille Kock; Thomsen, Sabrina Valentin; Clark, Pia Susanne

    2018-01-01

    were the influence on cell proliferation and mucosal architecture shown by histological analysis. Methods: Sixteen piglets underwent a 60% resection of the distal small intestine and were randomized into two groups. Group 1 short bowel syndrome alone (SBS) (n = 8) and group 2 with reversal of a distal...... small intestinal segment (SBS-RS) (n = 8). Body weight was measured daily and the pigs were euthanized after 1 month. Crypt depths, villus heights and muscle layers thicknesses were measured. For the evaluation of microvilli of the brush border of the epithelium and cell proliferation...... was found in the SBS group and increase in the thickness of the circular and longitudinal muscle layers in the SBS-RS group. In the distal ileal segment the longitudinal muscle layer thicknesses were increased in the SBS group. Otherwise, no significant changes were found. Conclusion: Reversal of a 20-cm...

  12. Fractures of the distal tibia treated with polyaxial locking plating.

    Science.gov (United States)

    Gao, Hong; Zhang, Chang-Qing; Luo, Cong-Feng; Zhou, Zu-Bin; Zeng, Bing-Fang

    2009-03-01

    We evaluated the healing rate, complications, and functional outcomes in 32 adult patients with very short metaphyseal fragments in fractures of the distal tibia treated with a polyaxial locking system. The average distance from the distal extent of the fracture to the tibial plafond was 11 mm. All fractures healed and the average time to union was 14 weeks. Six patients (19%) reported occasional local disturbance over the medial malleolus. There were two cases of postoperative superficial infections and evidence of delayed wound healing. Using the American Orthopaedic Foot and Ankle Society ankle score, the average functional score was 87.3 points (of 100 total possible points). Our results show the polyaxial locking plates, which offer more fixation versatility, may be a reasonable treatment option for distal tibia fractures with very short metaphyseal segments.

  13. Minimally Invasive Distal Pancreatectomy: Review of the English Literature.

    Science.gov (United States)

    Wang, Kai; Fan, Ying

    2017-02-01

    Recently, the superiority of the minimally invasive approach, which results in a better cosmetic result, faster recovery, and shorter length of hospital stay, is a technique that has been progressively recognized as it has developed. And the minimally invasive approach has been applied to distal pancreatectomy (DP), which is a standard method for the treatment of benign, borderline, and part of malignant lesions of the pancreatic body and tail. This article aims to analyze the types, postoperative recovery, and outcomes of laparoscopic distal pancreatectomy (LDP). A systematic search of the scientific literature was performed using PubMed, EMBASE, online journals, and the Internet for all publications on LDP. Articles were selected if the abstract contained patients who underwent LDP for pancreatic diseases. All selected articles were reviewed and analyzed. If there were no contraindications for LDP, this operation is suitable for benign, borderline, or malignant tumors of the pancreatic body and tail, which should try to be performed with preservation of the spleen. LDP is safe and feasible under some conditions to experienced surgeon. Single-incision laparoscopic distal pancreatectomy (S-LDP) and robotic laparoscopic distal pancreatectomy (R-LDP) perioperative outcomes are similar with conventional multi-incision laparoscopic distal pancreatectomy (C-LDP). And the advantages of S-LDP and R-LDP require further exploration. With the application of enhanced recovery program (ERP), length of hospital stay and costs are reduced. LDP is safe and feasible under some conditions. Compared with open distal pancreatectomy, LDP has a lot of advantages; a trend was observed for LDP to replace traditional open surgery. LDP combined with ERP is expected to become standard in the treatment of pancreatic body and tail lesions.

  14. Laparoscopic distal pancreatectomy for adenocarcinoma: safe and reasonable?

    Science.gov (United States)

    Postlewait, Lauren M.

    2015-01-01

    As a result of technological advances during the past two decades, surgeons now use minimally invasive surgery (MIS) approaches to pancreatic resection more frequently, yet the role of these approaches for pancreatic ductal adenocarcinoma resections remains uncertain, given the aggressive nature of this malignancy. Although there are no controlled trials comparing MIS technique to open surgical technique, laparoscopic distal pancreatectomy for pancreatic adenocarcinoma is performed with increasing frequency. Data from retrospective studies suggest that perioperative complication profiles between open and laparoscopic distal pancreatectomy are similar, with perhaps lower blood loss and fewer wound infections in the MIS group. Concerning oncologic outcomes, there appear to be no differences in the rate of achieving negative margins or in the number of lymph nodes (LNs) resected when compared to open surgery. There are limited recurrence and survival data on laparoscopic compared to open distal pancreatectomy for pancreatic adenocarcinoma, but in the few studies that assess long term outcomes, recurrence rates and survival outcomes appear similar. Recent studies show that though laparoscopic distal pancreatectomy entails a greater operative cost, the associated shorter length of hospital stay leads to decreased overall cost compared to open procedures. Multiple new technologies are emerging to improve resection of pancreatic cancer. Robotic pancreatectomy is feasible, but there are limited data on robotic resection of pancreatic adenocarcinoma, and outcomes appear similar to laparoscopic approaches. Additionally fluorescence-guided surgery represents a new technology on the horizon that could improve oncologic outcomes after resection of pancreatic adenocarcinoma, though published data thus far are limited to animal models. Overall, MIS distal pancreatectomy appears to be a safe and reasonable approach to treating selected patients with pancreatic ductal

  15. Chromosomal abnormalities in human glioblastomas: gain in chromosome 7p correlating with loss in chromosome 10q.

    Science.gov (United States)

    Inda, María del Mar; Fan, Xing; Muñoz, Jorge; Perot, Christine; Fauvet, Didier; Danglot, Giselle; Palacio, Ana; Madero, Pilar; Zazpe, Idoya; Portillo, Eduardo; Tuñón, Teresa; Martínez-Peñuela, José María; Alfaro, Jorge; Eiras, José; Bernheim, Alain; Castresana, Javier S

    2003-01-01

    Various genomic alterations have been detected in glioblastoma. Chromosome 7p, with the epidermal growth factor receptor locus, together with chromosome 10q, with the phosphatase and tensin homologue deleted in chromosome 10 and deleted in malignant brain tumors-1 loci, and chromosome 9p, with the cyclin-dependent kinase inhibitor 2A locus, are among the most frequently damaged chromosomal regions in glioblastoma. In this study, we evaluated the genetic status of 32 glioblastomas by comparative genomic hybridization; the sensitivity of comparative genomic hybridization versus differential polymerase chain reaction to detect deletions at the phosphatase and tensin homologue deleted in chromosome 10, deleted in malignant brain tumors-1, and cyclin-dependent kinase inhibitor 2A loci and amplifications at the cyclin-dependent kinase 4 locus; the frequency of genetic lesions (gain or loss) at 16 different selected loci (including oncogenes, tumor-suppressor genes, and proliferation markers) mapping on 13 different chromosomes; and the possible existence of a statistical association between any pair of molecular markers studied, to subdivide the glioblastoma entity molecularly. Comparative genomic hybridization showed that the most frequent region of gain was chromosome 7p, whereas the most frequent losses occurred on chromosomes 10q and 13q. The only statistically significant association was found for 7p gain and 10q loss. Copyright 2002 Wiley-Liss, Inc.

  16. Persistence of chromosomal abnormalities additional to the Philadelphia chromosome after Philadelphia chromosome disappearance during imatinib therapy for chronic myeloid leukemia.

    Science.gov (United States)

    Zaccaria, Alfonso; Valenti, Anna Maria; Donti, Emilio; Gozzetti, Alessandro; Ronconi, Sonia; Spedicato, Francesco

    2007-04-01

    Five Philadelphia chromosome positive (Ph+) chronic myeloid leukemia (CML) patients with additional chromosome abnormalities at diagnosis have been followed during Imatinib therapy. In all, the Ph chromosome disappeared, while the 5 cases, additional abnormalities [dup(1); del(5), +8 (2 patients) and +14] persisted in the subsequent studies, performed over a period of 11 to 49 months, either alone or together with a karyotypically normal cell population. This finding is consistent with a secondary origin of the Ph chromosome in these patients. It is still to early to evaluate the possible prognostic value of these additional abnormalities.

  17. Neglected Distal Humeral Epiphyseal Injury - Two Case Reports

    Directory of Open Access Journals (Sweden)

    Dr. Pankaj Kumar

    2008-07-01

    Full Text Available Distal humeral epiphyseal separation is an uncommon injury in children, which can be missed or misdiagnosed at initial presentation. Awareness of this injury and appropriate radiological assessment helps in proper management. Neglected cases because of inappropriate diagnosis can result in cubitus varus deformity. Full range of movements of elbow can be achieved if properly diagnosed and managed. We present two cases of neglected distal humeral epiphyseal injury in children that resulted in cubitus varus deformity in one case. Full range of movements was achieved in both cases after proper management.

  18. Distal vertebral artery reconstruction when managing vertebrobasilar insufficiency

    Directory of Open Access Journals (Sweden)

    D. M. Galaktionov

    2017-11-01

    Full Text Available This article presents a literature review devoted to the reconstruction of the distal vertebral artery and a clinical case of successful surgical treatment of a patient suffering from vertebrobasilar insufficiency caused by occlusion of the vertebral artery in a proximal segment. The external carotid artery-distal vertebral artery bypass was performed by using the radial artery.Received 27 February 2017. Revised 25 July 2017. Accepted 3 August 2017.Funding: The study did not have sponsorship.Conflict of interest: The authors declare no conflict of interest. 

  19. Robotic spleen-preserving distal pancreatectomy. A case report.

    Science.gov (United States)

    Vasilescu, C; Sgarbura, O; Tudor, S; Herlea, V; Popescu, I

    2009-01-01

    Distal pancreatectomy (DP) is the removal of the pancreatic tissue at the left side of the superior mesenteric vein and it is traditionally approached by an open or laparoscopic exposure. Preservation of the spleen is optional but appears to have a better immunological outcome. We present the case of a 53-year old patient with a 2.4/2.2 tumor located in the tail of the pancreas, with high tumour marker values for whom we decided to perform a robotic spleen-preserving distal pancreatectomy (RSPDP). The postoperative outcome was satisfactory. In conclusion, we recommend this type of approach for small pancreatic tail lesions.

  20. Locking plates in distal humerus fractures: study of 43 patients

    Directory of Open Access Journals (Sweden)

    Gupta Rakesh Kumar

    2013-08-01

    Full Text Available 【Abstract】Objective: The treatment of multi-fragmentary, intraarticular fractures of the distal humerus is difficult, even in young patients with bone of good quality. Small distal fragment, diminished bone mineral quality and increased trauma-associated joint destruction make stable joint reconstruction more problematic. The anatomically preshaped locking plates allow angular stable fixation for these complex fractures. We evaluated functional results of patients treated with open reduction and internal fixation with distal humerus locking plates for complex distal hu-merus fractures. Methods: Forty-three consecutive patients with ar-ticular fractures of the distal humerus were treated by open reduction and internal fixation with AO distal humerus plate system and locking reconstruction plates. Forty patients were available for the final outcome analysis. According to AO/ASIF classification, there were 2 cases of type A2, 4 cases of type A3, 1 case of type B1, 1 case of type B2, 14 cases of type C1, 7 cases of type C2 and 11 cases of type C3. Open reduction with triceps splitting technique was used in all patients. The clinical and radiographic follow-up was performed and outcome measures included pain assessment, range of motion, and Mayo elbow performance score. Results: Forty patients were available for the final outcome analysis. There were 29 males and 11 females with an average age of 38.4 years (18-73 years. Clinical and ra-diological consolidation of the fracture was observed in all cases at an average of 11.6 weeks (9-14 weeks. The average follow-up was 12 months (10-18 months. Using the Mayo elbow performance score the results obtained were graded as excellent or good results in 33 patients (82.5%. One pa-tient had superficial infection, and 4 had myositis ossificans. There were no cases of primary malposition or secondary displacement, implant failure or ulnar neuropathy. Conclusion: Anatomically preshaped distal humerus locking

  1. Traumatisk distal humerus-epifysiolyse hos nyfødt

    DEFF Research Database (Denmark)

    Al-Aubaidi, Zaid; Nielsen, Keld Daubjerg

    2010-01-01

    Traumatic distal humerus epiphysiolysis (TDHE) is a rare injury in infants with an incidence of about 1:35,000 births. It is primarily a birth injury, but it is also seen in cases of battered child syndrome. Because of its rare occurrence and the diagnostic difficulties, the lesion may be overloo......Traumatic distal humerus epiphysiolysis (TDHE) is a rare injury in infants with an incidence of about 1:35,000 births. It is primarily a birth injury, but it is also seen in cases of battered child syndrome. Because of its rare occurrence and the diagnostic difficulties, the lesion may...

  2. Primary bone lymphoma of the distal tibia mimicking brodie's abscess

    International Nuclear Information System (INIS)

    Park, Jina; Lee, Seung Hun; Joo, Kyung Bin; Park, Chan Kum

    2014-01-01

    The 'penumbra sign' on an unenhanced T1-weighted image is a well-known characteristic of Brodie's abscess, and this sign is extremely helpful for discriminating subacute osteomyelitis from other bone lesions. We present a case of primary bone lymphoma of the distal tibia mimicking subacute osteomyelitis with Brodie's abscess in a 50-year-old woman. Initial radiographs and MRI showed a lesion in the distal tibia consistent with Brodie's abscess with the penumbra sign. Histopathological examination of the surgical biopsy specimen confirmed the presence of a diffuse large B-cell lymphoma involving the bone.

  3. Nontraumatic osteonecrosis of the distal pole of the scaphoid

    Directory of Open Access Journals (Sweden)

    Bhavuk Garg

    2011-01-01

    Full Text Available Post traumatic osteonecrosis of distal pole of scaphoid is very rare. We present a case of 34 years old male, drill operator by occupation with nontraumatic osteonecrosis of distal pole of the scaphoid. The patient was managed conservatively and was kept under regular follow-up every three months. The patient was also asked to change his profession. Two years later, the patient had no pain and had mild restriction of wrist movements (less than 15 degrees in either direction. The radiographs revealed normal density of the scaphoid suggesting revascularization.

  4. Osteoblastoma-like osteosarcoma of the distal tibia

    Energy Technology Data Exchange (ETDEWEB)

    Abramovici, Luigia; Steiner, German C. [Department of Pathology and Laboratory Medicine, Hospital for Joint Diseases, New York, NY (United States); Kenan, Samuel [Department of Orthopaedic Oncology Surgery, Hospital for Joint Diseases, New York, NY (United States); Hytiroglou, Prodromos [Aristotle University, Thessaloniki (Greece); Rafii, Mahvash [Department of Radiology, Hospital for Joint Diseases, New York, NY (United States)

    2002-03-01

    We report a case of a 14-year-old boy with an intracompartmental lytic lesion with poorly defined margins in the right distal tibia that was originally treated with curettage and bone grafting. Histologic examination showed an osteoblastic tumor with unusual features, which was found on consultation to be an osteoblastoma-like osteosarcoma, a rare, low-grade variant of osteosarcoma. Subsequently, the patient underwent en bloc resection of the distal tibia, which was replaced with vascularized bone graft and followed by chemotherapy. Two years later, he is alive with lung metastases. (orig.)

  5. Osteoblastoma-like osteosarcoma of the distal tibia

    International Nuclear Information System (INIS)

    Abramovici, Luigia; Steiner, German C.; Kenan, Samuel; Hytiroglou, Prodromos; Rafii, Mahvash

    2002-01-01

    We report a case of a 14-year-old boy with an intracompartmental lytic lesion with poorly defined margins in the right distal tibia that was originally treated with curettage and bone grafting. Histologic examination showed an osteoblastic tumor with unusual features, which was found on consultation to be an osteoblastoma-like osteosarcoma, a rare, low-grade variant of osteosarcoma. Subsequently, the patient underwent en bloc resection of the distal tibia, which was replaced with vascularized bone graft and followed by chemotherapy. Two years later, he is alive with lung metastases. (orig.)

  6. Distal renal tubular acidosis and amelogenesis imperfecta: A rare association

    Directory of Open Access Journals (Sweden)

    P Ravi

    2013-01-01

    Full Text Available Renal tubular acidosis (RTA is characterized by a normal anion gap with hyperchloremic metabolic acidosis. Primary distal RTA (type I is the most common RTA in children. Childhood presentation of distal RTA includes vomiting, failure to thrive, metabolic acidosis, and hypokalemia. Amelogenesis imperfecta (AI represents a condition where the dental enamel and oral tissues are affected in an equal manner resulting in the hypoplastic or hypopigmented teeth. We report a 10-year-old girl, previously asymptomatic presented with the hypokalemic paralysis and on work-up found out to have type I RTA. The discoloration of teeth and enamel was diagnosed as AI.

  7. Modified distal shoe appliance--fabrication and clinical performance.

    Science.gov (United States)

    Gujjar, Kumar Raghav; Indushekar, K R; Amith, H V; Sharma, Shefali Li

    2012-01-01

    When the primary second molar is prematurely lost, mesial movement and migration of the permanent first molar often occurs. This is one of the most difficult problems of the developing dentition confronted by pediatric dentists. Use of a space maintainer that will guide the permanent first molar into its normal position is indicated. In cases with bilateral premature loss of primary molars, the conventional design of distal shoe poses a variety of problems and, therefore, necessitates a customized design for the eruption guidance of permanent first molars. The purpose of this case report is to discuss an innovative design of a distal shoe appliance, which was used with good clinical results.

  8. Screening renal stone formers for distal renal tubular acidosis

    DEFF Research Database (Denmark)

    Osther, P J; Hansen, A B; Røhl, H F

    1989-01-01

    A group of 110 consecutive renal stone formers were screened for distal renal tubular acidosis (RTA) using morning fasting urinary pH (mfUpH) levels followed by a short ammonium chloride loading test in patients with levels above 6.0. In 14 patients (12.7%) a renal acidification defect was noted...... RTA in renal stone formers. Regardless of whether the acidification defect is primary or secondary to stone formation, however, all renal stone formers with distal RTA can expect to benefit from prophylactic alkaline therapy and it is recommended that the screening procedure, which is easy to use...

  9. Cloning of the gene for ocular albinism type 1 from the distal short arm of the X chromosome

    NARCIS (Netherlands)

    Bassi, M. T.; Schiaffino, M. V.; Renieri, A.; de Nigris, F.; Galli, L.; Bruttini, M.; Gebbia, M.; Bergen, A. A.; Lewis, R. A.; Ballabio, A.

    1995-01-01

    Ocular albinism type 1 (OA1) is an X-linked disorder characterized by severe impairment of visual acuity, retinal hypopigmentation and the presence of macromelanosomes. We isolated a novel transcript from the OA1 critical region in Xp22.3-22.2 which is expressed at high levels in RNA samples from

  10. Chromosomes

    Science.gov (United States)

    ... Care Genomic Medicine Working Group New Horizons and Research Patient Management Policy and Ethics Issues Quick Links for Patient Care Education All About the Human Genome Project Fact Sheets Genetic Education Resources for ...

  11. Chromosome engineering: power tools for plant genetics.

    Science.gov (United States)

    Chan, Simon W L

    2010-12-01

    The term "chromosome engineering" describes technologies in which chromosomes are manipulated to change their mode of genetic inheritance. This review examines recent innovations in chromosome engineering that promise to greatly increase the efficiency of plant breeding. Haploid Arabidopsis thaliana have been produced by altering the kinetochore protein CENH3, yielding instant homozygous lines. Haploid production will facilitate reverse breeding, a method that downregulates recombination to ensure progeny contain intact parental chromosomes. Another chromosome engineering success is the conversion of meiosis into mitosis, which produces diploid gametes that are clones of the parent plant. This is a key step in apomixis (asexual reproduction through seeds) and could help to preserve hybrid vigor in the future. New homologous recombination methods in plants will potentiate many chromosome engineering applications. Copyright © 2010 Elsevier Ltd. All rights reserved.

  12. Distally based superficial sural artery flap for soft tissue coverage in the distal 2/3 of leg and foot

    Directory of Open Access Journals (Sweden)

    Kamath B

    2005-01-01

    Full Text Available Background: Skin coverage for defects in the lower 2/3 of leg, ankle region and posterior heel has always been a difficult challenge for reconstructive surgeon. Methods: We describe our experience with the distally based superficial sural artery flap coverage in 48 patients with moderate sized defects in these difficult areas. Results: One out of 48 flaps (in 48 patients was lost totally and 3 suffered marginal necrosis which did not require any secondary procedure. These complications could have been avoided by proper selection of cases and refining technical skills. Conclusion: This simple procedure could be an important and versatile tool for any reconstructive surgeon in providing skin coverage in the distal leg and proximal foot. Preservation of major arteries of the lower limb, minimal donor defect, relatively uninjured donor area in compound fracture or poly trauma involving distal leg are some of the advantages of the flap.

  13. Advances in plant chromosome genomics

    Czech Academy of Sciences Publication Activity Database

    Doležel, Jaroslav; Vrána, Jan; Cápal, Petr; Kubaláková, Marie; Burešová, Veronika; Šimková, Hana

    2014-01-01

    Roč. 32, č. 1 (2014), s. 122-136 ISSN 0734-9750 R&D Projects: GA ČR GAP501/10/1740; GA ČR GAP501/10/1778; GA ČR GBP501/12/G090; GA MŠk(CZ) LO1204 Grant - others:GA MŠk(CZ) ED0007/01/01 Program:ED Institutional support: RVO:61389030 Keywords : BAC library * Chromosome sorting * Cytogenetics Subject RIV: EB - Genetics ; Molecular Biology Impact factor: 9.015, year: 2014

  14. Giemsa C-banding of Barley Chromosomes. IV. Chromosomal Constitution of Autotetraploid Barley

    DEFF Research Database (Denmark)

    Linde-Laursen, Ib

    1984-01-01

    The progeny of an autotetraploid barley plant (C1) consisted of 45 tetraploids and 33 aneuploids. Giemsa C-banding was used to identify each of the chromosomes in 20 euploid and 31 aneuploid C2--seedlings, and in 11 C3--offspring of aneuploid C2--plants. The euploid C2--seedlings all had four...... homologues of each of the chromosomes. The aneuploid C2--seedlings were fairly equally distributed on hypo-and hyperploids, and on the seven chromosome groups. This suggests that a particular chromosome is lost or gained at random in gametes and embryos. The 11 C3--seedlings comprised seven true euploids......, one seedling with 2n=28 having an extra chromosome 6 and missing one chromosome 3, and three seedlings with 2n=29. The chromosomal composition of aneuploid C3--seedlings did not reflect that of their aneuploid C2--parents with respect to missing or extra chromosomes. Two hypohexaploid C2--seedlings...

  15. Exceptional Complex Chromosomal Rearrangements in Three Generations

    Directory of Open Access Journals (Sweden)

    Hannie Kartapradja

    2015-01-01

    Full Text Available We report an exceptional complex chromosomal rearrangement (CCR found in three individuals in a family that involves 4 chromosomes with 5 breakpoints. The CCR was ascertained in a phenotypically abnormal newborn with additional chromosomal material on the short arm of chromosome 4. Maternal karyotyping indicated that the mother carried an apparently balanced CCR involving chromosomes 4, 6, 11, and 18. Maternal transmission of the derivative chromosome 4 resulted in partial trisomy for chromosomes 6q and 18q and a partial monosomy of chromosome 4p in the proband. Further family studies found that the maternal grandmother carried the same apparently balanced CCR as the proband’s mother, which was confirmed using the whole chromosome painting (WCP FISH. High resolution whole genome microarray analysis of DNA from the proband’s mother found no evidence for copy number imbalance in the vicinity of the CCR translocation breakpoints, or elsewhere in the genome, providing evidence that the mother’s and grandmother’s CCRs were balanced at a molecular level. This structural rearrangement can be categorized as an exceptional CCR due to its complexity and is a rare example of an exceptional CCR being transmitted in balanced and/or unbalanced form across three generations.

  16. Evaluation of Chromosomal Abnormalities and Common ...

    African Journals Online (AJOL)

    Evaluation of Chromosomal Abnormalities and Common Trombophilic Mutations in Cases with Recurrent Miscarriage. Ahmet Karatas, Recep Eroz, Mustafa Albayrak, Tulay Ozlu, Bulent Cakmak, Fatih Keskin ...

  17. Reflections and meditations upon complex chromosomal exchanges.

    Science.gov (United States)

    Savage, John R K

    2002-12-01

    The application of FISH chromosome painting techniques, especially the recent mFISH (and its equivalents) where all 23 human chromosome pairs can be distinguished, has demonstrated that many chromosome-type structural exchanges are much more complicated (involving more "break-rejoins" and arms) than has hitherto been assumed. It is clear that we have been greatly under-estimating the damage produced in chromatin by such agents as ionising radiation. This article gives a brief historical summary of observations leading up to this conclusion, and after outlining some of the problems surrounding the formation of complex chromosomes exchanges, speculates about possible solutions currently being proposed.

  18. Chromosomal aberrations in ore miners of Slovakia

    International Nuclear Information System (INIS)

    Beno, M.; Vladar, M.; Nikodemova, D.; Vicanova, M.; Durcik, M.

    1998-01-01

    A pilot study was performed in which the incidence of chromosomal aberrations in lymphocytes of miners in ore mines located in Central Slovakia was monitored and related to lifetime underground radon exposure and to lifetime smoking. The conclusions drawn from the results of the study were as follows: the counts of chromosomal aberrations in lymphocytes of miners were significantly higher than in an age matched control group of white-collar staff; the higher counts of chromosomal aberrations could be ascribed to underground exposure of miners and to smoking; a dependence of chromosomal aberration counts on the exposure to radon could not be assessed. (A.K.)

  19. Chromosome heteromorphisms in the Japanese, 3

    International Nuclear Information System (INIS)

    Sofuni, Toshio; Awa, A.A.

    1982-12-01

    The type and frequency of chromosome variants detected by the C-staining method were ascertained in 1,857 individuals residing in Hiroshima. The most frequent heteromorphic variant was the total inversion of the C-band in chromosome 9 found in 27 individuals (1.45%). The total inversion of the C-band in chromosome 1 was not seen in this sample, but the partial inversion of the C-band in chromosome 1 was found in 18 persons (0.97%). Partial inversion was also detected in the C-band in chromosome 9 in 22 individuals (1.18%). In chromosome 16, neither total nor partial inversion of the C-band was observed in the present study. The frequencies of chromosomes 1, 9, and 16 with a very large C-band were 0.70%, 0.22%, and 0.54%, respectively. Aside from these (1, 9, and 16) a very large C-band was found occasionally in chromosomes 4, 5, 6, 11, 12, 14, and 15, and an unusual insertion of the Y chromosome was observed. A total of 128 C-band variants (6.89%) was found in the 1,857 Hiroshima residents. (author)

  20. Complex chromosome rearrangements related 15q14 microdeletion plays a relevant role in phenotype expression and delineates a novel recurrent syndrome

    Directory of Open Access Journals (Sweden)

    Tomaiuolo Anna

    2011-04-01

    Full Text Available Abstract Complex chromosome rearrangements are constitutional structural rearrangements involving three or more chromosomes or having more than two breakpoints. These are rarely seen in the general population but their frequency should be much higher due to balanced states with no phenotypic presentation. These abnormalities preferentially occur de novo during spermatogenesis and are transmitted in families through oogenesis. Here, we report a de novo complex chromosome rearrangement that interests eight chromosomes in eighteen-year-old boy with an abnormal phenotype consisting in moderate developmental delay, cleft palate, and facial dysmorphisms. Standard G-banding revealed four apparently balanced traslocations involving the chromosomes 1;13, 3;19, 9;15 and 14;18 that appeared to be reciprocal. Array-based comparative genomic hybridization analysis showed no imbalances at all the breakpoints observed except for an interstitial microdeletion on chromosome 15. This deletion is 1.6 Mb in size and is located at chromosome band 15q14, distal to the Prader-Willi/Angelman region. Comparing the features of our patient with published reports of patients with 15q14 deletion this finding corresponds to the smallest genomic region of overlap. The deleted segment at 15q14 was investigated for gene content.

  1. Chromosomal instability can be induced by the formation of breakage-prone chromosome rearrangement junctions

    International Nuclear Information System (INIS)

    Allen, R.N.; Ritter, L.; Moore, S.R.; Grosovsky, A.J.

    2003-01-01

    Full text: Studies in our lab have led to the hypothesis that chromosomal rearrangements can generate novel breakage-prone sites, resulting in chromosomal instability acting predominantly in cis. For example, specific breakage of large blocks of centromeric region heterochromatin on chromosome 16q by treatment with 2,6-diaminopurine (DAP) is associated with repeated rearrangement of chromosome 16q during outgrowth of DAP-treated clones, thereby establishing a link between the initial site of damage and the occurrence of persistent chromosomal instability. Similarly, karyotypic analysis of gamma ray induced instability demonstrated that chromosomal rearrangements in sub-clones were significantly clustered near the site of previously identified chromosomal rearrangement junctions in unstable parental clones. This study investigates the hypothesis that integration of transfected sequences into host chromosomes could create breakage-prone junction regions and persistent genomic instability without exposure to DNA-damage agents. These junctions may mimic the unstable chromosomal rearrangements induced by DAP or radiation, and thus provide a test of the broader hypothesis that instability can to some extent be attributed to the formation of novel chromosomal breakage hot spots. These experiments were performed using human-hamster hybrid AL cells containing a single human chromosome 11, which was used to monitor instability in a chromosomal painting assay. AL cells were transfected with a 2.5 Kb fragment containing multiple copies of the 180 bp human alpha heterochromatic repeat, which resulted in chromosomal instability in 41% of the transfected clones. Parallel exposure to gamma-radiation resulted in a similar level of chromosomal instability, although control transfections with plasmid alone did not lead to karyotypic instability. Chromosomal instability induced by integration of alpha heterochromatic repeats was also frequently associated with delayed reproductive

  2. Genetics Home Reference: CAV3-related distal myopathy

    Science.gov (United States)

    ... gene causes a peculiar form of distal myopathy. Neurology. 2002 Jan 22;58(2):323-5. Erratum in: Neurology 2002 Mar 12;58(5):839. Itoyoma Y [ ... 3 cause four distinct autosomal dominant muscle diseases. Neurology. 2004 Feb 24;62(4):538-43. Review. ...

  3. Urethral advancement procedure in the treatment of primary distal ...

    African Journals Online (AJOL)

    advancement in the repair of primary distal penile hypospadias with regard to feasibility, complication rates .... stones and growth, and any associated congenital anomaly. Meticulous local examination was performed ... with a tourniquet placed on the root of the penis. A submeatal crescent-like incision was performed a few.

  4. Neglected distal humeral epiphyseal injury - Two Case Reports ...

    African Journals Online (AJOL)

    We present two cases of neglected distal humeral epiphyseal injury in children that resulted in cubitus varus deformity in one case. Full range of movements was achieved in both cases after proper management. Keywords: Neglected epiphyseal injury; Cubitus varus; Diagnosis; Treatment Internet Journal of Medical Update ...

  5. Evaluation of Various Filling Techniques in Distal Canals of ...

    African Journals Online (AJOL)

    2017-03-06

    Mar 6, 2017 ... How to cite this article: Dumani A, Yilmaz S, Yoldas O, Kuden C. Evaluation ... Niger J. Clin Pract 2017;20:307-12. This is an open access article distributed ... in oval-shaped distal canals of mandibular molars was inadequate.

  6. Social Support Contributes to Outcomes following Distal Radius Fractures

    Directory of Open Access Journals (Sweden)

    Caitlin J. Symonette

    2013-01-01

    Full Text Available Background. Distal radius fractures are the most common fracture of the upper extremity and cause variable disability. This study examined the role of social support in patient-reported pain and disability at one year following distal radius fracture. Methods. The Medical Outcomes Study Social Support Survey was administered to a prospective cohort of 291 subjects with distal radius fractures at their baseline visit. Pearson correlations and stepwise linear regression models (F-to-remove 0.10 were used to identify whether social support contributes to wrist fracture outcomes. The primary outcome of pain and disability at one year was measured using the Patient Rated Wrist Evaluation. Results. Most injuries were low energy (67.5% and were treated nonoperatively (71.9%. Pearson correlation analysis revealed that higher reported social support correlated with improved Patient Rated Wrist Evaluation scores at 1 year, r(n=181=-0.22, P<0.05. Of the subscales within the Social Support Survey, emotional/informational support explained a significant proportion of the variance in 1-year Patient Rated Wrist Evaluation scores, R2=4.7%, F (1, 181 = 9.98, P<0.05. Conclusion. Lower emotional/informational social support at the time of distal radius fracture contributes a small but significant percentage to patient-reported pain and disability outcomes.

  7. Simultaneous bilateral distal biceps tendon repair: case report

    Directory of Open Access Journals (Sweden)

    Thiago Medeiros Storti

    Full Text Available ABSTRACT Simultaneous bilateral rupture of the distal biceps tendon is a rare clinical entity, seldom reported in the literature and with unclear therapeutic setting. The authors report the case of a 39-year-old white man who suffered a simultaneous bilateral rupture while working out. When weightlifting with elbows at 90° of flexion, he suddenly felt pain on the anterior aspect of the arms, coming for evaluation after two days. He presented bulging contour of the biceps muscle belly and ecchymosis in the antecubital fossa, extending distally to the medial aspect of the forearm, as well as a marked decrease of supination strength and pain in active elbow flexion. MRI confirmed the rupture with retraction of the distal biceps bilaterally. The authors opted for performing the tendon repairs simultaneously through the double incision technique and fixation to the bicipital tuberosity with anchors. The patient progressed quite well, with full return to labor and sports activities, being satisfied with the result after two years of surgery. In the literature search, few reports of simultaneous bilateral rupture of the distal biceps were retrieved, with only one treated in the acute phase of injury. Therefore, the authors consider this procedure to be a good option to solve this complex condition.

  8. Simultaneous bilateral distal biceps tendon repair: case report.

    Science.gov (United States)

    Storti, Thiago Medeiros; Paniago, Alexandre Firmino; Faria, Rafael Salomon Silva

    2017-01-01

    Simultaneous bilateral rupture of the distal biceps tendon is a rare clinical entity, seldom reported in the literature and with unclear therapeutic setting. The authors report the case of a 39-year-old white man who suffered a simultaneous bilateral rupture while working out. When weightlifting with elbows at 90° of flexion, he suddenly felt pain on the anterior aspect of the arms, coming for evaluation after two days. He presented bulging contour of the biceps muscle belly and ecchymosis in the antecubital fossa, extending distally to the medial aspect of the forearm, as well as a marked decrease of supination strength and pain in active elbow flexion. MRI confirmed the rupture with retraction of the distal biceps bilaterally. The authors opted for performing the tendon repairs simultaneously through the double incision technique and fixation to the bicipital tuberosity with anchors. The patient progressed quite well, with full return to labor and sports activities, being satisfied with the result after two years of surgery. In the literature search, few reports of simultaneous bilateral rupture of the distal biceps were retrieved, with only one treated in the acute phase of injury. Therefore, the authors consider this procedure to be a good option to solve this complex condition.

  9. Evaluation of various filling techniques in distal canals of mandibular ...

    African Journals Online (AJOL)

    Evaluation of various filling techniques in distal canals of mandibular molars instrumented with different single-file nickel-titanium systems. ... Comparisons between groups were applied using Student's t-test or one-way ANOVA for normally distributed data. The Mann-Whitney U-test or Kruskal-Wallis test was used when ...

  10. A unique physeal injury of the distal phalanx.

    Science.gov (United States)

    Berber, Onur; Singh, Bijayendra

    2015-01-01

    An unusual Salter-Harris Type 1 fracture variant of the distal phalanx of the index finger is described. The epiphysis was dislocated, sitting dorsally over the middle phalanx head with the articular surface facing dorsal. Reduction could only be achieved through an open procedure. The reduction was stable without supplemental fixation.

  11. Unusual migration of ventriculo peritoneal distal catheter into vagina

    Directory of Open Access Journals (Sweden)

    Sghavamedin Tavallaee

    2015-04-01

    Full Text Available VP shunt is one of the most popular methods for ICP reduction and treatment of hydrocephalus. Various complications of this method are not uncommon such as shunt malfunction, infection and unusual migration of distal catheter. I present a case of migration of the peritoneal catheter out of the vagina.

  12. Laparoscopic versus open distal pancreatectomy for pancreatic cancer

    NARCIS (Netherlands)

    Riviere, D.M.; Gurusamy, K.S.; Kooby, D.A.; Vollmer, C.M.; Besselink, M.G.; Davidson, B.R.; Laarhoven, C.J.H.M. van

    2016-01-01

    BACKGROUND: Surgical resection is currently the only treatment with the potential for long-term survival and cure of pancreatic cancer. Surgical resection is provided as distal pancreatectomy for cancers of the body and tail of the pancreas. It can be performed by laparoscopic or open surgery. In

  13. Laparoscopic versus open distal pancreatectomy for pancreatic cancer

    NARCIS (Netherlands)

    Riviere, Deniece; Gurusamy, Kurinchi Selvan; Kooby, David A.; Vollmer, Charles M.; Besselink, Marc G. H.; Davidson, Brian R.; van Laarhoven, Cornelis J. H. M.

    2016-01-01

    Surgical resection is currently the only treatment with the potential for long-term survival and cure of pancreatic cancer. Surgical resection is provided as distal pancreatectomy for cancers of the body and tail of the pancreas. It can be performed by laparoscopic or open surgery. In operations on

  14. Detection of Lateglacial distal tephra layers in the Netherlands

    NARCIS (Netherlands)

    Davies, S.M.; Hoek, W.Z.; Bohncke, S.J.P.; Lowe, J.; Pyne O'Donnle, S.; Turney, C.S.M.

    2005-01-01

    Three distal tephra layers or cryptotephras have been detected within a sedimentary sequence from the Netherlands that spans the last glacial-interglacial transition. Geochemical analyses identify one as the Vedde Ash, which represents the southernmost discovery of this mid-Younger Dryas tephra so

  15. Outcome of management of distal radius fractures in ...

    African Journals Online (AJOL)

    Background and Purpose: Distal radial fractures are common fractures of postmenopausal age group patients. They are often called fractures of osteoporosis. These fractures are considered to be one of the commonest minor injuries to cause major morbidity in the community. A lot of patient who need surgery, fail to afford ...

  16. Snodgrass repair for distal hypospadias: a review of 75 cases

    African Journals Online (AJOL)

    urologists for distal hypospadias correction. We review our cases to find out whether there was any difference in the rate of urethrocutaneous fistula after the use of single- versus double-layer tubularization, the use of thick versus thin dorsal prepuce subcutaneous flap (DPF), the use of. DPF versus the ventral dartos flap for ...

  17. Spontaneous resolution of splenic infarcts after distal splenorenal ...

    African Journals Online (AJOL)

    Background: In cases of portal hypertension with splenic infarcts, splenectomy with proximal splenorenal shunt has been recommended. We are sharing our experience with distal splenorenal shunt in these cases contrary to the popular belief. Materials and Methods: Splenic infarcts were graded as mild, moderate and ...

  18. Class II correction prior to orthodontics with the carriere distalizer.

    Science.gov (United States)

    McFarlane, Bruce

    2013-01-01

    Class II correction is a challenge in orthodontics with many existing devices being complex, too compliance-driven, or too prone to breakage. The Carriere Distalizer allows for straightforward Class II correction prior to orthodontics (fixed or clear aligners) at a time when no other mechanics interfere, and compliance is at its best.

  19. The distal shoe space maintainer chairside fabrication and clinical performance.

    Science.gov (United States)

    Brill, Warren A

    2002-01-01

    The chairside-fabricated distal shoe appliance, with a stainless steel crown as the retainer, is an efficacious and cost-effective appliance for guiding the unerupted permanent first molar into position after premature loss or extraction of the second primary molar. The fabrication technique is illustrated in this case report and data is presented on the success rate of the appliance.

  20. Chromosomal replicons of higher plants

    International Nuclear Information System (INIS)

    Van't Hof, J.

    1987-01-01

    This brief discussion of replicons of higher plants offers a glimpse into the properties of chromosomal DNA replication. It gives evidence that the S phase of unrelated plant species is comprised of temporally ordered replicon families that increase in number with genome size. This orderly process, which assures a normal inheritance of genetic material to recipient daughter cells, is maintained at the level of replicon clusters by two mutually exclusive mechanisms, one involving the rate at which single replicons replicate their allotment of DNA, and another by means of the tempo-pause. The same two mechanisms are used by cells to alter the pattern of chromosomal DNA replication just prior to and during normal development. Both mechanisms are genetically determined and produce genetic effects when disturbed of disrupted by additional non-conforming DNAs. Further insight into how these two mechanisms operate requires more molecular information about the nature of replicons and the factors that govern when a replicon family replicates. Plant material is a rich and ideal source for this information just awaiting exploitation. 63 refs

  1. Increased chromosome radiosensitivity during pregnancy

    International Nuclear Information System (INIS)

    Ricoul, Michelle; Sabatier, Laure; Dutrillaux, Bernard

    1997-01-01

    It was necessary to consider the risks of exposure of pregnant women, not only in relation to the child, but also in relation to their own hypersensitivity. We have demonstrated that pregnancy increases radiosensitivity of chromosome in the mouse at the end of gestation. This is of importance since it may have implications on radioprotection of pregnant women and give experimental guidelines to the problems of hypersensitivity to drugs and cancer aggravation during pregnancy. Blood obtained from women at various times of pregnancy was exposed to ionizing radiations. By comparison to non-pregnant women, an increase in chromosome breakage was observed in metaphases from lymphocytes, after short-term culture in the presence of the serum of the same donor. Immediately after delivery, this increase in radiosensitivity disappeared. In a prospective study, serial analyses showed a very strong correlation between the amount of pregnancy hormones, progesterone in particular, and the increase in radiosensitivity. Pregnant women may have an increased sensitivity to ionizing radiation during the second half of their pregnancy. This study provides the first evidence in human that radiosensitivity may vary in relation to physiological conditions

  2. Selfish X chromosomes and speciation.

    Science.gov (United States)

    Patten, Manus M

    2017-12-27

    In two papers published at about the same time almost thirty years ago, Frank (Evolution, 45, 1991a, 262) and Hurst and Pomiankowski (Genetics, 128, 1991, 841) independently suggested that divergence of meiotic drive systems-comprising genes that cheat meiosis and genes that suppress this cheating-might provide a general explanation for Haldane's rule and the large X-effect in interspecific hybrids. Although at the time, the idea was met with skepticism and a conspicuous absence of empirical support, the tide has since turned. Some of the clearest mechanistic explanations we have for hybrid male sterility involve meiotic drive systems, and several other cases of hybrid sterility are suggestive of a role for meiotic drive. In this article, I review these ideas and their descendants and catalog the current evidence for the meiotic drive model of speciation. In addition, I suggest that meiotic drive is not the only intragenomic conflict to involve the X chromosome and contribute to hybrid incompatibility. Sexually and parentally antagonistic selection pressures can also pit the X chromosome and autosomes against each other. The resulting intragenomic conflicts should lead to co-evolution within populations and divergence between them, thus increasing the likelihood of incompatibilities in hybrids. I provide a sketch of these ideas and interpret some empirical patterns in the light of these additional X-autosome conflicts. © 2017 John Wiley & Sons Ltd.

  3. Exchange of core chromosomes and horizontal transfer of lineage-specific chromosomes in Fusarium oxysporum

    NARCIS (Netherlands)

    Vlaardingerbroek, I.; Beerens, B.; Rose, L.; Fokkens, L.; Cornelissen, B.J.C.; Rep, M.

    2016-01-01

    Horizontal transfer of supernumerary or lineage-specific (LS) chromosomes has been described in a number of plant pathogenic filamentous fungi. So far it was not known whether transfer is restricted to chromosomes of certain size or properties, or whether 'core' chromosomes can also undergo

  4. Stabilization of chromosomes by DNA intercalators for flow karyotyping and identification by banding of isolated chromosomes

    NARCIS (Netherlands)

    Aten, J. A.; Buys, C. H.; van der Veen, A. Y.; Mesa, J. R.; Yu, L. C.; Gray, J. W.; Osinga, J.; Stap, J.

    1987-01-01

    A number of structurally unrelated DNA intercalators have been studied as stabilizers of mitotic chromosomes during isolation from rodent and human metaphase cells. Seven out of the nine intercalators tested were found to be useful as chromosome stabilizing agents. Chromosome suspensions prepared in

  5. Genome organization and DNA methylation patterns of B chromosomes in the red fox and Chinese raccoon dogs.

    Science.gov (United States)

    Bugno-Poniewierska, Monika; Solek, Przemysław; Wronski, Mariusz; Potocki, Leszek; Jezewska-Witkowska, Grażyna; Wnuk, Maciej

    2014-12-01

    The molecular structure of B chromosomes (Bs) is relatively well studied. Previous research demonstrates that Bs of various species usually contain two types of repetitive DNA sequences, satellite DNA and ribosomal DNA, but Bs also contain genes encoding histone proteins and many others. However, many questions remain regarding the origin and function of these chromosomes. Here, we focused on the comparative cytogenetic characteristics of the red fox and Chinese raccoon dog B chromosomes with particular attention to the distribution of repetitive DNA sequences and their methylation status. We confirmed that the small Bs of the red fox show a typical fluorescent telomeric distal signal, whereas medium-sized Bs of the Chinese raccoon dog were characterized by clusters of telomeric sequences along their length. We also found different DNA methylation patterns for the B chromosomes of both species. Therefore, we concluded that DNA methylation may maintain the transcriptional inactivation of DNA sequences localized to B chromosomes and may prevent genetic unbalancing and several negative phenotypic effects. © 2014 The Authors.

  6. Laparoscopic radical nephroureterectomy: dilemma of the distal ureter.

    Science.gov (United States)

    Steinberg, Jordan R; Matin, Surena F

    2004-03-01

    Laparoscopic nephroureterectomy has recently emerged as a safe, minimally invasive approach to upper tract urothelial cancers. The most controversial and challenging feature of laparoscopic nephroureterectomy is the management of the distal ureter. We review the most common methods of managing the distal ureter, with emphasis on contemporary oncologic outcomes, indications, advantages, and disadvantages. There are currently in excess of five different approaches to the lower ureter. These techniques often combine features of endoscopic, laparoscopic, or open management. They include open excision, a transvesical laparoscopic detachment and ligation technique, laparoscopic stapling of the distal ureter and bladder cuff, the "pluck" technique, and ureteral intussusception. Each technique has distinct advantages and disadvantages, differing not only in technical approach, but oncological principles as well. While the existing published data do not overwhelmingly support one approach over the others, the open approach remains one of the most reliable and oncologically sound procedures. The principles of surgical oncology dictate that a complete, en-bloc resection, with avoidance of tumor seeding, remains the preferred treatment of all urothelial cancers. The classical open technique of securing the distal ureter and bladder cuff achieves this principle and has withstood the test of time. Transvesical laparoscopic detachment and ligation is an oncologically valid approach in patients without bladder tumors, but is limited by technical considerations. The laparoscopic stapling technique maintains a closed system but risks leaving behind ureteral and bladder cuff segments. Both transurethral resection of the ureteral orifice (pluck) and intussusception techniques should be approached with caution, as the potential for tumor seeding exists. Additional long-term comparative outcomes are needed to solve the dilemma of the distal ureter.

  7. Distal pancreatectomy and splenectomy: a robotic or LESS approach.

    Science.gov (United States)

    Ryan, Carrie E; Ross, Sharona B; Sukharamwala, Prashant B; Sadowitz, Benjamin D; Wood, Thomas W; Rosemurgy, Alexander S

    2015-01-01

    The role and application of robotic surgery are debated, particularly given the expansion of laparoscopy, especially laparoendoscopic single-site (LESS) surgery. This cohort study was undertaken to delineate differences in outcomes between LESS and robotic distal pancreatectomy and splenectomy. With Institutional Review Board approval, patients undergoing LESS or robotic distal pancreatectomy and splenectomy from September 1, 2012, through December 31, 2014, were prospectively observed, and data were collected. The results are expressed as the median, with the mean ± SD. Thirty-four patients underwent a minimally invasive distal pancreatectomy and splenectomy: 18 with robotic and 16 with LESS surgery. The patients were similar in sex, age, and body mass index. Conversions to open surgery and estimated blood loss were similar. There were two intraoperative complications in the group that underwent the robotic approach. Time spent in the operating room was significantly longer with the robot (297 vs 254 minutes, P = .03), although operative duration (i.e., incision to closure) was not longer (225 vs 190 minutes; P = .15). Of the operations studied, 79% were undertaken for neoplastic processes. Tumor size was 3.5 cm for both approaches; R0 resections were achieved in all patients. Length of stay was similar in the two study groups (5 vs 4 days). There was one 30-day readmission after robotic surgery. Patient outcomes are similar with LESS or robotic distal pancreatectomy and splenectomy. Robotic operations require more time in the operating room. Both are safe and efficacious minimally invasive operations that follow similar oncologic principles for similar tumors, and both should be in the surgeon's armamentarium for distal pancreatectomy and splenectomy.

  8. Distal Oblique Bundle Reinforcement for Treatment of DRUJ Instability.

    Science.gov (United States)

    Brink, Peter R G; Hannemann, Pascal F W

    2015-08-01

    Background Chronic, dynamic bidirectional instability in the distal radioulnar joint (DRUJ) is diagnosed clinically, based on the patient's complaints and the finding of abnormal laxity in the vicinity of the distal ulna. In cases where malunion is ruled out or treated and there are no signs of osteoarthritis, stabilization of the DRUJ may offer relief. To this end, several different techniques have been investigated over the past 90 years. Materials and Methods In this article we outline the procedure for a new technique using a tendon graft to reinforce the distal edge of the interosseous membrane. Description of Technique A percutaneous technique is used to harvest the palmaris longus tendon and to create a tunnel, just proximal to the sigmoid notch, through the ulna and radius in an oblique direction. By overdrilling the radial cortex, the knotted tendon can be pulled through the radius and ulna and the knot blocked at the second radial cortex, creating a strong connection between the radius and ulna at the site of the distal oblique bundle (DOB). The tendon is fixed in the ulna with a small interference screw in full supination, preventing subluxation of the ulna out of the sigmoid notch during rotation. Results Fourteen patients were treated with this novel technique between 2011 and October 2013. The QuickDASH score at 25 months postoperatively (range 16-38 months) showed an improvement of 32 points. Similarly, an improvement of 33 points (67-34 months) was found on the PRWHE. Only one recurrence of chronic, dynamic bidirectional instability in the DRUJ was observed. Conclusion This simple percutaneous tenodesis technique between radius and ulna at the position of the distal edge of the interosseous membrane shows promise in terms of both restoring stability and relieving complaints related to chronic subluxation in the DRUJ.

  9. Sequence composition and gene content of the short arm of rye (Secale cereale chromosome 1.

    Directory of Open Access Journals (Sweden)

    Silvia Fluch

    Full Text Available BACKGROUND: The purpose of the study is to elucidate the sequence composition of the short arm of rye chromosome 1 (Secale cereale with special focus on its gene content, because this portion of the rye genome is an integrated part of several hundreds of bread wheat varieties worldwide. METHODOLOGY/PRINCIPAL FINDINGS: Multiple Displacement Amplification of 1RS DNA, obtained from flow sorted 1RS chromosomes, using 1RS ditelosomic wheat-rye addition line, and subsequent Roche 454FLX sequencing of this DNA yielded 195,313,589 bp sequence information. This quantity of sequence information resulted in 0.43× sequence coverage of the 1RS chromosome arm, permitting the identification of genes with estimated probability of 95%. A detailed analysis revealed that more than 5% of the 1RS sequence consisted of gene space, identifying at least 3,121 gene loci representing 1,882 different gene functions. Repetitive elements comprised about 72% of the 1RS sequence, Gypsy/Sabrina (13.3% being the most abundant. More than four thousand simple sequence repeat (SSR sites mostly located in gene related sequence reads were identified for possible marker development. The existence of chloroplast insertions in 1RS has been verified by identifying chimeric chloroplast-genomic sequence reads. Synteny analysis of 1RS to the full genomes of Oryza sativa and Brachypodium distachyon revealed that about half of the genes of 1RS correspond to the distal end of the short arm of rice chromosome 5 and the proximal region of the long arm of Brachypodium distachyon chromosome 2. Comparison of the gene content of 1RS to 1HS barley chromosome arm revealed high conservation of genes related to chromosome 5 of rice. CONCLUSIONS: The present study revealed the gene content and potential gene functions on this chromosome arm and demonstrated numerous sequence elements like SSRs and gene-related sequences, which can be utilised for future research as well as in breeding of wheat and rye.

  10. Chromosomal amplifications, 3q gain and deletions of 2q33-q37 are the frequent genetic changes in cervical carcinoma

    International Nuclear Information System (INIS)

    Rao, Pulivarthi H; Murty, Vundavalli VVS; Arias-Pulido, Hugo; Lu, Xin-Yan; Harris, Charles P; Vargas, Hernan; Zhang, Fang F; Narayan, Gopeshwar; Schneider, Achim; Terry, Mary Beth

    2004-01-01

    Carcinoma of uterine cervix is the second most common cancers among women worldwide. Combined radiation and chemotherapy is the choice of treatment for advanced stages of the disease. The prognosis is poor, with a five-year survival rate ranging from about 20–65%, depending on stage of the disease. Therefore, genetic characterization is essential for understanding the biology and clinical heterogeneity in cervical cancer (CC). We used a genome-wide screening method – comparative genomic hybridization (CGH) to identify DNA copy number changes in 77 patients with cervical cancer. We applied categorical and survival analyses to analyze whether chromosomal changes were related to clinico-pathologic characteristics and patients survival. The CGH analysis revealed a loss of 2q33-q37 (57.1%), gain of 3q (54.5%) and chromosomal amplifications (20.77%) as frequent genetic changes. A total of 15 amplified chromosomal sites were detected in 16 cases that include 1p31, 2q32, 7q22, 8q21.2-q24, 9p22, 10q21, 10q24, 11q13, 11q21, 12q15, 14q12, 17p11.2, 17q22, 18p11.2, and 19q13.1. Recurrent amplified sites were noted at 11q13, 11q21, and 19q13.1. The genomic alterations were further evaluated for prognostic significance in CC patients, and we did not find any correlation with a number of clinical or histological parameters. The tumors harboring HPV18 exhibited higher genomic instability compared to tumors with HPV 16. This study demonstrated that 2q33-q37 deletions, 3q gains and chromosomal amplifications as characteristic changes in invasive CC. These genetic alterations will aid in the identification of novel tumor suppressor gene(s) at 2q33-q37 and oncogenes at amplified chromosomal sites. Molecular characterization of these chromosomal changes utilizing the current genomic technologies will provide new insights into the biology and clinical behavior of CC

  11. Impact of chromosome alterations, genetic mutations and clonal hematopoiesis of indeterminate potential (CHIP) on the classification and risk stratification of MDS.

    Science.gov (United States)

    Ganguly, Bani Bandana; Banerjee, Debasis; Agarwal, Mohan B

    2018-03-01

    The advent of technological development has undoubtedly advanced biological and molecular inputs for better understanding the heterogeneous hematopoietic pre-malignant disorder of the stem cells known as myelodysplastic syndromes (MDS). Chromosomal rearrangements, including del(3q/5q/7q/11q/12p/20q), loss of 5/7/Y, trisomy 8/19, i(17q), etc. frequently detected in MDS with variable frequencies and combinations, are the integral components of the 5-tier risk-stratification and WHO-2016 classification. Observations on mutations in genes involved in RNA-splicing, DNA methylation, chromatin modification, transcription factor, signal transduction/kinases, RAS pathway, cohesin complex, DNA repair and other pathways have given insights in independent effects and biological interaction of co-occurrence on disease-phenotype and treatment outcome. However, recent concepts of clonal hematopoiesis of indeterminate potential (CHIP) and idiopathic cytopenia of undetermined significance (ICUS) have urged a re-definition of mutational events in non-clonal cytopenia and non-MDS healthy elderly but with a higher risk of overt leukemia. Considering gene mutations, chromosomal alterations, CHIP, ICUS and their significance in classification and risk-scoring certainly presents a comprehensive picture of disease-phenotype towards better understanding of MDS-pathogenesis, its evolution to AML and its response to therapeutic agents. The present review summarizes chromosomal and gene mutations, co-existence of mutational complexity, and WHO-2016 classification and risk-stratifications of MDS to facilitate a better understanding of its pathogenesis. Copyright © 2017 Elsevier Inc. All rights reserved.

  12. Flow Analysis and Sorting of Plant Chromosomes

    Czech Academy of Sciences Publication Activity Database

    Vrána, Jan; Cápal, Petr; Šimková, Hana; Karafiátová, Miroslava; Čížková, Jana; Doležel, Jaroslav

    2016-01-01

    Roč. 78, Oct 10 (2016), 5.3.1-5.3.43 ISSN 1934-9300 R&D Projects: GA MŠk(CZ) LO1204 Institutional support: RVO:61389030 Keywords : cell cycle synchronization * chromosome genomics * chromosome isolation Subject RIV: EB - Genetics ; Molecular Biology

  13. Chromosome studies in Cashew ( Anacardium occidentale L ...

    African Journals Online (AJOL)

    Despite the increased cultivation of cashew as a commodity crop in sub-Sahara Africa, Asia and South America there are few chromosome studies on it. The present study investigates number, structure and behavior of chromosome in cashew populations growing in Nigeria. Cytological examination of these populations ...

  14. The Barley Chromosome 5 Linkage Map

    DEFF Research Database (Denmark)

    Jensen, J.; Jørgensen, Jørgen Helms

    1975-01-01

    The literature is surveyed for data on recombination between loci on chromosome 5 of barley; 13 loci fall into the category “mapped” loci, more than 20 into the category “associated” loci and nine into the category “loci once suggested to be on chromosome 5”. A procedure was developed...

  15. Statistics for X-chromosome associations.

    Science.gov (United States)

    Özbek, Umut; Lin, Hui-Min; Lin, Yan; Weeks, Daniel E; Chen, Wei; Shaffer, John R; Purcell, Shaun M; Feingold, Eleanor

    2018-06-13

    In a genome-wide association study (GWAS), association between genotype and phenotype at autosomal loci is generally tested by regression models. However, X-chromosome data are often excluded from published analyses of autosomes because of the difference between males and females in number of X chromosomes. Failure to analyze X-chromosome data at all is obviously less than ideal, and can lead to missed discoveries. Even when X-chromosome data are included, they are often analyzed with suboptimal statistics. Several mathematically sensible statistics for X-chromosome association have been proposed. The optimality of these statistics, however, is based on very specific simple genetic models. In addition, while previous simulation studies of these statistics have been informative, they have focused on single-marker tests and have not considered the types of error that occur even under the null hypothesis when the entire X chromosome is scanned. In this study, we comprehensively tested several X-chromosome association statistics using simulation studies that include the entire chromosome. We also considered a wide range of trait models for sex differences and phenotypic effects of X inactivation. We found that models that do not incorporate a sex effect can have large type I error in some cases. We also found that many of the best statistics perform well even when there are modest deviations, such as trait variance differences between the sexes or small sex differences in allele frequencies, from assumptions. © 2018 WILEY PERIODICALS, INC.

  16. Cytometric analysis of irradiation damaged chromosomes

    International Nuclear Information System (INIS)

    Wilder, M.E.; Raju, M.R.

    1982-01-01

    Irradiation of cells in interphase results in dose-dependent damage to DNA which is discernable by flow-cytometric analysis of chromosomes. The quantity (and possibly the quality) of chromosomal changes is different in survival-matched doses of x and α irradiation. It may, therefore, be possible to use these methods for analysis of dose and type of exposure in unknown cases

  17. X-chromosome inactivation and escape

    Indian Academy of Sciences (India)

    2015-11-06

    Nov 6, 2015 ... tion and cancer in mice after a long period of time (Yildirim et al. 2013). ... chromosome of man has a short pairing seg- ment, that is not normally ..... Lyon M. F. 1988 The William Allan memorial award address: X-chromosome ...

  18. Chromosomal evolution and phylogenetic analyses in Tayassu ...

    Indian Academy of Sciences (India)

    Chromosome preparation and karyotype description. The material analysed consists of chromosome preparations of the tayassuid species T. pecari (three individuals) and. P. tajacu (four individuals) and were made from short-term lymphocyte cultures of whole blood samples using standard protocols (Chaves et al. 2002).

  19. AFM image of an entire polygene chromosome

    International Nuclear Information System (INIS)

    Li Minqian; Takeuchi; Ikai, A.

    1994-01-01

    The author present AFM images of an entire polygene chromosome of Drosophila for the first time. Comparing with conventional optical microscope, the AFM image of the polygene chromosomes provides much higher resolution and 3-D measurement capability which will lead to finer scale gene mapping and identification

  20. A sexy spin on nonrandom chromosome segregation.

    Science.gov (United States)

    Charville, Gregory W; Rando, Thomas A

    2013-06-06

    Nonrandom chromosome segregation is an intriguing phenomenon linked to certain asymmetric stem cell divisions. In a recent report in Nature, Yadlapalli and Yamashita (2013) observe nonrandom segregation of X and Y chromosomes in Drosophila germline stem cells and shed light on the complex mechanisms of this fascinating process. Copyright © 2013 Elsevier Inc. All rights reserved.

  1. Temporal genomic evolution of bird sex chromosomes

    DEFF Research Database (Denmark)

    Wang, Zongji; Zhang, Jilin; Yang, Wei

    2014-01-01

    BACKGROUND: Sex chromosomes exhibit many unusual patterns in sequence and gene expression relative to autosomes. Birds have evolved a female heterogametic sex system (male ZZ, female ZW), through stepwise suppression of recombination between chrZ and chrW. To address the broad patterns and complex...... driving forces of Z chromosome evolution, we analyze here 45 newly available bird genomes and four species' transcriptomes, over their course of recombination loss between the sex chromosomes. RESULTS: We show Z chromosomes in general have a significantly higher substitution rate in introns and synonymous...... ('fast-Z' evolution). And species with a lower level of intronic heterozygosities tend to evolve even faster on the Z chromosome. Further analysis of fast-evolving genes' enriched functional categories and sex-biased expression patterns support that, fast-Z evolution in birds is mainly driven by genetic...

  2. Chromosome behaviour in Rhoeo spathacea var. variegata.

    Science.gov (United States)

    Lin, Y J

    1980-01-01

    Rhoeo spathacea var. variegata is unusual in that its twelve chromosomes are arranged in a ring at meiosis. The order of the chromosomes has been established, and each chromosome arm has been designated a letter in accordance with the segmental interchange theory. Chromosomes are often irregularly orientated at metaphase I. Chromosomes at anaphase I are generally distributed equally (6-6, 58.75%) although not necessarily balanced. Due to adjacent distribution, 7-5 distribution at anaphase I was frequently observed (24.17%), and due to lagging, 6-1-5 and 5-2-5 distributions were also observed (10.83% and 3.33% respectively). Three types of abnormal distribution, 8-4, 7-1-4 and 6-2-4 were observed very infrequently (2.92% total), and their possible origins are discussed. Irregularities, such as adjacent distribution and lagging, undoubtedly reduce the fertility of the plant because of the resulting unbalanced gametes.

  3. Chromosome reduction in Eleocharis maculosa (Cyperaceae).

    Science.gov (United States)

    da Silva, C R M; González-Elizondo, M S; Laforga Vanzela, A L

    2008-01-01

    Chromosome numbers in Cyperaceae lower than the typical basic number x = 5 have been described for only three species: Rhynchospora tenuis (n = 2), Fimbristylis umbellaris (n = 3) and Eleocharis subarticulata (n = 3). Eleocharis maculosa is recorded here as the fourth species of Cyperaceae that has a chromosome number lower than 2n = 10, with 2n = 8, 7 and 6. The karyotype differentiation in E. maculosa was studied using conventional staining (mitosis and meiosis), FISH with 45S and 5S rDNA and telomere probes. The results allow us to determine which chromosomes of the chromosome race with 2n = 10 fused to form the remaining reduced numbers, as well as to understand how the symploidy and translocation mechanisms were important in karyotype differentiation and the formation of chromosome races in Eleocharis. Copyright 2008 S. Karger AG, Basel.

  4. Energy Landscapes of Folding Chromosomes

    Science.gov (United States)

    Zhang, Bin

    The genome, the blueprint of life, contains nearly all the information needed to build and maintain an entire organism. A comprehensive understanding of the genome is of paramount interest to human health and will advance progress in many areas, including life sciences, medicine, and biotechnology. The overarching goal of my research is to understand the structure-dynamics-function relationships of the human genome. In this talk, I will be presenting our efforts in moving towards that goal, with a particular emphasis on studying the three-dimensional organization, the structure of the genome with multi-scale approaches. Specifically, I will discuss the reconstruction of genome structures at both interphase and metaphase by making use of data from chromosome conformation capture experiments. Computationally modeling of chromatin fiber at atomistic level from first principles will also be presented as our effort for studying the genome structure from bottom up.

  5. The Y chromosome of the Atelidae family (Platyrrhini): study by chromosome microdissection.

    Science.gov (United States)

    Gifalli-Iughetti, C; Koiffmann, C P

    2009-01-01

    In order to study the intergeneric variability of the Y chromosome, we describe the hybridization of the Y chromosome of Brachytelesarachnoides, obtained by microdissection, to metaphases of Atelesbelzebuthmarginatus, Lagothrixlagothricha, and Alouatta male specimens. Brachytelesarachnoides (Atelinae) has 62 chromosomes and a very small Y chromosome. Our results showed that the Brachytelesarachnoides Y chromosome probe hybridized to Lagothrixlagothricha metaphases yielding one hybridization signal on only the tiny Y chromosome, and when hybridized with Atelesbelzebuthmarginatus metaphases it yielded one hybridization signal on two thirds of the small acrocentric Y chromosome. However, no hybridization signal was observed in Alouatta metaphases (subfamily Alouattinae), a closely related genus in the Atelidae family. Furthermore, our data support a close phylogenetic relationship among Brachyteles, Ateles, and Lagothrix and their placement in the Atelinae subfamily, but exclude Alouatta from this group indicating its placement as basal to this group. Copyright 2009 S. Karger AG, Basel.

  6. Y-chromosome evolution: emerging insights into processes of Y-chromosome degeneration.

    Science.gov (United States)

    Bachtrog, Doris

    2013-02-01

    The human Y chromosome is intriguing not only because it harbours the master-switch gene that determines gender but also because of its unusual evolutionary history. The Y chromosome evolved from an autosome, and its evolution has been characterized by massive gene decay. Recent whole-genome and transcriptome analyses of Y chromosomes in humans and other primates, in Drosophila species and in plants have shed light on the current gene content of the Y chromosome, its origins and its long-term fate. Furthermore, comparative analysis of young and old Y chromosomes has given further insights into the evolutionary and molecular forces triggering Y-chromosome degeneration and into the evolutionary destiny of the Y chromosome.

  7. A PROSPECTIVE STUDY OF DISTAL TIBIAL FRACTURES BY MIPO (LCP

    Directory of Open Access Journals (Sweden)

    Chandra Sekharam Naidu

    2015-05-01

    Full Text Available INTRODUCTION: D istal tibial fractures represent a significant challenge to most of the surgeons even today. They constitute 1 - 10% of all lower extremity fractures . 1 The difficulty in treating the fractures of distal tibial end is exemplif ied by orthopedists, who in the first half of twentieth century, believed these injuries were so severe and fraught with so many complications, that these fractures were deemed not amenable for surgical reconstruction . 2 Conservative treatment by POP cast l ead to prolonged immobilization, leading to ankle and knee stiffness affecting quality of life of the patient . 3 Operative treatment is indicated for most tibial fractures caused by high energy trauma. Operative treatment allows early motion, and avoids sho rtening and other complications associated with prolonged immobilization . 4 The fundamental goal of treatment of distal tibial fractures is restoration of normal or near normal alignment and articular congruity and finally to obtain a well healed fracture; pain free weight bearing ; and functional ROM of ankle joint. For the past decade, plating has been successful in treating complex fractures of the lower extremity especially distal tibia . 5 Conventional ORIF have been associated with complications like infe ction and delayed or non - union due to devitalisation of bony fragments and additional damage to the soft tissues . 6 To improve fracture healing, more “biological” methods have been developed in the last decade to lessen the surgical dissection, preserving b lood supply to bony fragments and containing at least partially the fracture haematoma . 7 Recently, the trend is towards use of a Locking compression plate for treatment of fractures of the distal part of the tibia 8 . Compared with a conventional plate, a Lo cking compression plate imparts a higher degree of stability and provides better protection against primary and secondary losses of reduction and minimization of bone

  8. Localization of Usher syndrome type II to chromosome 1q.

    Science.gov (United States)

    Kimberling, W J; Weston, M D; Möller, C; Davenport, S L; Shugart, Y Y; Priluck, I A; Martini, A; Milani, M; Smith, R J

    1990-06-01

    Usher syndrome is characterized by congenital hearing loss, progressive visual impairment due to retinitis pigmentosa, and variable vestibular problems. The two subtypes of Usher syndrome, types I and II, can be distinguished by the degree of hearing loss and by the presence or absence of vestibular dysfunction. Type I is characterized by a profound hearing loss and totally absent vestibular responses, while type II has a milder hearing loss and normal vestibular function. Fifty-five members of eight type II Usher syndrome families were typed for three DNA markers in the distal region of chromosome 1q: D1S65 (pEKH7.4), REN (pHRnES1.9), and D1S81 (pTHH33). Statistically significant linkage was observed for Usher syndrome type II with a maximum multipoint lod score of 6.37 at the position of the marker THH33, thus localizing the Usher type II (USH2) gene to 1q. Nine families with type I Usher syndrome failed to show linkage to the same three markers. The statistical test for heterogeneity of linkage between Usher syndrome types I and II was highly significant, thus demonstrating that they are due to mutations at different genetic loci.

  9. Invariant TAD Boundaries Constrain Cell-Type-Specific Looping Interactions between Promoters and Distal Elements around the CFTR Locus.

    Science.gov (United States)

    Smith, Emily M; Lajoie, Bryan R; Jain, Gaurav; Dekker, Job

    2016-01-07

    Three-dimensional genome structure plays an important role in gene regulation. Globally, chromosomes are organized into active and inactive compartments while, at the gene level, looping interactions connect promoters to regulatory elements. Topologically associating domains (TADs), typically several hundred kilobases in size, form an intermediate level of organization. Major questions include how TADs are formed and how they are related to looping interactions between genes and regulatory elements. Here we performed a focused 5C analysis of a 2.8 Mb chromosome 7 region surrounding CFTR in a panel of cell types. We find that the same TAD boundaries are present in all cell types, indicating that TADs represent a universal chromosome architecture. Furthermore, we find that these TAD boundaries are present irrespective of the expression and looping of genes located between them. In contrast, looping interactions between promoters and regulatory elements are cell-type specific and occur mostly within TADs. This is exemplified by the CFTR promoter that in different cell types interacts with distinct sets of distal cell-type-specific regulatory elements that are all located within the same TAD. Finally, we find that long-range associations between loci located in different TADs are also detected, but these display much lower interaction frequencies than looping interactions within TADs. Interestingly, interactions between TADs are also highly cell-type-specific and often involve loci clustered around TAD boundaries. These data point to key roles of invariant TAD boundaries in constraining as well as mediating cell-type-specific long-range interactions and gene regulation. Copyright © 2016 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

  10. Multicentre prospective evaluation of implant-assisted mandibular bilateral distal extension removable partial dentures: patient satisfaction

    NARCIS (Netherlands)

    Wismeijer, D.; Tawse-Smith, A.; Payne, A.G.T.

    2013-01-01

    Objective To compare the levels of patient satisfaction with either conventional mandibular bilateral distal extension partial dentures or those assisted by bilateral distal implants. Materials and methods Forty-eight participants who were dissatisfied with their existing conventional mandibular

  11. Minimally invasive versus open distal pancreatectomy (LEOPARD) : Study protocol for a randomized controlled trial

    NARCIS (Netherlands)

    de Rooij, Thijs; van Hilst, Jony; Vogel, Jantien A.; van Santvoort, Hjalmar C.; de Boer, Marieke T.; Boerma, Djamila; van den Boezem, Peter B.; Bonsing, Bert A.; Bosscha, Koop; Coene, Peter-Paul; Daams, Freek; van Dam, Ronald M.; Dijkgraaf, Marcel G.; van Eijck, Casper H.; Festen, Sebastiaan; Gerhards, Michael F.; Koerkamp, Bas Groot; Hagendoorn, Jeroen; van der Harst, Erwin; de Hingh, Ignace H.; Dejong, Cees H.; Kazemier, Geert; Klaase, Joost; de Kleine, Ruben H.; van Laarhoven, Cornelis J.; Lips, Daan J.; Luyer, Misha D.; Molenaar, I. Quintus; Nieuwenhuijs, Vincent B.; Patijn, Gijs A.; Roos, Daphne; Scheepers, Joris J.; van der Schelling, George P.; Steenvoorde, Pascal; Swijnenburg, Rutger-Jan; Wijsman, Jan H.; Abu Hilal, Moh'd; Busch, Olivier R.; Besselink, Marc G.

    2017-01-01

    Background: Observational cohort studies have suggested that minimally invasive distal pancreatectomy (MIDP) is associated with better short-term outcomes compared with open distal pancreatectomy (ODP), such as less intraoperative blood loss, lower morbidity, shorter length of hospital stay, and

  12. Multicenter comparative study of laparoscopic and open distal pancreatectomy using propensity score-matching.

    Science.gov (United States)

    Nakamura, Masafumi; Wakabayashi, Go; Miyasaka, Yoshihiro; Tanaka, Masao; Morikawa, Takanori; Unno, Michiaki; Tajima, Hiroshi; Kumamoto, Yusuke; Satoi, Sohei; Kwon, Masanori; Toyama, Hirochika; Ku, Yonson; Yoshitomi, Hideyuki; Nara, Satoshi; Shimada, Kazuaki; Yokoyama, Takahide; Miyagawa, Shinichi; Toyama, Yoichi; Yanaga, Katsuhiko; Fujii, Tsutomu; Kodera, Yasuhiro; Tomiyama, Yasuyuki; Miyata, Hiroaki; Takahara, Takeshi; Beppu, Toru; Yamaue, Hiroki; Miyazaki, Masaru; Takada, Tadahiro

    2015-10-01

    Laparoscopic distal pancreatectomy has been shown to be associated with favorable postoperative outcomes using meta-analysis. However, there have been no randomized controlled studies yet. This study aimed to compare laparoscopic and open distal pancreatectomy using propensity score-matching. We retrospectively collected perioperative data of 2,266 patients who underwent distal pancreatectomy in 69 institutes from 2006-2013 in Japan. Among them, 2,010 patients were enrolled in this study and divided into two groups, laparoscopic distal pancreatectomy and open distal pancreatectomy. Perioperative outcomes were compared between the groups using unmatched and propensity matched analysis. After propensity score-matching, laparoscopic distal pancreatectomy was associated with favorable perioperative outcomes compared with open distal pancreatectomy, including higher rate of preservation of spleen and splenic vessels (P pancreatectomy was associated with more favorable perioperative outcomes than open distal pancreatectomy. © 2015 Japanese Society of Hepato-Biliary-Pancreatic Surgery.

  13. Chromatid Painting for Chromosomal Inversion Detection, Phase II

    Data.gov (United States)

    National Aeronautics and Space Administration — We propose the continued development of a novel approach to the detection of chromosomal inversions. Transmissible chromosome aberrations (translocations and...

  14. Chromatid Painting for Chromosomal Inversion Detection, Phase I

    Data.gov (United States)

    National Aeronautics and Space Administration — We propose a novel approach to the detection of chromosomal inversions. Transmissible chromosome aberrations (translocations and inversions) have profound genetic...

  15. Automatic Metaphase Finding by Inter-Chromosome Extrema Profile Analysis

    National Research Council Canada - National Science Library

    Vega-Alvarado, Leticia

    2001-01-01

    ...-level inter-chromosome coarseness features in microscopic images of metaphase spreads, and allows to quantity the texture of the cytological objects analysing the intensity profile between chromosome...

  16. Label Free Chromosome Translocation Detection with Silicon nanowires

    DEFF Research Database (Denmark)

    Kwasny, Dorota; Andersen, Karsten Brandt; Frøhling, Kasper Bayer

    HROMOSOME translocation, which is a rearrangement of arms between two chromosomes, is a major group of chromosome abnormalities leading to cancer. As a result, two derivative chromosomes with sequences coming from both chromosomes are formed. The current translocation detection method is a Fluore......HROMOSOME translocation, which is a rearrangement of arms between two chromosomes, is a major group of chromosome abnormalities leading to cancer. As a result, two derivative chromosomes with sequences coming from both chromosomes are formed. The current translocation detection method...

  17. Single absorbable polydioxanone pin fixation for distal chevron bunion osteotomies.

    Science.gov (United States)

    Deorio, J K; Ware, A W

    2001-10-01

    The distal chevron osteotomy is a well-established technique for correction of symptomatic mild to moderate metatarsus primus varus with hallux valgus deformity. Fixation of the osteotomy ranges from none to bone pegs, Kirschner wires, screws, or absorbable pins. We evaluated one surgeon's (J.K.D.) results of distal chevron osteotomy fixation with a single, nonpredrilled, 1.3-mm poly-p-dioxanone pin and analyzed any differences in patients with unilateral or bilateral symptomatic metatarsus primus varus with hallux valgus deformities. All osteotomies healed without evidence of infection, osteolysis, nonunion, or necrosis. Equal correction was achieved in unilateral and bilateral procedures. The technique is quick and easy, and adequate fixation is achieved.

  18. Osteomyelitis Caused by Candida glabrata in the Distal Phalanx

    Directory of Open Access Journals (Sweden)

    Shunichi Toki

    2014-01-01

    Full Text Available Osteomyelitis caused by Candida glabrata is rare and its optimal treatment is unknown. Here we report a case of osteomyelitis caused by C. glabrata in the distal phalanx in a 54-year-old woman. Despite partial resection of the nail and administering a 1-month course of antibiotics for paronychia, the local swelling remained and an osteolytic lesion was found. C. glabrata osteomyelitis of the distal phalanx was later diagnosed after curettage. Thereafter, the patient was treated with antifungal agents for 3 months. The infection eventually resolved, and radiological healing of the osteolytic lesion was achieved. Antifungal susceptibility testing should be performed in the case of osteomyelitis caused by nonalbicans Candida species, due to their resistance to fluconazole.

  19. Retrograde nailing for distal femur fractures in the elderly

    Directory of Open Access Journals (Sweden)

    Giddie Jasdeep

    2015-01-01

    Full Text Available Introduction: We report the results of treating a series of 56 fractures in 54 elderly patients with a distal femur fracture with a retrograde femoral nail. Methods: Fifty-four of the nails were inserted percutaneously with a closed reduction. After surgery all patients were allowed to weight bear as tolerated. Four fractures were supported in a temporary external splint. Results: The mean age of patients was 80.6 years (range 51–103 years, 52/54 (96% were females. There were no cases of nail related complications and no re-operations were required. One patient was lost to follow up. The 30-day mortality was 5/54 (9.3% and the one year mortality was 17/54 (31.5%. Conclusions: Distal femoral nail fixation provides a good method of fixation allowing immediate mobilisation for this group of patients.

  20. Pendulum Therapy of Molar Distalization in Mixed Dentition.

    Science.gov (United States)

    Patil, Raju Umaji; Prakash, Amit; Agarwal, Anshu

    2016-01-01

    Early and timely pedo-orthodontic treatment is aimed at eliminating the disturbances of skeletal or dentoalveolar development, to harmonize the stomatognathic system before the full eruption of all permanent teeth. The advantages of pendulum appliance are its minimal dependence on patient's compliance (child cooperation), ease of fabrication, onetime activation and adjustment of the springs if necessary to correct minor transverse and vertical molar positions. This article reports a successful treatment method of class II malocclusion with pendulum appliance in mixed dentition phase. Distalization of maxillary molar was done, followed by guidance of canine impaction orthodontically and other dental correction using 0.022 MBT appliances. Posttreatment results were stable and remarkable. How to cite this article: Patil RU, Prakash A, Agarwal A. Pendulum Therapy of Molar Distalization in Mixed Dentition. Int J Clin Pediatr Dent 2016;9(1):67-73.

  1. Unravelling intention: distal intentions increase the subjective sense of agency.

    Science.gov (United States)

    Vinding, Mikkel C; Pedersen, Michael N; Overgaard, Morten

    2013-09-01

    Experimental studies investigating the contribution of conscious intention to the generation of a sense of agency for one's own actions tend to rely upon a narrow definition of intention. Often it is operationalized as the conscious sensation of wanting to move right before movement. Existing results and discussion are therefore missing crucial aspects of intentions, namely intention as the conscious sensation of wanting to move in advance of the movement. In the present experiment we used an intentional binding paradigm, in which we distinguished between immediate (proximal) intention, as usually investigated, and longer standing (distal) intention. The results showed that the binding effect was significantly enhanced for distal intentions compared to proximal intentions, indicating that the former leads to stronger sense of agency. Our finding provides empirical support for a crucial distinction between at least two types of intention when addressing the efficacy of conscious intentions. Copyright © 2013 Elsevier Inc. All rights reserved.

  2. Optimal fit of chairside-fabricated distal shoe space maintainer.

    Science.gov (United States)

    Nouri, M R; Kennedy, D B

    2013-10-01

    Premature loss of a primary second molar may lead to space loss in the dental arch. This space loss tends to be more severe in unfavourable malocclusions. The distal shoe space maintainer (DSSM) may be beneficial in controlling the path of eruption of an unerupted permanent first molar from the primary into the early mixed dentition. This article describes the technique for achieving optimal fit of a chairside-fabricated band and DSSM in a single visit by contouring the distal shoe blade, and by extending it to the mesial surface of the permanent first molar. Upon the eruption of the permanent first molar DSSM may be modified to a reverse band-and-loop, or replaced by a lingual holding arch.

  3. Molecular evidence for the induction of large interstitial deletions on mouse chromosome 8 by ionizing radiation

    International Nuclear Information System (INIS)

    Turker, Mitchell S.; Pieretti, Maura; Kumar, Sudha

    1997-01-01

    The P19H22 mouse embryonal carcinoma cell line is characterized by a hemizygous deficiency for the chromosome 8 encoded aprt (adenine phosphoribosyltransferase) gene and heterozygosity for many chromosome 8 loci. We have previously demonstrated that this cell line is suitable for mutational studies because it is permissive of events ranging in size from base-pair substitutions at the aprt locus to apparent loss of chromosome 8. Large mutational events, defined by loss of the remaining aprt allele, were found to predominate in spontaneous mutants and those induced by ionizing radiation. In this study we have used a PCR based assay to screen for loss of heterozygosity at microsatellite loci both proximal and distal to aprt in 137 Cs-induced and spontaneous aprt mutants. This approach allowed us to distinguish apparent interstitial deletional events from apparent recombinational events. Significantly, 32.5% (26 of 80) of the mutational events induced by 137 Cs appeared to be interstitial deletions as compared with 7.7% (6 of 78) in the spontaneous group. This difference was statistically significant (p 137 Cs caused a significant number of deletion mutations. Most 137 Cs-induced interstitial deletions were larger than 6 cM, whereas none of the spontaneous deletions were larger than 6 cM. These results provide further support for the notion that ionizing radiation induces deletion mutations and validate the use of the P19H22 cell line for the study of events induced by ionizing radiation

  4. Satellite DNA Sequences in Canidae and Their Chromosome Distribution in Dog and Red Fox.

    Science.gov (United States)

    Vozdova, Miluse; Kubickova, Svatava; Cernohorska, Halina; Fröhlich, Jan; Rubes, Jiri

    2016-01-01

    Satellite DNA is a characteristic component of mammalian centromeric heterochromatin, and a comparative analysis of its evolutionary dynamics can be used for phylogenetic studies. We analysed satellite and satellite-like DNA sequences available in NCBI for 4 species of the family Canidae (red fox, Vulpes vulpes, VVU; domestic dog, Canis familiaris, CFA; arctic fox, Vulpes lagopus, VLA; raccoon dog, Nyctereutes procyonoides procyonoides, NPR) by comparative sequence analysis, which revealed 86-90% intraspecies and 76-79% interspecies similarity. Comparative fluorescence in situ hybridisation in the red fox and dog showed signals of the red fox satellite probe in canine and vulpine autosomal centromeres, on VVUY, B chromosomes, and in the distal parts of VVU9q and VVU10p which were shown to contain nucleolus organiser regions. The CFA satellite probe stained autosomal centromeres only in the dog. The CFA satellite-like DNA did not show any significant sequence similarity with the satellite DNA of any species analysed and was localised to the centromeres of 9 canine chromosome pairs. No significant heterochromatin block was detected on the B chromosomes of the red fox. Our results show extensive heterogeneity of satellite sequences among Canidae and prove close evolutionary relationships between the red and arctic fox. © 2017 S. Karger AG, Basel.

  5. Use of a human chromosome 11 radiation hybrid panel to map markers at 11q13

    International Nuclear Information System (INIS)

    Withers, D.; Richard, C. III; Meeker, T.C.; Maurer, S.; Evans, G.; Myers, R.M.; Cox, D.R.

    1990-01-01

    A human/hamster hybrid cell line containing human chromosome 11 was X-irradiated and 102-independent derivative lines were recovered. These 'radiation hybrids' contain random fragments of human chromosome 11. This radiation hybrid panel was used to score the retention of markers at band 11q13. Statistical analysis of marker co-retention patterns in the radiation hybrid panel permits a preliminary ordering and mapping of the markers used. The best order for six scored markers is: proximal - CD5 - CD20 - PGA - HST - BCL1 - SEA - distal. Additional markers are currently being scored. The six 11q13 markers above are spread over approximately 10-12 mB of DNA. The mapping data has implications for the identification of the bcl-1 gene. bcl-1 is the site of chromosome breakage in translocations associated with B lymphocytic malignancy. bcl-1 markers map at least 4 Mb away from any of four genes previously hypothesized to be activated by such translocations, thereby making them unlikely candidates for activation

  6. Recombinant 4 syndrome due to an unbalanced pericentric inversion of chromosome 4.

    Science.gov (United States)

    Battaglia, A; Brothman, A R; Carey, J C

    2002-09-15

    An informative patient with a MCA/MR syndrome consisting of developmental delay, prenatal onset growth delay, microcephaly, distinctive face, iris coloboma, and a congenital heart defect was found, on chromosome analysis, to have the following complement: 46,XY,rec(4) dup(4p) inv(4)(p14q35.1) mat. He has a partial 4p trisomy/distal 4q deletion due to an unbalanced pericentric inversion inherited from his mother. Dup (4p) trisomy was originally described by Wilson et al. [1970: Am J Hum Genet 22:679-690] in a similar case with the same chromosome 4 inversion. To date, at least 85 cases of dup (4p) syndrome have been published, mostly due to unbalanced translocations. Recent articles suggest that the phenotype is hard to recognize clinically due to the lack of specificity of findings. In contrast, 4p trisomy due to an unbalanced pericentric inversion of chromosome 4(p14q35), i.e., the recombinant 4 syndrome observed in our patient, appears to be a discrete entity with relatively consistent features. In total there are four other kindreds described in the literature with this inversion, and the phenotype seems recognizable. Thus, we suggest that recombinant 4 syndrome is a discrete entity among 4p trisomy patients. Copyright 2002 Wiley-Liss, Inc.

  7. The effect of distal utility value intervention for students’ learning

    OpenAIRE

    KERA, Masaki; NAKAYA, Motoyuki

    2017-01-01

    The purpose of this study was to determine whether a utility value intervention influenced students’motivation and performance. Specifically, we examined the effect of distal utility value (i.e., the recognition of content usefulness for skill development that can improve daily and future endeavors) instruction in this study.Fifty-one Japanese undergraduate students completed an experimental session in the laboratory, in which they performed a series of logical reasoning problem-solving tasks...

  8. Epidemiology of distal forearm fractures in Oslo, Norway.

    Science.gov (United States)

    Lofthus, C M; Frihagen, F; Meyer, H E; Nordsletten, L; Melhuus, K; Falch, J A

    2008-06-01

    The population of Oslo has the highest incidence of hip fracture reported. The present study shows that the overall incidence of distal forearm fractures in Oslo is higher than in other countries and has not changed significantly when comparing the incidence of 1998/99 with 1979. The population of Oslo has the highest incidence of hip fracture reported. The present study reports the incidence of distal forearm fracture in Oslo and the fracture rates of immigrants. Patients aged > or = 20 years resident in Oslo sustaining a distal forearm fracture in a one-year period in 1998/99 were identified using electronic diagnosis registers, patient protocols, and/or X-ray registers of the clinics in Oslo. Medical records were obtained and the diagnosis verified. The age- and sex-specific incidence rates were calculated and compared with those for 1979. Data on immigrant category and country of origin of the patients were obtained. The age-adjusted fracture rates per 10,000 for the age group > or = 50 years were 109.8 and 25.4 in 1998/99 compared with 108.3 and 23.5 in 1979 for women and men, respectively (n.s.). The relative risk of fracture in Asians was 0.72 (95% CI 0.53-1.00) compared with ethnic Norwegians. The overall incidence of distal forearm fractures in Oslo is higher than in other countries and has not changed significantly when comparing the incidence of 1998/99 with 1979. Furthermore, the present data suggest that Asian immigrants in Oslo have a slightly lower fracture risk than ethnic Norwegians.

  9. Dual-port distal gastrectomy for the early gastric cancer

    OpenAIRE

    Kashiwagi, Hiroyuki; Kumagai, Kenta; Monma, Eiji; Nozue, Mutsumi

    2014-01-01

    Background Although recent trends in laparoscopic procedures have been toward minimizing the number of incisions, four or five ports are normally required to complete laparoscopic gastrectomy because of the complexity of this procedure. Multi-channel ports, such as the SILS port (Covidien, JAPAN), are now available and are crucial for performing single-incision laparoscopic surgery (SILS) or reduced port surgery (RPS). We carried out reduced port distal gastrectomy (RPDG) using a dual-port me...

  10. Factors Associated with Infection Following Open Distal Radius Fractures

    OpenAIRE

    Glueck, Dane A.; Charoglu, Constantine P.; Lawton, Jeffrey N.

    2009-01-01

    Open fractures are often classified according to a system described by Gustilo and Anderson. However, this system was applied to open long bone factures, which may not predict the incidence of infection in open metaphyseal fractures of the upper extremity. Other studies have found that wound contamination and systemic illness were the best predictors of infections in open hand fractures. Our study assessed infection in open distal radius fractures and identifies factors that are associated wi...

  11. Is nonoperative management of partial distal biceps tears really successful?

    Science.gov (United States)

    Bauer, Tyler M; Wong, Justin C; Lazarus, Mark D

    2018-04-01

    The current treatment of partial distal biceps tears is a period of nonoperative management, followed by surgery, if symptoms persist. Little is known about the success rate and outcomes of nonoperative management of this illness. We identified 132 patients with partial distal biceps tears through an International Classification of Diseases, Ninth Revision code query of our institution's database. Patient records were reviewed to abstract demographic information and confirm partial tears of the distal biceps tendon based on clinical examination findings and confirmatory magnetic resonance imaging (MRI). Seventy-four patients completed an outcome survey. In our study, 55.7% of the contacted patients who tried a nonoperative course (34 of 61 patients) ultimately underwent surgery, and 13 patients underwent immediate surgery. High-need patients, as defined by occupation, were more likely to report that they recovered ideally if they underwent surgery, as compared with those who did not undergo surgery (odds ratio, 11.58; P = .0138). For low-need patients, the same analysis was not statistically significant (P = .139). There was no difference in satisfaction scores between patients who tried a nonoperative course before surgery and those who underwent immediate surgery (P = .854). An MRI-diagnosed tear of greater than 50% was a predictor of needing surgery (odds ratio, 3.0; P = .006). This study has identified clinically relevant information for the treatment of partial distal biceps tears, including the following: the failure rate of nonoperative treatment, the establishment of MRI percent tear as a predictor of failing nonoperative management, the benefit of surgery for the high-need occupational group, and the finding that nonoperative management does not negatively affect outcome if subsequent surgery is necessary. Copyright © 2018 Journal of Shoulder and Elbow Surgery Board of Trustees. Published by Elsevier Inc. All rights reserved.

  12. Characterisation of osseous bodies of the distal phalanx of foals

    International Nuclear Information System (INIS)

    Kaneps, A.J.; O'Brien, T.R.; Redden, R.F.; Stover, S.M.; Pool, R.R.

    1993-01-01

    The distal phalanx and metacarpal physis of both forelimbs of 32 Thoroughbred foals 3-32 weeks of age were radiographed to identify those limbs with osseous bodies at a palmar process (PP) of the distal phalanx. Osseous bodies (ossicles) were identified radiographically in 19% of the foals. Sixteen of the 32 foals were selected for microradiographic and histological evaluation: 6 foals with radiographic evidence of ossicles and 10 foals without. Fourteen ossicles of the PP were observed radiographically. Ossicles were either a triangular bone fragment at the palmar aspect of the distal angle of the PP, or an oblong bone fragment separated from P3 by a radiolucent line extending 1-3 cm from the incisure of the PP to the solar margin. One foal had radiographic evidence of bilateral distal metacarpal physitis. Seventeen of 35 PPs examined microradiographically were considered normal, in that the dorsal and solar cortices were thin with trabecular bone orientated parallel to the cortical surfaces, and there was a depression in the dorsal cortical surface (i.e. parietal sulcus). Abnormal microradiographic findings in the other 18 PPs included a fracture line extending from the dorsal cortical surfaces and trabecular bridging of the fracture gap. The fracture line was often continuous with the parietal sulcus. Microradiographic evidence of a fracture was found in 75% of foals evaluated. Normal histological findings in 16 PPs included thin dorsal and solar cortices with trabeculae orientated parallel to the cortical surfaces, parallel-fibred dense connective tissue attachments of the deep digital flexor tendon to the solar cortical surfaces, and a neurovascular bundle associated with the parietal sulcus

  13. External jig in the placement of distal interlocking screws | Ikem ...

    African Journals Online (AJOL)

    Retrograde (52.2%) was the commonest surgical approach used for femur. The main indication for SIGN interlocking surgery was recent fracture 77.8%. Open reduction 97.8% was the commonest method of reduction used. The mean±SD bone union time was 3.58±0.56 months and range 3-5 months. Distal screw insertion ...

  14. A PROSPECTIVE STUDY OF DISTAL TIBIAL FRACTURES BY MIPO (LCP)

    OpenAIRE

    Chandra Sekharam Naidu; Ch.Murali Krishna; Sankara Rao; Dharma Rao; Ashok Kumar

    2015-01-01

    INTRODUCTION: D istal tibial fractures represent a significant challenge to most of the surgeons even today. They constitute 1 - 10% of all lower extremity fractures . 1 The difficulty in treating the fractures of distal tibial end is exemplif ied by orthopedists, who in the first half of twentieth century, believed these injuries were so severe and fraught with so many complications, that these fractures wer...

  15. Distal renal tubular acidosis in recurrent renal stone formers

    DEFF Research Database (Denmark)

    Osther, P J; Hansen, A B; Røhl, H F

    1989-01-01

    Renal acidification ability was examined in 90 recurrent renal stone formers, using fasting morning urinary pH levels followed by a short ammonium chloride loading test in subjects with pH levels above 6.0. Fifteen patients (16.6%) revealed a distal renal tubular acidification defect: one patient......, this has important therapeutic implications. The pathological sequence in renal stone formers with dRTA is discussed....

  16. Impact of a Nationwide Training Program in Minimally Invasive Distal Pancreatectomy (LAELAPS)

    NARCIS (Netherlands)

    de Rooij, Thijs; van Hilst, Jony; Boerma, Djamila; Bonsing, Bert A.; Daams, Freek; van Dam, Ronald M.; Dijkgraaf, Marcel G.; van Eijck, Casper H.; Festen, Sebastiaan; Gerhards, Michael F.; Koerkamp, Bas Groot; van der Harst, Erwin; de Hingh, Ignace H.; Kazemier, Geert; Klaase, Joost; de Kleine, Ruben H.; van Laarhoven, Cornelis J.; Lips, Daan J.; Luyer, Misha D.; Molenaar, I. Quintus; Patijn, Gijs A.; Roos, Daphne; Scheepers, Joris J.; van der Schelling, George P.; Steenvoorde, Pascal; Vriens, Menno R.; Wijsman, Jan H.; Gouma, Dirk J.; Busch, Olivier R.; Hilal, Mohammed Abu; Besselink, Marc G.; de Boer, Marieke T.

    2016-01-01

    Objective:To study the feasibility and impact of a nationwide training program in minimally invasive distal pancreatectomy (MIDP).Summary of Background Data:Superior outcomes of MIDP compared with open distal pancreatectomy have been reported. In the Netherlands (2005 to 2013) only 10% of distal

  17. Cost-effectiveness of laparoscopic versus open distal pancreatectomy for pancreatic cancer

    NARCIS (Netherlands)

    Gurusamy, Kurinchi Selvan; Riviere, Deniece; van Laarhoven, C. J. H.; Besselink, Marc; Abu-Hilal, Mohammed; Davidson, Brian R.; Morris, Steve

    2017-01-01

    A recent Cochrane review compared laparoscopic versus open distal pancreatectomy for people with for cancers of the body and tail of the pancreas and found that laparoscopic distal pancreatectomy may reduce the length of hospital stay. We compared the cost-effectiveness of laparoscopic distal

  18. High-resolution gene maps of horse chromosomes 14 and 21: additional insights into evolution and rearrangements of HSA5 homologs in mammals.

    Science.gov (United States)

    Goh, Glenda; Raudsepp, Terje; Durkin, Keith; Wagner, Michelle L; Schäffer, Alejandro A; Agarwala, Richa; Tozaki, Teruaki; Mickelson, James R; Chowdhary, Bhanu P

    2007-01-01

    High-resolution physically ordered gene maps for equine homologs of human chromosome 5 (HSA5), viz., horse chromosomes 14 and 21 (ECA14 and ECA21), were generated by adding 179 new loci (131 gene-specific and 48 microsatellites) to the existing maps of the two chromosomes. The loci were mapped primarily by genotyping on a 5000-rad horse x hamster radiation hybrid panel, of which 28 were mapped by fluorescence in situ hybridization. The approximately fivefold increase in the number of mapped markers on the two chromosomes improves the average resolution of the map to 1 marker/0.9 Mb. The improved resolution is vital for rapid chromosomal localization of traits of interest on these chromosomes and for facilitating candidate gene searches. The comparative gene mapping data on ECA14 and ECA21 finely align the chromosomes to sequence/gene maps of a range of evolutionarily distantly related species. It also demonstrates that compared to ECA14, the ECA21 segment corresponding to HSA5 is a more conserved region because of preserved gene order in a larger number of and more diverse species. Further, comparison of ECA14 and the distal three-quarters region of ECA21 with corresponding chromosomal segments in 50 species belonging to 11 mammalian orders provides a broad overview of the evolution of these segments in individual orders from the putative ancestral chromosomal configuration. Of particular interest is the identification and precise demarcation of equid/Perissodactyl-specific features that for the first time clearly distinguish the origins of ECA14 and ECA21 from similar-looking status in the Cetartiodactyls.

  19. Structure of the human chromosome interaction network.

    Directory of Open Access Journals (Sweden)

    Sergio Sarnataro

    Full Text Available New Hi-C technologies have revealed that chromosomes have a complex network of spatial contacts in the cell nucleus of higher organisms, whose organisation is only partially understood. Here, we investigate the structure of such a network in human GM12878 cells, to derive a large scale picture of nuclear architecture. We find that the intensity of intra-chromosomal interactions is power-law distributed. Inter-chromosomal interactions are two orders of magnitude weaker and exponentially distributed, yet they are not randomly arranged along the genomic sequence. Intra-chromosomal contacts broadly occur between epigenomically homologous regions, whereas inter-chromosomal contacts are especially associated with regions rich in highly expressed genes. Overall, genomic contacts in the nucleus appear to be structured as a network of networks where a set of strongly individual chromosomal units, as envisaged in the 'chromosomal territory' scenario derived from microscopy, interact with each other via on average weaker, yet far from random and functionally important interactions.

  20. Computer tomographic assessment of postoperative peripancreatic collections after distal pancreatectomy.

    Science.gov (United States)

    Uchida, Yuichiro; Masui, Toshihiko; Sato, Asahi; Nagai, Kazuyuki; Anazawa, Takayuki; Takaori, Kyoichi; Uemoto, Shinji

    2018-03-27

    Peripancreatic collections occur frequently after distal pancreatectomy. However, the sequelae of peripancreatic collections vary from case to case, and their clinical impact is uncertain. In this study, the correlations between CT findings of peripancreatic collections and complications after distal pancreatectomy were investigated. Ninety-six consecutive patients who had undergone distal pancreatectomy between 2010 and 2015 were retrospectively investigated. The extent and heterogeneity of peripancreatic collections and background clinicopathological characteristics were analyzed. The extent of peripancreatic collections was calculated based on three-dimensional computed tomography images, and the degree of heterogeneity of peripancreatic collections was assessed based on the standard deviation of their density on computed tomography. Of 85 patients who underwent postoperative computed tomography imaging, a peripancreatic collection was detected in 77 (91%). Patients with either a large extent or a high degree of heterogeneity of peripancreatic collection had a significantly higher rate of clinically relevant pancreatic fistula than those without (odds ratio 5.95, 95% confidence interval 2.12-19.72, p = 0.001; odds ratio 8.0, 95% confidence interval 2.87-24.19, p = 0.0001, respectively). A large and heterogeneous peripancreatic collection was significantly associated with postoperative complications, especially clinically relevant postoperative pancreatic fistula. A small and homogenous peripancreatic collection could be safely observed.

  1. Total elbow arthroplasty for the treatment of distal humeral fractures.

    Science.gov (United States)

    Gallucci, G L; Larrondo Calderón, W; Boretto, J G; Castellaro Lantermo, J A; Terán, J; de Carli, P

    2016-01-01

    To report the clinical-functional outcomes of the treatment of humeral distal fractures with a total elbow prosthesis. This retrospective study was performed in two surgical centres. A total of 23patients were included, with a mean age of 79years, and of which 21 were women. The inclusion criteria were: patients with humeral distal fractures, operated on using a Coonrad-Morrey prosthesis, and with a follow-up of more than one year. According to AO classification, 15fractures were type C3, 7 C2 and 1 A2. All patients were operated on without de-insertion of the extensor mechanism. The mean follow-up was 40 months. Flexor-extension was 123-17°, with a total mobility arc of 106° (80% of the contralateral side). Pain, according to a visual analogue scale was 1. The Mayo Elbow Performance Index (MEPI) was 83 points. Excellent results were obtained in 8 patients, good in 13, medium in 1, and poor in 1. The mean DASH (disability) score was 24 points. Treatment of humeral distal fractures with total elbow arthroplasty could be a good treatment option, but indications must be limited to patients with complex fractures, poor bone quality, with osteoporosis and low functional demands. In younger patients, the use is limited to serious cases where there is no other treatment option. Level of Evidence IV. Copyright © 2016 SECOT. Published by Elsevier Espana. All rights reserved.

  2. Distal antebrachial fractures in toy-breed dogs

    International Nuclear Information System (INIS)

    Muir, P.

    1997-01-01

    Antebrachial fractures account for approximately 17% of all canine fractures, with motor vehicle trauma cited as one of the primary causes. However, antebrachial fractures in toy-breed dogs are often sustained after apparently minimal trauma, such as jumping or falling, and are usually distal. The cause of antebrachial fractures in toy breeds is not well understood. Complications after treatment of distal antebrachial fractures in toy-breed dogs, including delayed union, nonunion, and malunion, are common and are potentially serious because they may necessitate limb amputation. This article reports on distal antebrachial fractures in 26 toy-breed dogs that wee presented to the University of California, Davis, Veterinary Medical Teaching Hospital from April 1987 to March 1996. The author found that (1) these fractures typically occur in growing or adolescent dogs; (2) the presence of complications of union is typically associated with prior treatment using intramedullary pinning or external coaptation; and (3) successful healing of this type of fracture is obtained via rigid stabilization with bone plating in combination with cancellous bone autograft

  3. Suture anchor tenodesis in repair of distal Achilles tendon injuries.

    Science.gov (United States)

    Kiliçoğlu, Onder; Türker, Mehmet; Yildız, Fatih; Akalan, Ekin; Temelli, Yener

    2014-01-01

    Distal Achilles tendon avulsions are in the form of either bony and nonbony avulsion of Achilles tendon from its calcaneal insertion. Four patients with distal Achilles tendon avulsions or ruptures which were treated with tendon to bone repair using suture anchors are presented here. Operated leg was immobilized in above-knee cast for 4 weeks while the patient walked non-weight-bearing. Then, cast was changed to below knee, and full weight-bearing was allowed. Patients underwent gait analysis minimum at first postoperative year. Mean American Orthopedics Foot Ankle Society ankle/hindfoot score of patients at last visit was 88.75 (range 85-100), and Achilles tendon total rupture score was 77.75 (range 58-87). Mean passive dorsiflexion of injured ankles (14° ± 5°) was lower than uninjured ankles (23° ± 9°). All the kinematic parameters of gait analysis were comparable to the uninjured side. Maximum plantar flexion power of injured ankle was 1.40 W/kg, and this was significantly lower than the contralateral side value 2.38 W/kg; (P = 0.0143). There were no visually altered gait or problems in daily life. Suture anchor tenodesis technique of distal Achilles tendon avulsions was successful in achieving durable osteotendinous repairs.

  4. Laparoscopic distal pancreatectomy for adenocarcinoma of the pancreas

    Science.gov (United States)

    Björnsson, Bergthor; Sandström, Per

    2014-01-01

    Since the first report on laparoscopic distal pancreatectomy (LDP) appeared in the 1990s, the procedure has been performed increasingly frequently to treat both benign and malignant lesions of the pancreas. Many earlier publications have shown LDP to be a good alternative to open distal pancreatectomy for benign lesions, although this has never been studied in a prospective, randomized manner. The evidence for the use of LDP to treat adenocarcinoma of the pancreas is not as well established. The purpose of this review is to evaluate the current evidence for LDP in cases of pancreatic adenocarcinoma. We conducted a review of English language publications reporting LDP results between 1990 and 2013. All studies reporting results in patients with histologically proven pancreatic adenocarcinoma were included. Thirty-nine publications were found and included in the results for a total of 309 cases of pancreatic adenocarcinoma (potential double publications were not eliminated). Most LDP procedures are performed in selected cases and generally involve smaller tumors than open distal pancreatectomy (ODP) procedures. Some of the papers report unselected cases and include procedures on larger tumors. The number of lymph nodes harvested using LDP is comparable to the number obtained with ODP, as is the frequency of R0 resections. Current data suggest that similar short term oncological results can be obtained using LDP as those obtained using ODP. PMID:25309072

  5. Importance of early audiologic assessment in distal renal tubular acidosis

    Directory of Open Access Journals (Sweden)

    Elizabeth Norgett

    2010-12-01

    Full Text Available Anand P Swayamprakasam1, Elizabeth Stover1, Elizabeth Norgett1, Katherine G Blake-Palmer1, Michael J Cunningham2, Fiona E Karet11Department of Medical Genetics, Cambridge Institute for Medical Research, Cambridge, UK; 2Department of Otolaryngology, Massachusetts Eye and Ear Infirmary, Boston, MA, USAAbstract: Autosomal recessive distal renal tubular acidosis is usually a severe disease of childhood, often presenting as failure to thrive in infancy. It is often, but not always, accompanied by sensorineural hearing loss, the clinical severity and age of onset of which may be different from the other clinical features. Mutations in either ATP6V1B1 or ATP6V0A4 are the chief causes of primary distal renal tubular acidosis with or without hearing loss, although the loss is often milder in the latter. We describe a kindred with compound heterozygous alterations in ATP6V0A4, where hearing loss was formally diagnosed late in both siblings such that they missed early opportunities for hearing support. This kindred highlights the importance of routine audiologic assessments of all children with distal renal tubular acidosis, irrespective either of age at diagnosis or of which gene is mutated. In addition, when diagnostic genetic testing is undertaken, both genes should be screened irrespective of current hearing status. A strategy for this is outlined.Keywords: sensorineural hearing loss, renal tubular acidosis, recessive, genetics, mutation

  6. Ionotropic GABA Receptors and Distal Retinal ON and OFF Responses

    Directory of Open Access Journals (Sweden)

    E. Popova

    2014-01-01

    Full Text Available In the vertebrate retina, visual signals are segregated into parallel ON and OFF pathways, which provide information for light increments and decrements. The segregation is first evident at the level of the ON and OFF bipolar cells in distal retina. The activity of large populations of ON and OFF bipolar cells is reflected in the b- and d-waves of the diffuse electroretinogram (ERG. The role of gamma-aminobutyric acid (GABA, acting through ionotropic GABA receptors in shaping the ON and OFF responses in distal retina, is a matter of debate. This review summarized current knowledge about the types of the GABAergic neurons and ionotropic GABA receptors in the retina as well as the effects of GABA and specific GABAA and GABAC receptor antagonists on the activity of the ON and OFF bipolar cells in both nonmammalian and mammalian retina. Special emphasis is put on the effects on b- and d-waves of the ERG as a useful tool for assessment of the overall function of distal retinal ON and OFF channels. The role of GABAergic system in establishing the ON-OFF asymmetry concerning the time course and absolute and relative sensitivity of the ERG responses under different conditions of light adaptation in amphibian retina is also discussed.

  7. Three-stage treatment protocol for recalcitrant distal femoral nonunion.

    Science.gov (United States)

    Ma, Ching-Hou; Chiu, Yen-Chun; Tu, Yuan-Kun; Yen, Cheng-Yo; Wu, Chin-Hsien

    2017-04-01

    In this study, we proposed a three-stage treatment protocol for recalcitrant distal femoral nonunion and aimed to analyze the clinical results. We retrospective reviewed 12 consecutive patients with recalcitrant distal femoral nonunion undergoing our three-stage treatment protocol from January 2010 to December 2014 in our institute. The three-stage treatment protocol comprised debridement of the nonunion site, lengthening to eliminate leg length discrepancy, deformity correction, stabilization with a locked plate, filling of the defect with cement spacer for inducing membrane formation, and bone reconstruction using a cancellous bone autograft (Masquelet technique) or free vascularized fibular bone graft. The bone union time, wound complication, lower limbs alignment, amount of lengthening, knee range of motion, and functional outcomes were evaluated. Osseous union with angular deformity lengthening was 5.88 cm (range 3.5-12 cm). Excellent or good outcomes were obtained in 9 patients. Although the current study involved only a small number of patients and the intervention comprised three stages, we believe that such a protocol may be a valuable alternative for the treatment of recalcitrant distal femoral nonunion.

  8. Chromosomal aberrations in benign prostatic hyperplasia patients

    Directory of Open Access Journals (Sweden)

    Muammer Altok

    2016-01-01

    Full Text Available Purpose: To investigate the chromosomal changes in patients with benign prostatic hyperplasia (BPH. Materials and Methods: A total of 54 patients diagnosed with clinical BPH underwent transurethral prostate resection to address their primary urological problem. All patients were evaluated by use of a comprehensive medical history and rectal digital examination. The preoperative evaluation also included serum prostate-specific antigen (PSA measurement and ultrasonographic measurement of prostate volume. Prostate cancer was detected in one patient, who was then excluded from the study. We performed conventional cytogenetic analyses of short-term cultures of 53 peripheral blood samples obtained from the BPH patients. Results: The mean (±standard deviation age of the 53 patients was 67.8±9.4 years. The mean PSA value of the patients was 5.8±7.0 ng/mL. The mean prostate volume was 53.6±22.9 mL. Chromosomal abnormalities were noted in 5 of the 53 cases (9.4%. Loss of the Y chromosome was the most frequent chromosomal abnormality and was observed in three patients (5.7%. There was no statistically significant relationship among age, PSA, prostate volume, and chromosomal changes. Conclusions: Loss of the Y chromosome was the main chromosomal abnormality found in our study. However, this coexistence did not reach a significant level. Our study concluded that loss of the Y chromosome cannot be considered relevant for the diagnosis of BPH as it is for prostate cancer. Because BPH usually occurs in aging men, loss of the Y chromosome in BPH patients may instead be related to the aging process.

  9. Chromosome breakage in Vicia faba by ozone

    Energy Technology Data Exchange (ETDEWEB)

    Fetner, R H

    1958-02-15

    Meristem cells of Vicia faba roots were exposed to an atmosphere of ozone and the fraction of cells showing chromosome aberrations were recorded. Chromosome aberrations were observed on a dose-response basis after exposing the seeds to 0.4 wt. percent ozone for 15, 30, and 60 minutes. The results of ozone, x-rays, and ozone and x-ray treatments are presented. A small number of root tips from each group was treated with colchicine and an analysis made of metaphase aberrations. These observations confirmed that the aberrations were all of the chromosome-type.

  10. Genetic and chromosomal effects of ionizing radiation

    International Nuclear Information System (INIS)

    Anon.

    1981-01-01

    The genetic and chromosomal effects of ionizing radiations deal with those effects in the descendants of the individuals irradiated. The information base concerning genetic and chromosomal injury to humans from radiation is less adequate than is the information base for cancer and leukemia. As a result, it is not possible to make the kinds of quantitative estimates that have been made for carcinogenesis in previous chapters of this book. The chapter includes a detailed explanation of various types of genetic injuries such as chromosomal diseases, x-linked diseases, autosomal dominant diseases, recessive diseases, and irregularly inherited diseases. Quantitative estimates of mutation rates and incidences are given based on atomic bomb survivors data

  11. Chromosome mosaicism in hypomelanosis of Ito.

    Science.gov (United States)

    Ritter, C L; Steele, M W; Wenger, S L; Cohen, B A

    1990-01-01

    Our finding of chromosome mosaicism with a ring 22 in a retarded black boy with hypomelanosis of Ito prompted a review of this "syndrome." Most patients have a variety of non-dermal defects, particularly those affecting CNS function. Among karyotyped patients, most are chromosome mosaics of one sort or another. Hypomelanosis of Ito turns out to be a causable non-specific phenotype, i.e., a clinical marker for chromosome mosaicism of all different types in individuals with a dark enough skin to show lighter patches. Consequently, cytogenetic evaluation is indicated in all patients with this skin finding.

  12. The Barley Chromosome 5 Linkage Map

    DEFF Research Database (Denmark)

    Jensen, J.; Jørgensen, Jørgen Helms

    1975-01-01

    The distances between nine loci on barley chromosome 5 have been studied in five two-point tests, three three-point tests, and one four-point test. Our previous chromosome 5 linkage map, which contained eleven loci mapped from literature data (Jensen and Jørgensen 1975), is extended with four loci......-position is fixed on the map by a locus (necl), which has a good marker gene located centrally in the linkage group. The positions of the other loci are their distances in centimorgans from the 0-position; loci in the direction of the short chromosome arm are assigned positive values and those...

  13. Antibodies against chromosomal beta-lactamase

    DEFF Research Database (Denmark)

    Giwercman, B; Rasmussen, J W; Ciofu, Oana

    1994-01-01

    A murine monoclonal anti-chromosomal beta-lactamase antibody was developed and an immunoblotting technique was used to study the presence of serum and sputum antibodies against Pseudomonas aeruginosa chromosomal group 1 beta-lactamase in patients with cystic fibrosis (CF). The serum antibody...... 1 cephalosporinase. We found a wide range of chromosomal beta-lactamase activity in the sputum samples, with no correlation with basal or induced activity of beta-lactamase expression. The presence of anti-beta-lactamase antibodies in endobronchial sputum could be an important factor in the defense...

  14. [Results After Distal Digital Replantation - Is It Worth The Effort?

    Science.gov (United States)

    Braig, David; Thiele, Jan R; Penna, Vincenzo; Stark, G Björn; Eisenhardt, Steffen U

    2017-02-01

    There are only relative indications for distal digital replantation in zones 1 and 2 according to Tamai. In contrast to primary closure for fingertip amputations, replantation is a complex procedure that requires skills in supermicrosurgical techniques, as vessels with diameters between 0.3-0.8 mm are connected. In addition the time spent in hospital and the time off from work are longer. Distal digital replantation is thus only indicated, if the expected functional and aesthetic benefits surmount those of primary closure. We retrospectively analysed all fingertip amputations in zone 1 and 2 according to Tamai between 9/2009 and 7/2014 where we attempted distal digital replantation. The success of replantation, wound healing and functional results were evaluated according to Yamano. We performed 11 distal digital replantations in the study period. There were 6 total amputations, 4 subtotal amputations and 1 avulsion of the digital pulp. Revascularisation with long-term reattachment of the amputated tissues was possible in 8 cases (73%). In 3 cases (27%) secondary amputation closure was necessary. The mean operating time was 3 h 56 min. 6 patients, which had a successful replantation, were available for follow-up examinations after a mean period of 19 months. 5 patients were satisfied with the result and would again prefer replantation over primary amputation closure. 4 patients reported a good function of the replanted digits and did not complain about any limitations in their use. 2 patients complained about restricted function. All patients could return to their previous places of employment and were free of pain. Of the 12 affected digital nerves 11 nerves had a 2-point discrimination (2-PD) of ≤15 mm, 3 of them had a 2-PD between 7 and 10 mm and 4 of them of replanted digits and nail deformities in 2 patients. Distal digital replantation is complex and technically challenging. It leads to high patient satisfaction with only minimal functional

  15. Linkage of Usher syndrome type I gene (USH1B) to the long arm of chromosome 11.

    Science.gov (United States)

    Kimberling, W J; Möller, C G; Davenport, S; Priluck, I A; Beighton, P H; Greenberg, J; Reardon, W; Weston, M D; Kenyon, J B; Grunkemeyer, J A

    1992-12-01

    Usher syndrome is the most commonly recognized cause of combined visual and hearing loss in technologically developed countries. There are several different types and all are inherited in an autosomal recessive manner. There may be as many as five different genes responsible for at least two closely related phenotypes. The nature of the gene defects is unknown, and positional cloning strategies are being employed to identify the genes. This is a report of the localization of one gene for Usher syndrome type I to chromosome 11q, probably distal to marker D11S527. Another USH1 gene had been previously localized to chromosome 14q, and this second localization establishes the existence of a new and independent locus for Usher syndrome.

  16. HIM-8 binds to the X chromosome pairing center and mediates chromosome-specific meiotic synapsis.

    Science.gov (United States)

    Phillips, Carolyn M; Wong, Chihunt; Bhalla, Needhi; Carlton, Peter M; Weiser, Pinky; Meneely, Philip M; Dernburg, Abby F

    2005-12-16

    The him-8 gene is essential for proper meiotic segregation of the X chromosomes in C. elegans. Here we show that loss of him-8 function causes profound X chromosome-specific defects in homolog pairing and synapsis. him-8 encodes a C2H2 zinc-finger protein that is expressed during meiosis and concentrates at a site on the X chromosome known as the meiotic pairing center (PC). A role for HIM-8 in PC function is supported by genetic interactions between PC lesions and him-8 mutations. HIM-8 bound chromosome sites associate with the nuclear envelope (NE) throughout meiotic prophase. Surprisingly, a point mutation in him-8 that retains both chromosome binding and NE localization fails to stabilize pairing or promote synapsis. These observations indicate that stabilization of homolog pairing is an active process in which the tethering of chromosome sites to the NE may be necessary but is not sufficient.

  17. HIM-8 binds to the X chromosome pairing center and mediates chromosome-specific meiotic synapsis

    International Nuclear Information System (INIS)

    Phillips, Carolyn M.; Wong, Chihunt; Bhalla, Needhi; Carlton, Peter M.; Weiser, Pinky; Meneely, Philip M.; Dernburg, Abby F.

    2005-01-01

    The him-8 gene is essential for proper meiotic segregation of the X chromosomes in C. elegans. Here we show that loss of him-8 function causes profound X-chromosome-specific defects in homolog pairing and synapsis.him-8 encodes a C2H2 zinc finger protein that is expressed during meiosis and concentrates at a site on the X chromosome known as themeiotic Pairing Center (PC). A role for HIM-8 in PC function is supported by genetic interactions between PC lesions and him-8 mutations. HIM-8-bound chromosome sites associate with the nuclear envelope (NE)throughout meiotic prophase. Surprisingly, a point mutation in him-8 that retains both chromosome binding and NE localization fails to stabilize pairing or promote synapsis. These observations indicate that stabilization of homolog pairing is an active process in which the tethering of chromosome sites to the NE may be necessary but is not sufficient

  18. Drug-induced premature chromosome condensation (PCC) protocols: cytogenetic approaches in mitotic chromosome and interphase chromatin.

    Science.gov (United States)

    Gotoh, Eisuke

    2015-01-01

    Chromosome analysis is a fundamental technique which is used in wide areas of cytogenetic study including karyotyping species, hereditary diseases diagnosis, or chromosome biology study. Chromosomes are usually prepared from mitotic cells arrested by colcemid block protocol. However, obtaining mitotic chromosomes is often hampered under several circumstances. As a result, cytogenetic analysis will be sometimes difficult or even impossible in such cases. Premature chromosome condensation (PCC) (see Note 1) is an alternative method that has proved to be a unique and useful way in chromosome analysis. Former, PCC has been achieved following cell fusion method (cell-fusion PCC) mediated either by fusogenic viruses (e.g., Sendai virus) or cell fusion chemicals (e.g., polyethylene glycol), but the cell fusion PCC has several drawbacks. The novel drug-induced PCC using protein phosphatase inhibitors was introduced about 20 years ago. This method is much simpler and easier even than the conventional mitotic chromosome preparation protocol use with colcemid block and furthermore obtained PCC index (equivalent to mitotic index for metaphase chromosome) is usually much higher than colcemid block method. Moreover, this method allows the interphase chromatin to be condensed to visualize like mitotic chromosomes. Therefore drug-induced PCC has opened the way for chromosome analysis not only in metaphase chromosomes but also in interphase chromatin. The drug-induced PCC has thus proven the usefulness in cytogenetics and other cell biology fields. For this second edition version, updated modifications/changes are supplemented in Subheadings 2, 3, and 4, and a new section describing the application of PCC in chromosome science fields is added with citation of updated references.

  19. Why Do Sex Chromosomes Stop Recombining?

    Science.gov (United States)

    Ponnikas, Suvi; Sigeman, Hanna; Abbott, Jessica K; Hansson, Bengt

    2018-04-28

    It is commonly assumed that sex chromosomes evolve recombination suppression because selection favours linkage between sex-determining and sexually antagonistic genes. However, although the role of sexual antagonism during sex chromosome evolution has attained strong support from theory, experimental and observational evidence is rare or equivocal. Here, we highlight alternative, often neglected, hypotheses for recombination suppression on sex chromosomes, which invoke meiotic drive, heterozygote advantage, and genetic drift, respectively. We contrast the hypotheses, the situations when they are likely to be of importance, and outline why it is surprisingly difficult to test them. Lastly, we discuss future research directions (including modelling, population genomics, comparative approaches, and experiments) to disentangle the different hypotheses of sex chromosome evolution. Copyright © 2018 Elsevier Ltd. All rights reserved.

  20. Human oocyte chromosome analyses need a standardized ...

    Indian Academy of Sciences (India)

    Studies of DNA polymorphisms in human trisomic abor- tions and liveborn have ... Keywords. human oocyte chromosomes; cytogenetic analysis; aneuploidy; nondisjunction; predivision. Journal of .... oocytes and giant embryos. Hum. Reprod.

  1. Conservation of sex chromosomes in lacertid lizards

    Czech Academy of Sciences Publication Activity Database

    Rovatsos, M.; Vukič, J.; Altmanová, M.; Johnson Pokorná, Martina; Moravec, J.; Kratochvíl, L.

    2016-01-01

    Roč. 25, č. 13 (2016), s. 3120-3126 ISSN 0962-1083 Institutional support: RVO:67985904 Keywords : lizards * molecular sex ing * reptiles * sex chromosomes Subject RIV: EG - Zoology Impact factor: 6.086, year: 2016

  2. Micro-Raman spectroscopy of chromosomes

    NARCIS (Netherlands)

    de Mul, F.F.M.; van Welle, A.G.M.; Otto, Cornelis; Greve, Jan

    1984-01-01

    Raman spectra of intact chromosomes (Chinese hamster), recorded with a microspectrometer, are reported. The spectra could be assigned to protein and DNA contributions. Protein and DNA conformations and the ratio of base pairs in DNA were determined.

  3. Partial Duplication of Chromosome 8p

    African Journals Online (AJOL)

    rme

    The partial chromosome 8p duplication is a rare syndrome and is ... abnormality of maternal origin that ... second trimester by vaginal bleeding and ... echocardiography, brain CT scan and. MRI. Fig. 1:Conventional karyotype of case 3 showing.

  4. Chromosomal contact permits transcription between coregulated genes

    CSIR Research Space (South Africa)

    Fanucchi, Stephanie

    2013-10-01

    Full Text Available . To ask whether chromosomal contacts are required for cotranscription in multigene complexes, we devised a strategy using TALENs to cleave and disrupt gene loops in a well-characterized multigene complex. Monitoring this disruption using RNA FISH...

  5. Evaluation of chromosomal abnormalities and common trombophilic ...

    African Journals Online (AJOL)

    2014-03-01

    Mar 1, 2014 ... Infections, genetic, endocrine, anatomic and immunologic problems have been suggested as causes for RM. ... Metaphase chromosome preparations from the .... The rate of karyotypically abnormal abortion specimens.

  6. Histone modifications: Cycling with chromosomal replication

    DEFF Research Database (Denmark)

    Thon, Genevieve

    2008-01-01

    Histone modifications tend to be lost during chromosome duplication. Several recent studies suggest that the RNA interference pathway becomes active during the weakened transcriptional repression occurring at centromeres in S phase, resulting in the re-establishment of histone modifications...

  7. Complement activation in chromosome 13 dementias

    DEFF Research Database (Denmark)

    Rostagno, A.; Revesz, T.; Lashley, T.

    2002-01-01

    Chromosome 13 dementias, familial British dementia (FBD) and familial Danish dementia (FDD), are associated with neurodegeneration and cerebrovascular amyloidosis, with striking neuropathological similarities to Alzheimer's disease (AD). Despite the structural differences among the amyloid subunits...

  8. Non-disjunction of chromosome 13

    DEFF Research Database (Denmark)

    Bugge, Merete; Collins, Andrew; Hertz, Jens Michael

    2007-01-01

    We performed a molecular study with 21 microsatellites on a sample of 82 trisomy 13 conceptuses, the largest number of cases studied to date. The parental origin was determined in every case and in 89% the extra chromosome 13 was of maternal origin with an almost equal number of maternal MI and MII...... recombination in both maternal MI and MII errors and the former is associated with a significant number of tetrads (33%) that are nullichiasmate, which do not appear to be a feature of normal chromosome 13 meiosis. This study supports the evidence for subtle chromosome-specific influences on the mechanisms...... that determine non-disjunction of human chromosomes, consistent with the diversity of findings for other trisomies. Udgivelsesdato: 2007-Aug-15...

  9. System for the analysis of plant chromosomes

    International Nuclear Information System (INIS)

    Medina Martin, D.; Peraza Gonzalez, L.H.

    1996-01-01

    The paper describes a computer system for the automation workers of recognition analysis and interpretation of plant chromosomes. This system permit to carry out the analysis in a more comfortable and faster way, using the image processing techniques

  10. Sex chromosomes and speciation in Drosophila

    Science.gov (United States)

    Presgraves, Daven C.

    2010-01-01

    Two empirical rules suggest that sex chromosomes play a special role in speciation. The first is Haldane's rule— the preferential sterility and inviability of species hybrids of the heterogametic (XY) sex. The second is the disproportionately large effect of the X chromosome in genetic analyses of hybrid sterility. Whereas the causes of Haldane's rule are well established, the causes of the ‘large X-effect’ have remained controversial. New genetic analyses in Drosophila confirm that the X is a hotspot for hybrid male sterility factors, providing a proximate explanation for the large X-effect. Several other new findings— on faster X evolution, X chromosome meiotic drive, and the regulation of the X chromosome in the male-germline— provide plausible evolutionary explanations for the large X-effect. PMID:18514967

  11. Errata :Chromosomal Abnormalities in Couples with Recurrent ...

    African Journals Online (AJOL)

    Chromosomal Abnormalities in Couples with Recurrent Abortions in Lagos, Nigeria. Akinde OR, Daramola A O, Taiwo I A, Afolayan M O and Akinsola Af. Sonographic Mammary Gland Density Pattern in Women in Selected ommunities of Southern Nigeria.

  12. Chromosome evolution in Cophomantini (Amphibia, Anura, Hylinae)

    Science.gov (United States)

    Suárez, Pablo; Boeris, Juan M.; Blasco-Zúñiga, Ailin; Barbero, Gastón; Gomes, Anderson; Gazoni, Thiago; Costa, William; Nagamachi, Cleusa Y.; Rivera, Miryan; Parise-Maltempi, Patricia P.; Wiley, John E.; Pieczarka, Julio C.; Haddad, Celio F. B.; Faivovich, Julián; Baldo, Diego

    2018-01-01

    The hylid tribe Cophomantini is a diverse clade of Neotropical treefrogs composed of the genera Aplastodiscus, Boana, Bokermannohyla, Hyloscirtus, and Myersiohyla. The phylogenetic relationships of Cophomantini have been comprehensively reviewed in the literature, providing a suitable framework for the study of chromosome evolution. Employing different banding techniques, we studied the chromosomes of 25 species of Boana and 3 of Hyloscirtus; thus providing, for the first time, data for Hyloscirtus and for 15 species of Boana. Most species showed karyotypes with 2n = 2x = 24 chromosomes; some species of the B. albopunctata group have 2n = 2x = 22, and H. alytolylax has 2n = 2x = 20. Karyotypes are all bi-armed in most species presented, with the exception of H. larinopygion (FN = 46) and H. alytolylax (FN = 38), with karyotypes that have a single pair of small telocentric chromosomes. In most species of Boana, NORs are observed in a single pair of chromosomes, mostly in the small chromosomes, although in some species of the B. albopunctata, B. pulchella, and B. semilineata groups, this marker occurs on the larger pairs 8, 1, and 7, respectively. In Hyloscirtus, NOR position differs in the three studied species: H. alytolylax (4p), H. palmeri (4q), and H. larinopygion (1p). Heterochromatin is a variable marker that could provide valuable evidence, but it would be necesserary to understand the molecular composition of the C-bands that are observed in different species in order to test its putative homology. In H. alytolylax, a centromeric DAPI+ band was observed on one homologue of chromosome pair 2. The band was present in males but absent in females, providing evidence for an XX/XY sex determining system in this species. We review and discuss the importance of the different chromosome markers (NOR position, C-bands, and DAPI/CMA3 patterns) for their impact on the taxonomy and karyotype evolution in Cophomantini. PMID:29444174

  13. Demasculinization of the Anopheles gambiae X chromosome

    Directory of Open Access Journals (Sweden)

    Magnusson Kalle

    2012-05-01

    Full Text Available Abstract Background In a number of organisms sex-biased genes are non-randomly distributed between autosomes and the shared sex chromosome X (or Z. Studies on Anopheles gambiae have produced conflicting results regarding the underrepresentation of male-biased genes on the X chromosome and it is unclear to what extent sexual antagonism, dosage compensation or X-inactivation in the male germline, the evolutionary forces that have been suggested to affect the chromosomal distribution of sex-biased genes, are operational in Anopheles. Results We performed a meta-analysis of sex-biased gene expression in Anopheles gambiae which provides evidence for a general underrepresentation of male-biased genes on the X-chromosome that increased in significance with the observed degree of sex-bias. A phylogenomic comparison between Drosophila melanogaster, Aedes aegypti and Culex quinquefasciatus also indicates that the Anopheles X chromosome strongly disfavours the evolutionary conservation of male-biased expression and that novel male-biased genes are more likely to arise on autosomes. Finally, we demonstrate experimentally that transgenes situated on the Anopheles gambiae X chromosome are transcriptionally silenced in the male germline. Conclusion The data presented here support the hypothesis that the observed demasculinization of the Anopheles X chromosome is driven by X-chromosome inactivation in the male germline and by sexual antagonism. The demasculinization appears to be the consequence of a loss of male-biased expression, rather than a failure in the establishment or the extinction of male-biased genes.

  14. Human Chromosome 7: DNA Sequence and Biology

    OpenAIRE

    Scherer, Stephen W.; Cheung, Joseph; MacDonald, Jeffrey R.; Osborne, Lucy R.; Nakabayashi, Kazuhiko; Herbrick, Jo-Anne; Carson, Andrew R.; Parker-Katiraee, Layla; Skaug, Jennifer; Khaja, Razi; Zhang, Junjun; Hudek, Alexander K.; Li, Martin; Haddad, May; Duggan, Gavin E.

    2003-01-01

    DNA sequence and annotation of the entire human chromosome 7, encompassing nearly 158 million nucleotides of DNA and 1917 gene structures, are presented. To generate a higher order description, additional structural features such as imprinted genes, fragile sites, and segmental duplications were integrated at the level of the DNA sequence with medical genetic data, including 440 chromosome rearrangement breakpoints associated with disease. This approach enabled the discovery of candidate gene...

  15. Chromosomal organization and segregation in Pseudomonas aeruginosa.

    Directory of Open Access Journals (Sweden)

    Isabelle Vallet-Gely

    2013-05-01

    Full Text Available The study of chromosomal organization and segregation in a handful of bacteria has revealed surprising variety in the mechanisms mediating such fundamental processes. In this study, we further emphasized this diversity by revealing an original organization of the Pseudomonas aeruginosa chromosome. We analyzed the localization of 20 chromosomal markers and several components of the replication machinery in this important opportunistic γ-proteobacteria pathogen. This technique allowed us to show that the 6.3 Mb unique circular chromosome of P. aeruginosa is globally oriented from the old pole of the cell to the division plane/new pole along the oriC-dif axis. The replication machinery is positioned at mid-cell, and the chromosomal loci from oriC to dif are moved sequentially to mid-cell prior to replication. The two chromosomal copies are subsequently segregated at their final subcellular destination in the two halves of the cell. We identified two regions in which markers localize at similar positions, suggesting a bias in the distribution of chromosomal regions in the cell. The first region encompasses 1.4 Mb surrounding oriC, where loci are positioned around the 0.2/0.8 relative cell length upon segregation. The second region contains at least 800 kb surrounding dif, where loci show an extensive colocalization step following replication. We also showed that disrupting the ParABS system is very detrimental in P. aeruginosa. Possible mechanisms responsible for the coordinated chromosomal segregation process and for the presence of large distinctive regions are discussed.

  16. Female meiotic sex chromosome inactivation in chicken.

    Directory of Open Access Journals (Sweden)

    Sam Schoenmakers

    2009-05-01

    Full Text Available During meiotic prophase in male mammals, the heterologous X and Y chromosomes remain largely unsynapsed, and meiotic sex chromosome inactivation (MSCI leads to formation of the transcriptionally silenced XY body. In birds, the heterogametic sex is female, carrying Z and W chromosomes (ZW, whereas males have the homogametic ZZ constitution. During chicken oogenesis, the heterologous ZW pair reaches a state of complete heterologous synapsis, and this might enable maintenance of transcription of Z- and W chromosomal genes during meiotic prophase. Herein, we show that the ZW pair is transiently silenced, from early pachytene to early diplotene using immunocytochemistry and gene expression analyses. We propose that ZW inactivation is most likely achieved via spreading of heterochromatin from the W on the Z chromosome. Also, persistent meiotic DNA double-strand breaks (DSBs may contribute to silencing of Z. Surprisingly, gammaH2AX, a marker of DSBs, and also the earliest histone modification that is associated with XY body formation in mammalian and marsupial spermatocytes, does not cover the ZW during the synapsed stage. However, when the ZW pair starts to desynapse, a second wave of gammaH2AX accumulates on the unsynapsed regions of Z, which also show a reappearance of the DSB repair protein RAD51. This indicates that repair of meiotic DSBs on the heterologous part of Z is postponed until late pachytene/diplotene, possibly to avoid recombination with regions on the heterologously synapsed W chromosome. Two days after entering diplotene, the Z looses gammaH2AX and shows reactivation. This is the first report of meiotic sex chromosome inactivation in a species with female heterogamety, providing evidence that this mechanism is not specific to spermatogenesis. It also indicates the presence of an evolutionary force that drives meiotic sex chromosome inactivation independent of the final achievement of synapsis.

  17. Abnormal sex chromosome constitution and longitudinal growth

    DEFF Research Database (Denmark)

    Aksglaede, Lise; Skakkebaek, Niels E; Juul, Anders

    2008-01-01

    Growth is a highly complex process regulated by the interaction between sex steroids and the GH IGF-axis. However, other factors such as sex chromosome-related genes play independent roles.......Growth is a highly complex process regulated by the interaction between sex steroids and the GH IGF-axis. However, other factors such as sex chromosome-related genes play independent roles....

  18. Chromosome evolution in Cophomantini (Amphibia, Anura, Hylinae.

    Directory of Open Access Journals (Sweden)

    Juan M Ferro

    Full Text Available The hylid tribe Cophomantini is a diverse clade of Neotropical treefrogs composed of the genera Aplastodiscus, Boana, Bokermannohyla, Hyloscirtus, and Myersiohyla. The phylogenetic relationships of Cophomantini have been comprehensively reviewed in the literature, providing a suitable framework for the study of chromosome evolution. Employing different banding techniques, we studied the chromosomes of 25 species of Boana and 3 of Hyloscirtus; thus providing, for the first time, data for Hyloscirtus and for 15 species of Boana. Most species showed karyotypes with 2n = 2x = 24 chromosomes; some species of the B. albopunctata group have 2n = 2x = 22, and H. alytolylax has 2n = 2x = 20. Karyotypes are all bi-armed in most species presented, with the exception of H. larinopygion (FN = 46 and H. alytolylax (FN = 38, with karyotypes that have a single pair of small telocentric chromosomes. In most species of Boana, NORs are observed in a single pair of chromosomes, mostly in the small chromosomes, although in some species of the B. albopunctata, B. pulchella, and B. semilineata groups, this marker occurs on the larger pairs 8, 1, and 7, respectively. In Hyloscirtus, NOR position differs in the three studied species: H. alytolylax (4p, H. palmeri (4q, and H. larinopygion (1p. Heterochromatin is a variable marker that could provide valuable evidence, but it would be necesserary to understand the molecular composition of the C-bands that are observed in different species in order to test its putative homology. In H. alytolylax, a centromeric DAPI+ band was observed on one homologue of chromosome pair 2. The band was present in males but absent in females, providing evidence for an XX/XY sex determining system in this species. We review and discuss the importance of the different chromosome markers (NOR position, C-bands, and DAPI/CMA3 patterns for their impact on the taxonomy and karyotype evolution in Cophomantini.

  19. Interphase Chromosome Profiling: A Method for Conventional Banded Chromosome Analysis Using Interphase Nuclei.

    Science.gov (United States)

    Babu, Ramesh; Van Dyke, Daniel L; Dev, Vaithilingam G; Koduru, Prasad; Rao, Nagesh; Mitter, Navnit S; Liu, Mingya; Fuentes, Ernesto; Fuentes, Sarah; Papa, Stephen

    2018-02-01

    - Chromosome analysis on bone marrow or peripheral blood samples fails in a small proportion of attempts. A method that is more reliable, with similar or better resolution, would be a welcome addition to the armamentarium of the cytogenetics laboratory. - To develop a method similar to banded metaphase chromosome analysis that relies only on interphase nuclei. - To label multiple targets in an equidistant fashion along the entire length of each chromosome, including landmark subtelomere and centromere regions. Each label so generated by using cloned bacterial artificial chromosome probes is molecularly distinct with unique spectral characteristics, so the number and position of the labels can be tracked to identify chromosome abnormalities. - Interphase chromosome profiling (ICP) demonstrated results similar to conventional chromosome analysis and fluorescence in situ hybridization in 55 previously studied cases and obtained useful ICP chromosome analysis results on another 29 cases in which conventional methods failed. - ICP is a new and powerful method to karyotype peripheral blood and bone marrow aspirate preparations without reliance on metaphase chromosome preparations. It will be of particular value for cases with a failed conventional analysis or when a fast turnaround time is required.

  20. Concave distal end of ulna metaphysis alone is not a sign of rickets

    Energy Technology Data Exchange (ETDEWEB)

    Oestreich, Alan E. [Cincinnati Children' s Hospital Medical Center, Department of Radiology, 5031, Cincinnati, OH (United States)

    2015-07-15

    Statements have been made in the literature and in legal testimony that misrepresent the radiographic finding of concave distal end of the ulnar metaphysis. To demonstrate that a concave distal end of the ossified ulna in infancy can be normal. Eighty distal wrists of randomly selected infants in the first year of life with radiographic evidence that ruled out rickets were reviewed. In 16 of the cases (20%), mild or moderate concavity of the distal end of the ulna was seen. An intact metaphyseal collar of distal radius or ulna confirmed the absence of radiographic rickets. The finding of 20% of concave distal ulnas in the first year of life confirms the widely acknowledged statements that concave distal end of the ulna alone is not indicative of rickets. Statements to the contrary are not justified. (orig.)

  1. Concave distal end of ulna metaphysis alone is not a sign of rickets

    International Nuclear Information System (INIS)

    Oestreich, Alan E.

    2015-01-01

    Statements have been made in the literature and in legal testimony that misrepresent the radiographic finding of concave distal end of the ulnar metaphysis. To demonstrate that a concave distal end of the ossified ulna in infancy can be normal. Eighty distal wrists of randomly selected infants in the first year of life with radiographic evidence that ruled out rickets were reviewed. In 16 of the cases (20%), mild or moderate concavity of the distal end of the ulna was seen. An intact metaphyseal collar of distal radius or ulna confirmed the absence of radiographic rickets. The finding of 20% of concave distal ulnas in the first year of life confirms the widely acknowledged statements that concave distal end of the ulna alone is not indicative of rickets. Statements to the contrary are not justified. (orig.)

  2. Chromosomes in the genesis and progression of ependymomas

    DEFF Research Database (Denmark)

    Rogatto, S R; Casartelli, C; Rainho, C A

    1993-01-01

    chromosomes in three cases. Structural rearrangements of chromosome 2 were a finding for all cases and involved loss of material at 2q32-34. Other structural chromosome abnormalities detected involved chromosomes 4, 6, 10, 11, 12, and X. We also reviewed data on 22 cases previously reported....

  3. Chromosome abnormalities in atomic bomb survivors

    Energy Technology Data Exchange (ETDEWEB)

    Tomonaga, Y [Nagasaki Univ. (Japan). School of Medicine

    1976-09-01

    Chromosome abnormalities in bone marrow cells were recognized in 6 cases which consisted of one case of chronic myelogenous leukemia, two cases of acute myelogenous leukemia, one case of sideroblastic anemia, and two cases of myelodysplasis. Frequency of stable type chromosome abnormalities in bone marrow cells was investigated in 45 atomic bomb survivors without hematologic disorders and 15 controls. It was 1.4% (15 cases) in the group exposed to atomic bomb within 1 km from the hypocenter, which was significantly higher as compared with 0.1% (15 cases) in the group exposed to atomic bomb over 2.5 km from the hypocenter and 0.2% in normal controls. Examination of chromosome was also made on 2 of 3 cases which were the seconds born of female with high chromosome abnormality, who was exposed to within 1 km from the hypocenter, and healthy male exposed 3 km from the hypocenter. These two cases showed chromosome of normal male type, and balanced translocation was not recognized. There was not a significant difference in chromosome abnormalities between the seconds of atomic bomb survivors and controls.

  4. Evolutionary stability of sex chromosomes in snakes.

    Science.gov (United States)

    Rovatsos, Michail; Vukić, Jasna; Lymberakis, Petros; Kratochvíl, Lukáš

    2015-12-22

    Amniote vertebrates possess various mechanisms of sex determination, but their variability is not equally distributed. The large evolutionary stability of sex chromosomes in viviparous mammals and birds was believed to be connected with their endothermy. However, some ectotherm lineages seem to be comparably conserved in sex determination, but previously there was a lack of molecular evidence to confirm this. Here, we document a stability of sex chromosomes in advanced snakes based on the testing of Z-specificity of genes using quantitative PCR (qPCR) across 37 snake species (our qPCR technique is suitable for molecular sexing in potentially all advanced snakes). We discovered that at least part of sex chromosomes is homologous across all families of caenophidian snakes (Acrochordidae, Xenodermatidae, Pareatidae, Viperidae, Homalopsidae, Colubridae, Elapidae and Lamprophiidae). The emergence of differentiated sex chromosomes can be dated back to about 60 Ma and preceded the extensive diversification of advanced snakes, the group with more than 3000 species. The Z-specific genes of caenophidian snakes are (pseudo)autosomal in the members of the snake families Pythonidae, Xenopeltidae, Boidae, Erycidae and Sanziniidae, as well as in outgroups with differentiated sex chromosomes such as monitor lizards, iguanas and chameleons. Along with iguanas, advanced snakes are therefore another example of ectothermic amniotes with a long-term stability of sex chromosomes comparable with endotherms. © 2015 The Author(s).

  5. Chromosome aberration assays in barley (Hordeum vulgare)

    Energy Technology Data Exchange (ETDEWEB)

    Constantin, M J [Univ. of Tennessee, Knoxville; Nilan, R A

    1982-01-01

    Barley is an exceellent organism for studies of induced chromosome aberrations because of its few (2n = 2x = 14) relatively large chromosomes. Root-tip and shoot-tip cells have been used extensively for the study of ionizing radiation-induced chromosome aberrations. The general procedures are well known, the technology is simple and easy to learn, and the assays are relatively quick and inexpensive. Both root tips and shoot tips can be used for the study of chemical mutagens as well as ionizing radiations. Pollen mother cells are well suited for studying the effects of mutagens on meiotic chromosomes. The literature review for the Gene-Tox Program reported on 61 chemicals tested for their effects on barley chromosomes. Of these, 90% were reported to be either positive or positive dose-related, while 7% were negative and 3% were questionable. Barley assays based on chromosomal aberrations are useful to detect the clastogenic potency of chemicals under laboratory conditions. Indications are that the data from barley can be used to corroborate data obtained from other organisms. Among the classes of chemicals assayed were: alcohols and phenols; alkaloids; epoxides; alkyl sulfates; amides and sulfonamides; aromatic amines; aryl halides; aziridines; alkenes; carbamates; hydroazides; nitroaromatics; nitrosamides; nitrosources; phenothiazines; and polycyclic aromatic hydrocarbons.

  6. Flow cytogenetics: progress toward chromosomal aberration detection

    International Nuclear Information System (INIS)

    Carrano, A.V.; Gray, J.W.; Van Dilla, M.A.

    1977-01-01

    Using clonal derivatives of the Chinese hamster M3-1 cell line, we demonstrate the potential of flow systems to karyotype homogeneous aberrations (aberrations which are identical and present in every cell) and to detect heterogeneous aberrations (aberrations which occur randomly in a population and are not identical in every cell). Flow cytometry (FCM) of ethidium bromide stained isolated chromosomes from clone 650A of the M3-1 cells distinguishes nine chromosome types from the fourteen present in the actual karyotype. X-irradiation of this parent 650A clone produced two sub-clones with an altered flow karyotype, that is, their FCM distributions were characterized by the addition of new peaks and alterations in area under existing peaks. From the relative DNA content and area for each peak, as determined by computer analysis, we predicted that each clone had undergone a reciprocal translocation involving chromosomes from two peaks. This prediction was confirmed by Giemsa-banding the metaphase cells. Heterogeneous aberrations are reflected in the flow karyotype as an increase in background, that is, an increase in area underlying the chromosome peaks. This increase is dose dependent but, as yet, the sample variability has been too large for quantitative analysis. Flow sorting of the valleys between chromosome peaks produces enriched fractions of aberrant chromosomes for visual analysis. These approaches are potentially applicable to the analysis of chromsomal aberrations induced by environmental contaminants

  7. Chromosome abnormalities in atomic bomb survivors

    International Nuclear Information System (INIS)

    Tomonaga, Yu

    1976-01-01

    Chromosome abnormalities in bone marrow cells were recognized in 6 cases which consisted of one case of chronic myelogenous leukemia, two cases of acute myelogenous leukemia, one case of sideroblastic anemia, and two cases of myelodysplasis. Frequency of stable type chromosome abnormalities in bone marrow cells was investigated in 45 atomic bomb survivors without hematologic disorders and 15 controls. It was 1.4% (15 cases) in the group exposed to atomic bomb within 1 km from the hypocenter, which was significantly higher as compared with 0.1% (15 cases) in the group exposed to atomic bomb over 2.5 km from the hypocenter and 0.2% in normal controls. Examination of chromosome was also made on 2 of 3 cases which were the seconds born of female with high chromosome abnormality, who was exposed to within 1 km from the hypocenter, and healthy male exposed 3 km from the hypocenter. These two cases showed chromosome of normal male type, and balanced translocation was not recognized. There was not a significant difference in chromosome abnormalities between the seconds of atomic bomb survivors and controls. (Kanao, N.)

  8. Hybrid Sterility Locus on Chromosome X Controls Meiotic Recombination Rate in Mouse.

    Directory of Open Access Journals (Sweden)

    Maria Balcova

    2016-04-01

    Full Text Available Meiotic recombination safeguards proper segregation of homologous chromosomes into gametes, affects genetic variation within species, and contributes to meiotic chromosome recognition, pairing and synapsis. The Prdm9 gene has a dual role, it controls meiotic recombination by determining the genomic position of crossover hotspots and, in infertile hybrids of house mouse subspecies Mus m. musculus (Mmm and Mus m. domesticus (Mmd, it further functions as the major hybrid sterility gene. In the latter role Prdm9 interacts with the hybrid sterility X 2 (Hstx2 genomic locus on Chromosome X (Chr X by a still unknown mechanism. Here we investigated the meiotic recombination rate at the genome-wide level and its possible relation to hybrid sterility. Using immunofluorescence microscopy we quantified the foci of MLH1 DNA mismatch repair protein, the cytological counterparts of reciprocal crossovers, in a panel of inter-subspecific chromosome substitution strains. Two autosomes, Chr 7 and Chr 11, significantly modified the meiotic recombination rate, yet the strongest modifier, designated meiotic recombination 1, Meir1, emerged in the 4.7 Mb Hstx2 genomic locus on Chr X. The male-limited transgressive effect of Meir1 on recombination rate parallels the male-limited transgressive role of Hstx2 in hybrid male sterility. Thus, both genetic factors, the Prdm9 gene and the Hstx2/Meir1 genomic locus, indicate a link between meiotic recombination and hybrid sterility. A strong female-specific modifier of meiotic recombination rate with the effect opposite to Meir1 was localized on Chr X, distally to Meir1. Mapping Meir1 to a narrow candidate interval on Chr X is an important first step towards positional cloning of the respective gene(s responsible for variation in the global recombination rate between closely related mouse subspecies.

  9. The transposon Galileo generates natural chromosomal inversions in Drosophila by ectopic recombination.

    Science.gov (United States)

    Delprat, Alejandra; Negre, Bàrbara; Puig, Marta; Ruiz, Alfredo

    2009-11-18

    Transposable elements (TEs) are responsible for the generation of chromosomal inversions in several groups of organisms. However, in Drosophila and other Dipterans, where inversions are abundant both as intraspecific polymorphisms and interspecific fixed differences, the evidence for a role of TEs is scarce. Previous work revealed that the transposon Galileo was involved in the generation of two polymorphic inversions of Drosophila buzzatii. To assess the impact of TEs in Drosophila chromosomal evolution and shed light on the mechanism involved, we isolated and sequenced the two breakpoints of another widespread polymorphic inversion from D. buzzatii, 2z(3). In the non inverted chromosome, the 2z(3) distal breakpoint was located between genes CG2046 and CG10326 whereas the proximal breakpoint lies between two novel genes that we have named Dlh and Mdp. In the inverted chromosome, the analysis of the breakpoint sequences revealed relatively large insertions (2,870-bp and 4,786-bp long) including two copies of the transposon Galileo (subfamily Newton), one at each breakpoint, plus several other TEs. The two Galileo copies: (i) are inserted in opposite orientation; (ii) present exchanged target site duplications; and (iii) are both chimeric. Our observations provide the best evidence gathered so far for the role of TEs in the generation of Drosophila inversions. In addition, they show unequivocally that ectopic recombination is the causative mechanism. The fact that the three polymorphic D. buzzatii inversions investigated so far were generated by the same transposon family is remarkable and is conceivably due to Galileo's unusual structure and current (or recent) transpositional activity.

  10. Meiotic synapsis of homogeneously staining regions (HSRs) in chromosome 1 of Mus musculus.

    Science.gov (United States)

    Winking, H; Reuter, C; Traut, W

    1993-05-01

    About 50 copies of a long-range repeat DNA family with a repeat size of roughly 100 kb and with sequence homology to mRNAs are clustered in the G-light band D of chromosome 1 of the house mouse, Mus musculus. We studied amplified versions of the cluster which are found in many wild populations of M. musculus. They are cytogenetically conspicuous as one or two C-band positive homogeneously staining regions (single- and double band HSRs) which increase the mitotic length of chromosome 1. The double band HSR was phylogenetically derived from a single band HSR by a paracentric inversion. In homozygous condition, such HSRs contribute, albeit not as much as expected from their mitotic length, to the synaptonemal complex (SC) length of chromosome 1. In HSR heterozygous animals an elongation of the SCs was not noticeable. In single band HSR heterozygous males, synapsis proceeds regularly and continuously from the distal telomere towards the centromeric end without forming buckles. Thus, the single band HSR has no adverse effect on pairing. The same straight pairing behaviour was found in the majority of double band HSR heterozygous spermatocytes. This shows that extensive nonhomologous pairing can take place in the earliest phase of synapsis. Synapsis was discontinuous, leaving the central part of the bivalent 1 asynapsed, in only 14.3% of double band HSR heterozygous cells. In such cells the chromosome 1 SC is completed at a later stage of meiosis. The delay is presumably an effect of the inversion that includes one HSR band and the segment between the two HSR bands.

  11. Hybrid Sterility Locus on Chromosome X Controls Meiotic Recombination Rate in Mouse.

    Science.gov (United States)

    Balcova, Maria; Faltusova, Barbora; Gergelits, Vaclav; Bhattacharyya, Tanmoy; Mihola, Ondrej; Trachtulec, Zdenek; Knopf, Corinna; Fotopulosova, Vladana; Chvatalova, Irena; Gregorova, Sona; Forejt, Jiri

    2016-04-01

    Meiotic recombination safeguards proper segregation of homologous chromosomes into gametes, affects genetic variation within species, and contributes to meiotic chromosome recognition, pairing and synapsis. The Prdm9 gene has a dual role, it controls meiotic recombination by determining the genomic position of crossover hotspots and, in infertile hybrids of house mouse subspecies Mus m. musculus (Mmm) and Mus m. domesticus (Mmd), it further functions as the major hybrid sterility gene. In the latter role Prdm9 interacts with the hybrid sterility X 2 (Hstx2) genomic locus on Chromosome X (Chr X) by a still unknown mechanism. Here we investigated the meiotic recombination rate at the genome-wide level and its possible relation to hybrid sterility. Using immunofluorescence microscopy we quantified the foci of MLH1 DNA mismatch repair protein, the cytological counterparts of reciprocal crossovers, in a panel of inter-subspecific chromosome substitution strains. Two autosomes, Chr 7 and Chr 11, significantly modified the meiotic recombination rate, yet the strongest modifier, designated meiotic recombination 1, Meir1, emerged in the 4.7 Mb Hstx2 genomic locus on Chr X. The male-limited transgressive effect of Meir1 on recombination rate parallels the male-limited transgressive role of Hstx2 in hybrid male sterility. Thus, both genetic factors, the Prdm9 gene and the Hstx2/Meir1 genomic locus, indicate a link between meiotic recombination and hybrid sterility. A strong female-specific modifier of meiotic recombination rate with the effect opposite to Meir1 was localized on Chr X, distally to Meir1. Mapping Meir1 to a narrow candidate interval on Chr X is an important first step towards positional cloning of the respective gene(s) responsible for variation in the global recombination rate between closely related mouse subspecies.

  12. Factors associated with infection following open distal radius fractures.

    Science.gov (United States)

    Glueck, Dane A; Charoglu, Constantine P; Lawton, Jeffrey N

    2009-09-01

    Open fractures are often classified according to a system described by Gustilo and Anderson. However, this system was applied to open long bone fractures, which may not predict the incidence of infection in open metaphyseal fractures of the upper extremity. Other studies have found that wound contamination and systemic illness were the best predictors of infections in open hand fractures. Our study assessed infection in open distal radius fractures and identifies factors that are associated with these infections. We hypothesize that contamination, rather than absolute wound size, is the best predictor of infection associated with open distal radius fractures. A review by CPT code yielded 42 patients with open distal radius fractures between 1997 and 2002 treated at a level one trauma center. Medical records and radiographic follow-up were reviewed to assess the time to irrigation and debridement, the number of debridements in initial treatment period, the method of operative stabilization, the Gustilo and Anderson type of fracture, the Swanson type of fracture, and description of wound contamination. Forty-two patients were followed up for an average of 15 months (range 4 to 68 months). Twenty-four fractures were classified as Gustilo and Anderson type I, ten were type II, and eight were type III, 30 were Swanson type I, and 12 were Swanson type II. Five of the 42 fractures were considered contaminated. Two were exposed to fecal contamination. The others were contaminated with tar, dirt/grass, and gravel, respectively. Three of 42 (7%) fractures developed infections. All three infected cases received a single irrigation and debridement. Two of five contaminated fractures (40%) developed a polymicrobial infection. Both were exposed to fecal contamination and, therefore, considered Swanson type II fractures. They were classified as Gustilo and Anderson type II and IIIB based solely upon the size of the wound. Both required multiple debridements and eventually wrist

  13. Left ventricular contractile function after distal protection in primary percutaneous coronary intervention Results from the Drug Elution and Distal Protection in ST-Elevation Myocardial Infarction trial

    DEFF Research Database (Denmark)

    Kofoed, K F; Kelbæk, H; Thuesen, L

    2011-01-01

    Coronary intervention (PCI) may result in an increased infarct size. We evaluated the effect of distal protection during PCI for ST-segment elevation myocardial infarction (STEMI) on myocardial function.......Coronary intervention (PCI) may result in an increased infarct size. We evaluated the effect of distal protection during PCI for ST-segment elevation myocardial infarction (STEMI) on myocardial function....

  14. Outcomes of Distal Femur Fracture Treated with Dynamic Condylar Screw

    International Nuclear Information System (INIS)

    Razaq, M. N. U.; Muhammad, T.; Ahmed, A.; Adeel, M.; Ahmad, S.; Ahmad, S.; Sultan, S.

    2016-01-01

    Background: Implants for open reduction and internal fixation of distal femoral fracture includes angle blade plate, rush nails, enders nail and interlocking nails. But all these devices are technically demanding and less effective in providing inter-fragmentary compression in osteoporotic bones. These problems can be solved with dynamic condylar screw (DCS).The objective of the study was to determine the frequency of different outcomes of distal femoral fracture treated with dynamic condylar screw Methods: This case series study was carried out in the Department of Trauma and Orthopaedics, Ayub Teaching Hospital Abbottabad from 1st October 2014 to August 2015, after approval of the ethical committee of the institution. Data of all patients with distal femoral fractures aged 20-70 years, recruited through emergency, OPD or consultant clinic collected on a proforma. Standard treatment of trauma was given to the patients. Detailed history was taken including the past medical and surgical history. Detailed examination including air-way, breathing and circulation, general physical examination and abdomino-pelvic examination was done in each patient. Investigations including urinalysis, haemoglobin percent, full blood count, X-ray (both AP and lateral view) of the involved femur (including hip and knee) was done. Results: Mean age of the patients was 43.18±14.647 ranging from 20 to 70 years. Mean duration of hospital stay in days was 2.21±1.111 ranging from 1 to 6 days. Patients follow-up assessment after 4 months of surgery for union of femoral fracture treated with dynamic condylar screw was found in 96 (94.1 percent), wound infection was found in 7 (6.9 percent), knee stiffness was found in 21 (20.6 percent) and limb shortening was found in 7 (6.9 percent). Conclusion: Dynamic condylar screw is an easy, scientifically less difficult and satisfying method of treatment for fractures of femur. (author)

  15. [Lithiasis of the distal ureter: ESWL or URS].

    Science.gov (United States)

    González Enguita, C; Sánchez Gómez, J; Rodríguez-Miñon Cifuentes, J L; Cabrera Pérez, J; Calahorra Fernández, F J; García Cardoso, J; García de la Peña, E; Vela Navarrete, R

    1998-10-01

    A nephritic colic is the clinical picture that evidences the presence of ureteral stones, the natural evolution being their spontaneous passing. Stones in the distal ureter are self-eliminated in about 71-80% cases. The adoption of a "watchful wait" involves an uncertain occupational and medical evolution since, although in some cases the stones will pass with no problems, in other instances they can result in severe, life threatening situations for the patient's health (intractable pain, anuria or sepsis). When a decision is made to treat the condition, there are two choices available: "in situ" SWEL (extracorporeal lithotrity), or URS (ureterorenoscopy), long-standing conflicting techniques each with its own advantages and disadvantages, which should now be considered complementary. SWEL's major disadvantage is the number of repetitions required and the long wait, sometimes even months, until the last fragment is passed. The greater strength of URS is that it can be resolutive in just one episode (95% cases), thus avoiding the obstruction problems that can arise after SWEL. In the Lithiasis-Lithotrity Unit of FJD, SWEL is the first therapeutical option for the treatment of stones in the distal ureter. SWEL and URS are equally likely to be performed although SWEL is the initial choice for efficiency reasons that are explained. We achieve 93.6% positive results with a 1.82% re-SWEL rate (retreatment), 0.60 coefficient of efficiency (EQ) and 0.69 modified coefficient of efficiency (EQM) (Chart). No serious complications were recorded. Morbidity is variable with little clinical significance. Distal ureter lithiasis can be treated with either URS and SWEL, both considered "different and complementary". The choice in each particular case and within each hospital will depend on availability of means to perform one or the other, equipment's efficiency, skill of the urologist, patient's preference and cost of each treatment.

  16. Clinicopathologic characteristics and prognosis of proximal and distal gastric cancer

    Directory of Open Access Journals (Sweden)

    Yu X

    2018-02-01

    Full Text Available Xuefeng Yu,1,* Fulan Hu,2,* Chunfeng Li,1 Qiang Yao,1 Hongfeng Zhang,1 Yingwei Xue1 1Department of Gastrointestinal Surgery, Harbin Medical University Cancer Hospital, Harbin Medical University, Harbin, China; 2Department of Epidemiology, Public Health College, Harbin Medical University, Harbin, China *These authors contributed equally to this work Background and objectives: The dismal prognosis of gastric cancer patients is a global problem. We aim to evaluate the clinicopathologic features and prognostic factors of proximal and distal gastric cancer.Materials and methods: Gastric cancer cases diagnosed and treated at the same surgical unit between 2007 and 2010 were reviewed. Follow-up data from all patients were collected for at least 5 years until 2015. A total of 964 patients were studied (distal gastric cancer [DG], n=777 and proximal gastric cancer [PG], n=187.Results: DG patients had a relatively higher percentage of females, more thorough therapy (R0 [D0/D1/D2], fewer combined organ resections, younger age, smaller tumors (<5 cm, shorter surgery durations, less blood loss during surgery, and a relatively lower percentage of nodal metastases and a TNM stage of 4 (p<0.05. A significantly higher 5-year survival rate was observed in DG patients compared to PG patients (DG: 51%, PG: 28%; p<0.001. A multivariate analysis demonstrated that tumor size, blood loss during surgery, surgery approach of lymph node dissection, treatment with palliative surgery, histopathologic type, TNM stage, and tumor location were independent predictors of poor outcome.Conclusion: The different characteristics and prognosis of DG and PG cases have implications for the development of guiding strategies for a surgical program and assessment of prognosis of gastric cancer patients based on tumor location. Keywords: gastric cancer, tumor location, clinicopathologic features, prognosis, distal gastric cancer, proximal gastric cancer 

  17. Outcome Assessment after Aptis Distal Radioulnar Joint (DRUJ Implant Arthroplasty

    Directory of Open Access Journals (Sweden)

    Amir Reza Kachooei

    2014-09-01

    Full Text Available Background:  Conventional treatments after complicated injuries of the distal radioulnar joint (DRUJ such as Darrach and Kapandji-Sauvé procedures have many drawbacks, which may eventually lead to a painful unstable distal ulna.  The development of DRUJ prosthesis has significantly evolved over the past years. In this study, we assessed the outcome results of patients after DRUJ implant arthroplasty using the Aptis (Scheker prosthesis. Methods: We identified 13 patients with 14 prosthesis during the past 10 years. Patients underwent DRUJ arthroplasty due to persistent symptoms of instability, chronic pain, and stiffness. Records and follow-up visits were reviewed to find the final post-operative symptoms, pain, range of motion, and grip strength with a mean follow-up of 12 months (range: 2-25 months. Also, patients were contacted prospectively by phone in order to  minister the disabilities of the armshoulder and hand (DASH, patient rated wrist evaluation (PRWE, and visual analogue scale (VAS, and to interview regarding satisfaction and progress in daily activities. Eleven patients out of 13 could be reached with a median followup time of 60 months (range: 2 to 102 months.  Results: No patient required removal of the prosthesis. Only two patients underwent secondary surgeries in which both required debridement of the screw tip over the radius. The median DASH score, PRWE score, VAS, and satisfaction were 1.3, 2.5, 0, and 10, respectively. The mean range of flexion, extension, supination, and pronation was 62, 54, 51, and 64, respectively. Conclusions: Distal radioulnar joint injuries are disabling and patients usually undergo one or more salvage surgeries prior to receiving an arthroplasty. The Scheker prosthesis has shown satisfactory results with 100% survival rate in all reports. The constrained design of this prosthesis gives enough stability to prevent painful subluxation.

  18. Medical expulsive treatment of distal ureteral stone using tamsulosin

    International Nuclear Information System (INIS)

    Ahmad, H.; Azim, W.; Akmal, M.; Murtaza, B.

    2015-01-01

    Many minimally invasive interventional techniques as well as expectant treatments exist for the management of lower ureteric calculi. This study was conducted to evaluate the efficacy of tamsulosin as an expulsive pharmacologic therapy for the treatment of distal ureteral stone. Methods: This randomized control trial included 100 patients over 18 years of age with stone Size = 8mm in distal 1/3 of ureter. Patients were randomly assigned into two groups (A and B). Group A Patients were given Capsule Tamsulosin 0.4 mg, 1 daily up to 4 weeks while group B patients were given placebo, 1 Capsule daily up to 4 weeks. The primary endpoint was expulsion rate. A written informed consent was taken from all the patients. Expulsion time, need for analgesics, need for hospitalization and drug side effects were secondary endpoints. Results: A total of 49 patients in group A and 48 patients in group B reported back, therefore 97 out of 100 patients were evaluated. Mean age of the patients was 36.34 years (range 18-57 years). Mean stone size was 5.78 mm (range 4-8 mm) in greatest dimension. A stone expulsion rate of 85.71% (42 patients) was noted in group A and 54.20% (26 patients) in group B. Group A revealed a statistically significant advantage in term of stone expulsion rate (p=0.032). Considering expulsion time in days group A showed statistically significant advantage (p=0.015). Regarding age, sex, stone size and stone lateralization (right/left), there was no significant difference between the group A and B. No drug side effects were noted in both the groups. Conclusion: By using tamsulosin a higher stone expulsion rates can be achieved in a shorter time. More randomized control trials are required to establish tamsulosin as a standard medical expulsive treatment for small distal ureteric calculus. (author)

  19. Analysis of emboli during carotid stenting with distal protection device.

    Science.gov (United States)

    Chen, Chin-I; Iguchi, Yasuyuki; Garami, Zsolt; Malkoff, Marc D; Smalling, Richard W; Campbell, Morgan S; Alexandrov, Andrei V

    2006-01-01

    The newly developed multi-frequency transcranial Doppler (TCD) is able to differentiate gaseous from solid emboli. Our goal was to apply this technology to initially characterize emboli detected during carotid stenting with distal protection. Patients undergoing carotid angiography and stenting were monitored with 2-2.5 MHz TCD (Embo-Dop, DWL) over the middle cerebral artery unilateral to stent deployment. Sonographers insured optimal signal recordings during the procedures. Automated emboli detection and classification software (MultiXLab version 2.0) was applied for offline count and analysis. Monitoring using the Filter Wire EX (Boston Scientific) and ACCUNET system (Guidant Corporation) was performed. A total of 9,649 embolic signals were detected during 11 angiographic and 10 stenting procedures. An observer confirmed the signals using the International Consensus definition. Automated software classified these events into 5,900 gaseous and 3,749 solid emboli. During contrast injections without the protection device, 1,013 emboli were detected with 28% of these being solid. With deployment of the distal protection device, 8,636 emboli were found with 40% being solid (p protection device, 7,395 emboli with 42% solids were detected (p protection device still deployed, yielded 1,241 emboli with 31% solids (NS). Only 1 patient developed transient hemiparesthesia during ballooning that reduced the flow velocity to zero for 14 s. Neither gaseous nor solid emboli resulted in a mean flow velocity decrease or clinical symptoms. Microembolization frequently occurs during stenting even with deployment of the distal protection device. More solid emboli are seen during manipulations associated with lesion crossing. Although novel TCD methods yield a high frequency of embolic signals, further validation of this technique to determine the true nature, size, and number of emboli is needed.

  20. Prevention of distal extension cantilever fracture in mandibular overdentures.

    Science.gov (United States)

    Quirynen, Thomas; Quirynen, Marc; Duyck, Joke

    2015-09-01

    Fractures of distal bar extensions, supporting a mandibular overdenture, do occur with significant functional and economic consequences for the patient. This study therefore aims to evaluate the effect of different bar cross-sectional shapes and surfaces, bar extension lengths and the placement of a support rib under the distal bar extension on fracture resistance. The 2nd moment area and static strength were calculated for 11 frequently used bar designs using finite element analysis (FEA). For two specific designs (Ackermann round Ø 1.8mm and Dolder-Y macro, the former with and without a support rib) additional physical static and fatigue strength tests were included. The FEA static strength data corresponded well to the 2nd moment area (a similar ranking when maximum allowed force was considered). The application of a rib support (Ackermann Ø 1.8mm) and limitations of the bar extension length (6mm for the Ackermann Ø 1.8mm, 8mm for the Dolder-Y macro) allowed the bars to exceed 5 × 10(6) cycles of 120 and 250N, respectively, before fracture. The region of highest stresses in FEA corresponded well with the locations of the fractures observed in static- and fatigue-testing. With some simple guidelines/modifications, the number of bar extension fractures can be reduced significantly. This study focusses on distal bar extensions which improve the positioning of an implant supported overdenture. By combining laboratory testing and finite element simulations we aim to: (1) explain why fractures occur (dependent on physical characteristics of the bar), and (2) give clinical guidelines on how to prevent such fractures. Copyright © 2015 Elsevier Ltd. All rights reserved.

  1. Fractal analysis of bone architecture at distal radius

    International Nuclear Information System (INIS)

    Tomomitsu, Tatsushi; Mimura, Hiroaki; Murase, Kenya; Sone, Teruki; Fukunaga, Masao

    2005-01-01

    Bone strength depends on bone quality (architecture, turnover, damage accumulation, and mineralization) as well as bone mass. In this study, human bone architecture was analyzed using fractal image analysis, and the clinical relevance of this method was evaluated. The subjects were 12 healthy female controls and 16 female patients suspected of having osteoporosis (age range, 22-70 years; mean age, 49.1 years). High-resolution CT images of the distal radius were acquired and analyzed using a peripheral quantitative computed tomography (pQCT) system. On the same day, bone mineral densities of the lumbar spine (L-BMD), proximal femur (F-BMD), and distal radius (R-BMD) were measured by dual-energy X-ray absorptiometry (DXA). We examined the correlation between the fractal dimension and six bone mass indices. Subjects diagnosed with osteopenia or osteoporosis were divided into two groups (with and without vertebral fracture), and we compared measured values between these two groups. The fractal dimension correlated most closely with L-BMD (r=0.744). The coefficient of correlation between the fractal dimension and L-BMD was very similar to the coefficient of correlation between L-BMD and F-BMD (r=0.783) and the coefficient of correlation between L-BMD and R-BMD (r=0.742). The fractal dimension was the only measured value that differed significantly between both the osteopenic and the osteoporotic subjects with and without vertebral fracture. The present results suggest that the fractal dimension of the distal radius can be reliably used as a bone strength index that reflects bone architecture as well as bone mass. (author)

  2. Lesiones de la sindesmosis tibioperonea distal: Review article

    OpenAIRE

    Álvarez López, Alejandro; Rodríguez Rodríguez, Eugenio; García Lorenzo, Yenima; Muñoz Infante, Arnaldo

    2008-01-01

    Se realizó una revisión bibliográfica sobre las lesiones traumáticas de la articulación tibioperonea distal. Se recuerda y actualiza sobre aspectos como: anatomía, mecanismo de producción y cuadro clínico. Reciben especial énfasis los estudios imagenológicos y se subraya el uso e interpretación de la radiografía simple. Para terminar esta revisión se exponen las variantes de tratamiento tanto para las lesiones ligamentosas aisladas o asociadas a fractura del tobillo y su manejo posoperatorio....

  3. Paediatric post-traumatic cortical defects of the distal radius

    International Nuclear Information System (INIS)

    Roach, Richard T.; Summers, Bruce N.; Cassar-Pullicino, Victor

    2002-01-01

    Paediatric post-traumatic cortical defects, although rare, are predominately seen affecting the distal radius following a greenstick or torus fracture. We review the literature and present a further two cases supported by CT and MRI. Images from an acute greenstick fracture are also presented to help understand the pathogenesis. Defects are typically solitary on plain radiographs and are usually noticed late, proximal to the site of compression. They are non-expansile in an otherwise healthy child. CT and MRI may reveal smaller multiple subperiosteal defects. Typical defects require no further management other than reassurance and advice that they may occasionally cause discomfort but resolve with time. (orig.)

  4. Proximal and distal adjustments of reaching behavior in preterm infants.

    Science.gov (United States)

    de Toledo, Aline Martins; Soares, Daniele de Almeida; Tudella, Eloisa

    2011-01-01

    The authors aimed to investigate proximal and distal adjustments of reaching behavior and grasping in 5-, 6-, and 7-month-old preterm infants. Nine low-risk preterm and 10 full-term infants participated. Both groups showed the predominance of unimanual reaching, an age-related increase in the frequency of vertical-oriented and open hand movement, and also an increase in successful grasping from 6 to 7 months. The frequency of open hand was higher in the preterm group at 6 months. Intrinsic restrictions imposed by prematurity did not seem to have impaired reaching performance of preterm infants throughout the months of age.

  5. Perimenopausal risk of falling and incidence of distal forearm fracture.

    OpenAIRE

    Winner, S. J.; Morgan, C. A.; Evans, J. G.

    1989-01-01

    A postal survey of 2000 women and 2000 men sampled from the electoral roll in Oxford was undertaken to ascertain whether changes with age in the risk of falling might explain the stepwise increases in age specific incidence rates of distal forearm fracture which occur in women at around the age of 50. Corrected response rates were 83% for women and 72% for men. In women, but not in men, there was a rise in the risk of falling from 45 years, peaking in the 55-59 year age group, and sinking to ...

  6. Giant cells tumor of radius distal end and bone reconstruction

    International Nuclear Information System (INIS)

    La O Duran, Eldis; Monzon Fernandez, Abel Nicolas; Sanz Delgado, Licett

    2009-01-01

    This is the case of a black women aged 40 presenting with a tumor of distal end of right radium with histological diagnosis of low-grade malignancy giant cells tumor and proposal of limb amputation. A conservative surgery was performed with a two-steps total exeresis of lesion sparing the oncologic margin. A fibular free-graft was used and wrist arthrodesis and internal fixation of graft using AO system. There was a good graft consolidation and an active incorporation of patient to social activities. The diagnosis, treatment, follow-up, rehabilitation and case prognosis are exposed

  7. Sequencing of individual chromosomes of plant pathogenic Fusarium oxysporum.

    Science.gov (United States)

    Kashiwa, Takeshi; Kozaki, Toshinori; Ishii, Kazuo; Turgeon, B Gillian; Teraoka, Tohru; Komatsu, Ken; Arie, Tsutomu

    2017-01-01

    A small chromosome in reference isolate 4287 of F. oxysporum f. sp. lycopersici (Fol) has been designated as a 'pathogenicity chromosome' because it carries several pathogenicity related genes such as the Secreted In Xylem (SIX) genes. Sequence assembly of small chromosomes in other isolates, based on a reference genome template, is difficult because of karyotype variation among isolates and a high number of sequences associated with transposable elements. These factors often result in misassembly of sequences, making it unclear whether other isolates possess the same pathogenicity chromosome harboring SIX genes as in the reference isolate. To overcome this difficulty, single chromosome sequencing after Contour-clamped Homogeneous Electric Field (CHEF) separation of chromosomes was performed, followed by de novo assembly of sequences. The assembled sequences of individual chromosomes were consistent with results of probing gels of CHEF separated chromosomes with SIX genes. Individual chromosome sequencing revealed that several SIX genes are located on a single small chromosome in two pathogenic forms of F. oxysporum, beyond the reference isolate 4287, and in the cabbage yellows fungus F. oxysporum f. sp. conglutinans. The particular combination of SIX genes on each small chromosome varied. Moreover, not all SIX genes were found on small chromosomes; depending on the isolate, some were on big chromosomes. This suggests that recombination of chromosomes and/or translocation of SIX genes may occur frequently. Our method improves sequence comparison of small chromosomes among isolates. Copyright © 2016 Elsevier Inc. All rights reserved.

  8. Genetic integrity of the human Y chromosome exposed to groundwater arsenic

    Directory of Open Access Journals (Sweden)

    Ali Sher

    2010-08-01

    Full Text Available Abstract Background Arsenic is a known human carcinogen reported to cause chromosomal deletions and genetic anomalies in cultured cells. The vast human population inhabiting the Ganges delta in West Bengal, India and Bangladesh is exposed to critical levels of arsenic present in the groundwater. The genetic and physiological mechanism of arsenic toxicity in the human body is yet to be fully established. In addition, lack of animal models has made work on this line even more challenging. Methods Human male blood samples were collected with their informed consent from 5 districts in West Bengal having groundwater arsenic level more than 50 μg/L. Isolation of genomic DNA and preparation of metaphase chromosomes was done using standard protocols. End point PCR was performed for established sequence tagged sites to ascertain the status of recombination events. Single nucleotide variants of candidate genes and amplicons were carried out using appropriate restriction enzymes. The copy number of DYZ1 array per haploid genome was calculated using real time PCR and its chromosomal localization was done by fluorescence in-situ hybridization (FISH. Results We studied effects of arsenic exposure on the human Y chromosome in males from different areas of West Bengal focusing on known recombination events (P5-P1 proximal; P5-P1 distal; gr/gr; TSPY-TSPY, b1/b3 and b2/b3, single nucleotide variants (SNVs of a few candidate Y-linked genes (DAZ, TTY4, BPY2, GOLGA2LY and the amplicons of AZFc region. Also, possible chromosomal reorganization of DYZ1 repeat arrays was analyzed. Barring a few microdeletions, no major changes were detected in blood DNA samples. SNV analysis showed a difference in some alleles. Similarly, DYZ1 arrays signals detected by FISH were found to be affected in some males. Conclusions Our Y chromosome analysis suggests that the same is protected from the effects of arsenic by some unknown mechanisms maintaining its structural and functional

  9. Molecular mapping of chromosomes 17 and X

    Energy Technology Data Exchange (ETDEWEB)

    Barker, D.F.

    1991-01-15

    Progress toward the construction of high density genetic maps of chromosomes 17 and X has been made by isolating and characterizing a relatively large set of polymorphic probes for each chromosome and using these probes to construct genetic maps. We have mapped the same polymorphic probes against a series of chromosome breakpoints on X and 17. The probes could be assigned to over 30 physical intervals on the X chromosome and 7 intervals on 17. In many cases, this process resulted in improved characterization of the relative locations of the breakpoints with respect to each other and the definition of new physical intervals. The strategy for isolation of the polymorphic clones utilized chromosome specific libraries of 1--15 kb segments from each of the two chromosomes. From these libraries, clones were screened for those detecting restriction fragment length polymorphisms. The markers were further characterized, the chromosomal assignments confirmed and in most cases segments of the original probes were subcloned into plasmids to produce probes with improved signal to noise ratios for use in the genetic marker studies. The linkage studies utilize the CEPH reference families and other well-characterized families in our collection which have been used for genetic disease linkage work. Preliminary maps and maps of portions of specific regions of 17 and X are provided. We have nearly completed a map of the 1 megabase Mycoplasma arthritidis genome by applying these techniques to a lambda phage library of its genome. We have found bit mapping to be an efficient means to organize a contiguous set of overlapping clones from a larger genome.

  10. Chromosomal organization of adrenergic receptor genes

    International Nuclear Information System (INIS)

    Yang-Feng, T.L.; Xue, Feiyu; Zhong, Wuwei; Cotecchia, S.; Frielle, T.; Caron, M.G.; Lefkowitz, R.J.; Francke, U.

    1990-01-01

    The adrenergic receptors (ARs) (subtypes α 1 , α 2 , β 1 , and β 2 ) are a prototypic family of guanine nucleotide binding regulatory protein-coupled receptors that mediate the physiological effects of the hormone epinephrine and the neurotransmitter norepinephrine. The authors have previously assigned the genes for β 2 -and α 2 -AR to human chromosomes 5 and 10, respectively. By Southern analysis of somatic cell hybrids and in situ chromosomal hybridization, they have now mapped the α 1 -AR gene to chromosome 5q32→q34, the same position as β 2 -AR, and the β 1 -AR gene to chromosome 10q24→q26, the region where α 2 -AR, is located. In mouse, both α 2 -and β 1 -AR genes were assigned to chromosome 19, and the α 1 -AR locus was localized to chromosome 11. Pulsed field gel electrophoresis has shown that the α 1 -and β 2 -AR genes in humans are within 300 kilobases (kb) and the distance between the α 2 - and β 1 -AR genes is <225 kb. The proximity of these two pairs of AR genes and the sequence similarity that exists among all the ARs strongly suggest that they are evolutionarily related. Moreover, they likely arose from a common ancestral receptor gene and subsequently diverged through gene duplication and chromosomal duplication to perform their distinctive roles in mediation the physiological effects of catecholamines. The AR genes thus provide a paradigm for understanding the evolution of such structurally conserved yet functionally divergent families off receptor molecules

  11. Klinefelter syndrome and other sex chromosomal aneuploidies

    Directory of Open Access Journals (Sweden)

    Graham John M

    2006-10-01

    Full Text Available Abstract The term Klinefelter syndrome (KS describes a group of chromosomal disorder in which there is at least one extra X chromosome to a normal male karyotype, 46,XY. XXY aneuploidy is the most common disorder of sex chromosomes in humans, with prevalence of one in 500 males. Other sex chromosomal aneuploidies have also been described, although they are much less frequent, with 48,XXYY and 48,XXXY being present in 1 per 17,000 to 1 per 50,000 male births. The incidence of 49,XXXXY is 1 per 85,000 to 100,000 male births. In addition, 46,XX males also exist and it is caused by translocation of Y material including sex determining region (SRY to the X chromosome during paternal meiosis. Formal cytogenetic analysis is necessary to make a definite diagnosis, and more obvious differences in physical features tend to be associated with increasing numbers of sex chromosomes. If the diagnosis is not made prenatally, 47,XXY males may present with a variety of subtle clinical signs that are age-related. In infancy, males with 47,XXY may have chromosomal evaluations done for hypospadias, small phallus or cryptorchidism, developmental delay. The school-aged child may present with language delay, learning disabilities, or behavioral problems. The older child or adolescent may be discovered during an endocrine evaluation for delayed or incomplete pubertal development with eunuchoid body habitus, gynecomastia, and small testes. Adults are often evaluated for infertility or breast malignancy. Androgen replacement therapy should begin at puberty, around age 12 years, in increasing dosage sufficient to maintain age appropriate serum concentrations of testosterone, estradiol, follicle stimulating hormone (FSH, and luteinizing hormone (LH. The effects on physical and cognitive development increase with the number of extra Xs, and each extra X is associated with an intelligence quotient (IQ decrease of approximately 15–16 points, with language most affected

  12. Additional chromosome abnormalities in chronic myeloid leukemia

    Directory of Open Access Journals (Sweden)

    Hui-Hua Hsiao

    2011-02-01

    Full Text Available The Philadelphia (Ph chromosome and/or Breakpoint cluster region-Abelson leukemia virus oncogene transcript are unique markers for chronic myeloid leukemia (CML. However, CML demonstrates heterogeneous presentations and outcomes. We analyzed the cytogenetic and molecular results of CML patients to evaluate their correlation with clinical presentations and outcome. A total of 84 newly diagnosed CML patients were enrolled in the study. Patients were treated according to disease status. Bone marrow samples were obtained to perform cytogenetic and molecular studies. Clinical presentations, treatment courses, and survival were reviewed retrospectively. Among 84 patients, 72 had chronic phase and 12 had accelerated phase CML. Cytogenetic study showed 69 (82.1% with the classic Ph chromosome, 6 (7.2% with a variant Ph chromosome, and 9 (10.7% with additional chromosome abnormalities. Fifty-four (64.3% cases harbored b3a2 transcripts, 29 (34.5% had b2a2 transcript, and 1 had e19a2 transcript. There was no difference in clinical presentations between different cytogenetic and molecular groups; however, additional chromosome abnormalities were significantly associated with the accelerated phase. Imatinib therapy was an effective treatment, as measured by cytogenetic response, when administered as first- and second-line therapy in chronic phase patients. Survival analysis showed that old age, additional chromosome abnormalities, high Sokal score, and no cytogenetic response in second-line therapy had a significant poor impact (p<0.05. In conclusion, we presented the cytogenetic and molecular pattern of CML patients and demonstrated that the additional chromosome abnormality was associated with poor outcome.

  13. JC Virus T-Antigen in Colorectal Cancer Is Associated with p53 Expression and Chromosomal Instability, Independent of CpG Island Methylator Phenotype

    Directory of Open Access Journals (Sweden)

    Katsuhiko Nosho

    2009-01-01

    Full Text Available JC virus has a transforming gene encoding JC virus T-antigen (JCVT. JCVT may inactivate wild-type p53, cause chromosomal instability (CIN, and stabilize β-catenin. A link between JCVT and CpG island methylator phenotype (CIMP has been suggested. However, no large-scale study has examined the relations of JCVT with molecular alterations, clinical outcome, or prognosis in colon cancer. We detected JCVT expression (by immunohistochemistry in 271 (35% of 766 colorectal cancers. We quantified DNA methylation in eight CIMP-specific promoters (CACNA1G, CDKN2A, CRABP1, IGF2, MLH1, NEUROG1, RUNX3, and SOCS1 and eight other loci (CHFR, HIC1, IGFBP3, MGMT, MINT1, MINT31, p14, WRN by MethyLight. We examined loss of heterozygosity in 2p, 5q, 17q, and 18q. JCVT was significantly associated with p53 expression (P < .0001, p21 loss (P < .0001, CIN (≥2 chromosomal segments with LOH; P < .0001, nuclear β-catenin (P = .006, LINE-1 hypomethylation (P = .002, and inversely with CIMP-high (P = .0005 and microsatellite instability (MSI (P < .0001, but not with PIK3CA mutation. In multivariate logistic regression analysis, the associations of JCVT with p53 [adjusted odds ratio (OR, 8.45; P < .0001], CIN (adjusted OR, 2.53; P = .003, cyclin D1 (adjusted OR, 1.57; P = .02, LINE-1 hypomethylation (adjusted OR, 1.97 for a 30% decline as a unit; P = .03, BRAF mutation (adjusted OR, 2.20; P = .04, and family history of colorectal cancer (adjusted OR, 0.64; P = .04 remained statistically significant. However, JCVT was no longer significantly associated with CIMP, MSI, β-catenin, or cyclooxygenase-2 expression in multivariate analysis. JCVT was unrelated with patient survival. In conclusion, JCVT expression in colorectal cancer is independently associated with p53 expression and CIN, which may lead to uncontrolled cell proliferation.

  14. Cost-effectiveness of laparoscopic versus open distal pancreatectomy for pancreatic cancer.

    Science.gov (United States)

    Gurusamy, Kurinchi Selvan; Riviere, Deniece; van Laarhoven, C J H; Besselink, Marc; Abu-Hilal, Mohammed; Davidson, Brian R; Morris, Steve

    2017-01-01

    A recent Cochrane review compared laparoscopic versus open distal pancreatectomy for people with for cancers of the body and tail of the pancreas and found that laparoscopic distal pancreatectomy may reduce the length of hospital stay. We compared the cost-effectiveness of laparoscopic distal pancreatectomy versus open distal pancreatectomy for pancreatic cancer. Model based cost-utility analysis estimating mean costs and quality-adjusted life years (QALYs) per patient from the perspective of the UK National Health Service. A decision tree model was constructed using probabilities, outcomes and cost data from published sources. A time horizon of 5 years was used. One-way and probabilistic sensitivity analyses were undertaken. The probabilistic sensitivity analysis showed that the incremental net monetary benefit was positive (£3,708.58 (95% confidence intervals (CI) -£9,473.62 to £16,115.69) but the 95% CI includes zero, indicating that there is significant uncertainty about the cost-effectiveness of laparoscopic distal pancreatectomy versus open distal pancreatectomy. The probability laparoscopic distal pancreatectomy was cost-effective compared to open distal pancreatectomy for pancreatic cancer was between 70% and 80% at the willingness-to-pay thresholds generally used in England (£20,000 to £30,000 per QALY gained). Results were sensitive to the survival proportions and the operating time. There is considerable uncertainty about whether laparoscopic distal pancreatectomy is cost-effective compared to open distal pancreatectomy for pancreatic cancer in the NHS setting.

  15. Microdissection and chromosome painting of the alien chromosome in an addition line of wheat--Thinopyrum intermedium.

    Science.gov (United States)

    Deng, Chuanliang; Bai, Lili; Fu, Shulan; Yin, Weibo; Zhang, Yingxin; Chen, Yuhong; Wang, Richard R-C; Zhang, Xiangqi; Han, Fangpu; Hu, Zanmin

    2013-01-01

    In this study, chromosome painting was developed and used to identify alien chromosomes in TAi-27, a wheat--Thinopyrum intermedium addition line, and the chromosomes of the three different genomes of Th. Intermedium. The smallest alien chromosome of TAi-27 was microdissected and its DNA amplified by DOP-PCR was used as a probe to hybridize with metaphase chromosomes of TAi-27 and Th. intermedium. Results showed that hybridization signals were observed in all regions of a pair of the smallest alien chromosomes and the pericentromeric area of another pair of alien chromosomes in TAi-27, indicating that the probe from microdissected chromosome is species specific. In Th. intermedium, 14 chromosomes had wide and strong hybridization signals distributed mainly on the pericentromere area and 9 chromosomes with narrow and weak signals on the pericentromere area. The remaining chromosomes displayed a very weak or no signal. Sequential FISH/GISH on Th. intermedium chromosomes using the DNAs of microdissected chromosome, Pseudoroegneria spicata (St genome) and pDbH12 (a J(s) genome specific probe) as the probes indicated that the microdissected chromosome belonged to the St genome, three genomes (J(s) , J and St) in Th. intermedium could be distinguished, in which there is no hybridization signal on J genome that is similar to the genome of Th. bessarabicum. Our results showed that the smallest alien chromosomes may represent a truncated chromosome and the repetitive sequence distribution might be similar in different chromosomes within the St genome. However, the repetitive sequence distributions are different within the J(s) genome, within a single chromosome, and among different genomes in Th. intermedium. Our results suggested that chromosome painting could be feasible in some plants and useful in detecting chromosome variation and repetitive sequence distribution in different genomes of polyploidy plants, which is helpful for understanding the evolution of different

  16. Microdissection and chromosome painting of the alien chromosome in an addition line of wheat--Thinopyrum intermedium.

    Directory of Open Access Journals (Sweden)

    Chuanliang Deng

    Full Text Available In this study, chromosome painting was developed and used to identify alien chromosomes in TAi-27, a wheat--Thinopyrum intermedium addition line, and the chromosomes of the three different genomes of Th. Intermedium. The smallest alien chromosome of TAi-27 was microdissected and its DNA amplified by DOP-PCR was used as a probe to hybridize with metaphase chromosomes of TAi-27 and Th. intermedium. Results showed that hybridization signals were observed in all regions of a pair of the smallest alien chromosomes and the pericentromeric area of another pair of alien chromosomes in TAi-27, indicating that the probe from microdissected chromosome is species specific. In Th. intermedium, 14 chromosomes had wide and strong hybridization signals distributed mainly on the pericentromere area and 9 chromosomes with narrow and weak signals on the pericentromere area. The remaining chromosomes displayed a very weak or no signal. Sequential FISH/GISH on Th. intermedium chromosomes using the DNAs of microdissected chromosome, Pseudoroegneria spicata (St genome and pDbH12 (a J(s genome specific probe as the probes indicated that the microdissected chromosome belonged to the St genome, three genomes (J(s , J and St in Th. intermedium could be distinguished, in which there is no hybridization signal on J genome that is similar to the genome of Th. bessarabicum. Our results showed that the smallest alien chromosomes may represent a truncated chromosome and the repetitive sequence distribution might be similar in different chromosomes within the St genome. However, the repetitive sequence distributions are different within the J(s genome, within a single chromosome, and among different genomes in Th. intermedium. Our results suggested that chromosome painting could be feasible in some plants and useful in detecting chromosome variation and repetitive sequence distribution in different genomes of polyploidy plants, which is helpful for understanding the evolution of

  17. Chromosome and genome size variation in Luzula (Juncaceae), a genus with holocentric chromosomes

    Czech Academy of Sciences Publication Activity Database

    Bozek, M.; Leitch, A. R.; Leitch, I. J.; Záveská Drábková, Lenka; Kuta, E.

    2012-01-01

    Roč. 170, č. 4 (2012), s. 529-541 ISSN 0024-4074 R&D Projects: GA ČR GP206/07/P147 Institutional support: RVO:67985939 Keywords : chromosomal evolution * endopolyploidy * holokinetic chromosome * karyotype evolution * tetraploides * centromeres * TRNF intergenic spacer Subject RIV: EF - Botanics Impact factor: 2.589, year: 2012

  18. Chromosomal geometry in the interface from the frequency of the radiation induced chromosome aberrations

    International Nuclear Information System (INIS)

    Nasazzi, N.; Otero, D.; Di Giorgio, M.

    1996-01-01

    Ionizing radiation induces DNA double-strand breaks (DSBs) and their interaction and illegitimate recombination produces chromosomal aberrations. Stable chromosomal aberrations comprise inter-chromosomal events (translocations) and intra-chromosomal events (inversions). When DSBs induction and interaction is done at random, and the proximity effects are neglected, the expected relation between translocations and inversions is F=86, based on chromosome arm length. The number of translocations and inversions is analyzed by using G-banding in 16 lymphocytes cultures from blood samples acutely irradiated with γ-rays (dose range: 0,5 Gy - 3 Gy). The result obtained was: F=13,5, significantly smaller than F=86. Literature data show similar small F values, but strongly spread. The excess of inversions could be explained by a 'proximity effect', it means that more proximate DSBs have more interaction probability. Therefore, it is possible to postulate a special chromosome arrangement during irradiation and the subsequent interval. We propose a model where individual chromosomes show spherical confinement with some degree of overlapping and DSBs induction proportional to cross section. A DSBs interaction probability function with cut-off length= 1μ is assumed. According to our results, the confinement volume is ≅ 6.4% of the nuclear volume. Nevertheless, we presume that large spread in F data could be due to temporal variation in overlapping and spatial chromosomal confinement. (authors). 14 refs

  19. Chromosome painting in biological dosimetry: Semi-automatic system to score stable chromosome aberrations

    International Nuclear Information System (INIS)

    Garcia-Sagredo, J.M.; Vallcorba, I.; Sanchez-Hombre, M.C.; Ferro, M.T.; San Roman Cos-Gayon, C.; Santos, A.; Malpica, N.; Ortiz, C.

    1997-01-01

    From the beginning of the description of the procedure of chromosome painting by fluorescence in situ hybridization (FISH), it was thought its possible application to score induced chromosomal aberrations in radiation exposition. With chromosome painting it is possible to detect changes between chromosomes that has been validated in radiation exposition. Translocation scoring by FISH, contrarily to the unstable dicentrics, mainly detect stable chromosome aberrations that do not disappear, it allows the capability of quantify delayed acute expositions or chronic cumulative expositions. The large number of cells that have to be analyzed for high accuracy, specially when dealing with low radiation doses, makes it almost imperative to use an automatic analysis system. After validate translocation scoring by FISH in our, we have evaluated the ability and sensitivity to detect chromosomal aberrations by chromosome using different paint probes used, showing that any combination of paint probes can be used to score induced chromosomal aberrations. Our group has developed a FISH analysis that is currently being adapted for translocation scoring analysis. It includes systematic error correction and internal control probes. The performance tests carried out show that 9,000 cells can be analyzed in 10 hr. using a Sparc 4/370. Although with a faster computer, a higher throughput is expected, for large population screening or very low radiation doses, this performance still has to be improved. (author)

  20. Unique mosaicism of structural chromosomal rearrangement: is chromosome 18 preferentially involved?

    NARCIS (Netherlands)

    Pater, J.M. de; Smeets, D.F.C.M.; Scheres, J.M.J.C.

    2003-01-01

    The mentally normal mother of a 4-year-old boy with del(18)(q21.3) syndrome was tested cytogenetically to study the possibility of an inherited structural rearrangement of chromosome 18. She was found to carry an unusual mosaicism involving chromosomes 18 and 21. Two unbalanced cell lines were seen