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  1. Article ; Online: A conservative approach in a child with haematuria after accidental rectal impalement trauma.

    Schijns, Josephine / Plötz, Frans Berend

    African journal of paediatric surgery : AJPS

    2015  Volume 12, Issue 3, Page(s) 191–192

    Abstract: We present a case of an 11-year-old boy with haematuria after traumatic rectal insertion of a sharp metal stick. It demonstrates that an expectative management with close observation can be considered in patients with rectal impalement trauma presenting ... ...

    Abstract We present a case of an 11-year-old boy with haematuria after traumatic rectal insertion of a sharp metal stick. It demonstrates that an expectative management with close observation can be considered in patients with rectal impalement trauma presenting with haematuria and stable vital parameters without significant injury on abdominal ultrasound.
    MeSH term(s) Child ; Foreign Bodies/complications ; Foreign Bodies/diagnosis ; Hematuria/diagnosis ; Hematuria/etiology ; Humans ; Male ; Rectum/injuries ; Urinary Bladder/injuries ; Wounds, Penetrating/complications ; Wounds, Penetrating/diagnosis
    Language English
    Publishing date 2015-07
    Publishing country India
    Document type Case Reports ; Journal Article
    ZDB-ID 2392865-7
    ISSN 0974-5998 ; 0189-6725
    ISSN (online) 0974-5998
    ISSN 0189-6725
    DOI 10.4103/0189-6725.170198
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: A conservative approach in a child with haematuria after accidental rectal impalement trauma

    Josephine Schijns / Frans Berend Plötz

    African Journal of Paediatric Surgery, Vol 12, Iss 3, Pp 191-

    2015  Volume 192

    Abstract: We present a case of an 11-year-old boy with haematuria after traumatic rectal insertion of a sharp metal stick. It demonstrates that an expectative management with close observation can be considered in patients with rectal impalement trauma presenting ... ...

    Abstract We present a case of an 11-year-old boy with haematuria after traumatic rectal insertion of a sharp metal stick. It demonstrates that an expectative management with close observation can be considered in patients with rectal impalement trauma presenting with haematuria and stable vital parameters without significant injury on abdominal ultrasound.
    Keywords Child ; haematuria ; impalement ; rectal ; trauma ; Pediatrics ; RJ1-570 ; Medicine ; R ; Surgery ; RD1-811
    Language English
    Publishing date 2015-01-01T00:00:00Z
    Publisher Medknow Publications
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  3. Article ; Online: Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles.

    Haghshenas, Sadegheh / Bout, Hidde J / Schijns, Josephine M / Levy, Michael A / Kerkhof, Jennifer / Bhai, Pratibha / McConkey, Haley / Jenkins, Zandra A / Williams, Ella M / Halliday, Benjamin J / Huisman, Sylvia A / Lauffer, Peter / de Waard, Vivian / Witteveen, Laura / Banka, Siddharth / Brady, Angela F / Galazzi, Elena / van Gils, Julien / Hurst, Anna C E /
    Kaiser, Frank J / Lacombe, Didier / Martinez-Monseny, Antonio F / Fergelot, Patricia / Monteiro, Fabíola P / Parenti, Ilaria / Persani, Luca / Santos-Simarro, Fernando / Simpson, Brittany N / Alders, Mariëlle / Robertson, Stephen P / Sadikovic, Bekim / Menke, Leonie A

    HGG advances

    2024  Volume 5, Issue 3, Page(s) 100287

    Abstract: CREB-binding protein (CBP, encoded by CREBBP) and its paralog E1A-associated protein (p300, encoded by EP300) are involved in histone acetylation and transcriptional regulation. Variants that produce a null allele or disrupt the catalytic domain of ... ...

    Abstract CREB-binding protein (CBP, encoded by CREBBP) and its paralog E1A-associated protein (p300, encoded by EP300) are involved in histone acetylation and transcriptional regulation. Variants that produce a null allele or disrupt the catalytic domain of either protein cause Rubinstein-Taybi syndrome (RSTS), while pathogenic missense and in-frame indel variants in parts of exons 30 and 31 cause phenotypes recently described as Menke-Hennekam syndrome (MKHK). To distinguish MKHK subtypes and define their characteristics, molecular and extended clinical data on 82 individuals (54 unpublished) with variants affecting CBP (n = 71) or p300 (n = 11) (NP_004371.2 residues 1,705-1,875 and NP_001420.2 residues 1,668-1,833, respectively) were summarized. Additionally, genome-wide DNA methylation profiles were assessed in DNA extracted from whole peripheral blood from 54 individuals. Most variants clustered closely around the zinc-binding residues of two zinc-finger domains (ZZ and TAZ2) and within the first α helix of the fourth intrinsically disordered linker (ID4) of CBP/p300. Domain-specific methylation profiles were discerned for the ZZ domain in CBP/p300 (found in nine out of 10 tested individuals) and TAZ2 domain in CBP (in 14 out of 20), while a domain-specific diagnostic episignature was refined for the ID4 domain in CBP/p300 (in 21 out of 21). Phenotypes including intellectual disability of varying degree and distinct physical features were defined for each of the regions. These findings demonstrate existence of at least three MKHK subtypes, which are domain specific (MKHK-ZZ, MKHK-TAZ2, and MKHK-ID4) rather than gene specific (CREBBP/EP300). DNA methylation episignatures enable stratification of molecular pathophysiologic entities within a gene or across a family of paralogous genes.
    Language English
    Publishing date 2024-03-29
    Publishing country United States
    Document type Journal Article
    ISSN 2666-2477
    ISSN (online) 2666-2477
    DOI 10.1016/j.xhgg.2024.100287
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  4. Article ; Online: Long-term motor and behavioral outcome after perinatal hypoxic-ischemic encephalopathy.

    van Schie, Petra E M / Schijns, Josephine / Becher, Jules G / Barkhof, Frederik / van Weissenbruch, Mirjam M / Vermeulen, R Jeroen

    European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society

    2015  Volume 19, Issue 3, Page(s) 354–359

    Abstract: Background: A cohort of children born with perinatal hypoxic-ischemic encephalopathy (HIE) was followed prospectively until school age.: Aims: To describe motor outcome and behavioral functioning of school-age children after perinatal HIE and the ... ...

    Abstract Background: A cohort of children born with perinatal hypoxic-ischemic encephalopathy (HIE) was followed prospectively until school age.
    Aims: To describe motor outcome and behavioral functioning of school-age children after perinatal HIE and the relationship with neonatal MRI and outcome at age 2.
    Methods: Twenty-five children (19 males), born at term with perinatal HIE, were assessed at a mean age of 7 y 6 m (range 6 y 4 m-8 y 2 m). Motor ability was assessed with the Movement Assessment Battery for Children (2nd version) and behavioral functioning was assessed with the Child Behavior Checklist. Neonatal MRI was scored according to Barkovich classification.
    Results: Of the 25 included children, eight had cerebral palsy (CP). Of the 17 children without CP, nine had impaired motor ability (of which 3 scored definitely abnormal), and four had behavioral problems. There was a significant difference in motor performance (p = 0.008) between children with normal and children with abnormal neonatal MRI. Two (of four) children with normal motor ability and seven (of 14) children with normal neurological examination at age 2 showed impaired motor ability at school age.
    Conclusions: Half of the children without CP had impaired motor ability at school age. A normal outcome after HIE at young age does not necessarily imply a good outcome at school age, even when neonatal MRI does not show any abnormalities. More research is needed on the behavioral and cognitive consequences of HIE at school age and on the consequences for quality of life for children with and without CP.
    MeSH term(s) Cerebral Palsy/etiology ; Child ; Child, Preschool ; Female ; Humans ; Hypoxia-Ischemia, Brain/complications ; Hypoxia-Ischemia, Brain/pathology ; Infant, Newborn ; Infant, Newborn, Diseases ; Magnetic Resonance Imaging ; Male ; Motor Disorders/epidemiology ; Motor Disorders/etiology ; Neurologic Examination ; Quality of Life
    Language English
    Publishing date 2015-05
    Publishing country England
    Document type Journal Article
    ZDB-ID 1397146-3
    ISSN 1532-2130 ; 1090-3798
    ISSN (online) 1532-2130
    ISSN 1090-3798
    DOI 10.1016/j.ejpn.2015.01.005
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 4867: Show issues Location:
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    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (2.OG)
    ab Jg. 2022: Lesesaal (EG)
    Zs.MO 641: Show issues

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  5. Article ; Online: Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders.

    Levy, Michael A / Relator, Raissa / McConkey, Haley / Pranckeviciene, Erinija / Kerkhof, Jennifer / Barat-Houari, Mouna / Bargiacchi, Sara / Biamino, Elisa / Palomares Bralo, María / Cappuccio, Gerarda / Ciolfi, Andrea / Clarke, Angus / DuPont, Barbara R / Elting, Mariet W / Faivre, Laurence / Fee, Timothy / Ferilli, Marco / Fletcher, Robin S / Cherick, Florian /
    Foroutan, Aidin / Friez, Michael J / Gervasini, Cristina / Haghshenas, Sadegheh / Hilton, Benjamin A / Jenkins, Zandra / Kaur, Simranpreet / Lewis, Suzanne / Louie, Raymond J / Maitz, Silvia / Milani, Donatella / Morgan, Angela T / Oegema, Renske / Østergaard, Elsebet / Pallares, Nathalie R / Piccione, Maria / Plomp, Astrid S / Poulton, Cathryn / Reilly, Jack / Rius, Rocio / Robertson, Stephen / Rooney, Kathleen / Rousseau, Justine / Santen, Gijs W E / Santos-Simarro, Fernando / Schijns, Josephine / Squeo, Gabriella M / John, Miya St / Thauvin-Robinet, Christel / Traficante, Giovanna / van der Sluijs, Pleuntje J / Vergano, Samantha A / Vos, Niels / Walden, Kellie K / Azmanov, Dimitar / Balci, Tugce B / Banka, Siddharth / Gecz, Jozef / Henneman, Peter / Lee, Jennifer A / Mannens, Marcel M A M / Roscioli, Tony / Siu, Victoria / Amor, David J / Baynam, Gareth / Bend, Eric G / Boycott, Kym / Brunetti-Pierri, Nicola / Campeau, Philippe M / Campion, Dominique / Christodoulou, John / Dyment, David / Esber, Natacha / Fahrner, Jill A / Fleming, Mark D / Genevieve, David / Heron, Delphine / Husson, Thomas / Kernohan, Kristin D / McNeill, Alisdair / Menke, Leonie A / Merla, Giuseppe / Prontera, Paolo / Rockman-Greenberg, Cheryl / Schwartz, Charles / Skinner, Steven A / Stevenson, Roger E / Vincent, Marie / Vitobello, Antonio / Tartaglia, Marco / Alders, Marielle / Tedder, Matthew L / Sadikovic, Bekim

    Human mutation

    2022  Volume 43, Issue 11, Page(s) 1609–1628

    Abstract: An expanding range of genetic syndromes are characterized by genome-wide disruptions in DNA methylation profiles referred to as episignatures. Episignatures are distinct, highly sensitive, and specific biomarkers that have recently been applied in ... ...

    Abstract An expanding range of genetic syndromes are characterized by genome-wide disruptions in DNA methylation profiles referred to as episignatures. Episignatures are distinct, highly sensitive, and specific biomarkers that have recently been applied in clinical diagnosis of genetic syndromes. Episignatures are contained within the broader disorder-specific genome-wide DNA methylation changes, which can share significant overlap among different conditions. In this study, we performed functional genomic assessment and comparison of disorder-specific and overlapping genome-wide DNA methylation changes related to 65 genetic syndromes with previously described episignatures. We demonstrate evidence of disorder-specific and recurring genome-wide differentially methylated probes (DMPs) and regions (DMRs). The overall distribution of DMPs and DMRs across the majority of the neurodevelopmental genetic syndromes analyzed showed substantial enrichment in gene promoters and CpG islands, and under-representation of the more variable intergenic regions. Analysis showed significant enrichment of the DMPs and DMRs in gene pathways and processes related to neurodevelopment, including neurogenesis, synaptic signaling and synaptic transmission. This study expands beyond the diagnostic utility of DNA methylation episignatures by demonstrating correlation between the function of the mutated genes and the consequent genomic DNA methylation profiles as a key functional element in the molecular etiology of genetic neurodevelopmental disorders.
    MeSH term(s) CpG Islands/genetics ; DNA Methylation/genetics ; DNA, Intergenic ; Epigenesis, Genetic ; Humans ; Neurodevelopmental Disorders/diagnosis ; Neurodevelopmental Disorders/genetics ; Syndrome
    Chemical Substances DNA, Intergenic
    Language English
    Publishing date 2022-08-21
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 1126646-6
    ISSN 1098-1004 ; 1059-7794
    ISSN (online) 1098-1004
    ISSN 1059-7794
    DOI 10.1002/humu.24446
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 3586: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
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    Jg. 1995 - 2021: Lesesall (2.OG)
    ab Jg. 2022: Lesesaal (EG)

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  6. Article ; Online: Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders.

    Levy, Michael A / McConkey, Haley / Kerkhof, Jennifer / Barat-Houari, Mouna / Bargiacchi, Sara / Biamino, Elisa / Bralo, María Palomares / Cappuccio, Gerarda / Ciolfi, Andrea / Clarke, Angus / DuPont, Barbara R / Elting, Mariet W / Faivre, Laurence / Fee, Timothy / Fletcher, Robin S / Cherik, Florian / Foroutan, Aidin / Friez, Michael J / Gervasini, Cristina /
    Haghshenas, Sadegheh / Hilton, Benjamin A / Jenkins, Zandra / Kaur, Simranpreet / Lewis, Suzanne / Louie, Raymond J / Maitz, Silvia / Milani, Donatella / Morgan, Angela T / Oegema, Renske / Østergaard, Elsebet / Pallares, Nathalie Ruiz / Piccione, Maria / Pizzi, Simone / Plomp, Astrid S / Poulton, Cathryn / Reilly, Jack / Relator, Raissa / Rius, Rocio / Robertson, Stephen / Rooney, Kathleen / Rousseau, Justine / Santen, Gijs W E / Santos-Simarro, Fernando / Schijns, Josephine / Squeo, Gabriella Maria / St John, Miya / Thauvin-Robinet, Christel / Traficante, Giovanna / van der Sluijs, Pleuntje J / Vergano, Samantha A / Vos, Niels / Walden, Kellie K / Azmanov, Dimitar / Balci, Tugce / Banka, Siddharth / Gecz, Jozef / Henneman, Peter / Lee, Jennifer A / Mannens, Marcel M A M / Roscioli, Tony / Siu, Victoria / Amor, David J / Baynam, Gareth / Bend, Eric G / Boycott, Kym / Brunetti-Pierri, Nicola / Campeau, Philippe M / Christodoulou, John / Dyment, David / Esber, Natacha / Fahrner, Jill A / Fleming, Mark D / Genevieve, David / Kerrnohan, Kristin D / McNeill, Alisdair / Menke, Leonie A / Merla, Giuseppe / Prontera, Paolo / Rockman-Greenberg, Cheryl / Schwartz, Charles / Skinner, Steven A / Stevenson, Roger E / Vitobello, Antonio / Tartaglia, Marco / Alders, Marielle / Tedder, Matthew L / Sadikovic, Bekim

    HGG advances

    2021  Volume 3, Issue 1, Page(s) 100075

    Abstract: Overlapping clinical phenotypes and an expanding breadth and complexity of genomic associations are a growing challenge in the diagnosis and clinical management of Mendelian disorders. The functional consequences and clinical impacts of genomic variation ...

    Abstract Overlapping clinical phenotypes and an expanding breadth and complexity of genomic associations are a growing challenge in the diagnosis and clinical management of Mendelian disorders. The functional consequences and clinical impacts of genomic variation may involve unique, disorder-specific, genomic DNA methylation episignatures. In this study, we describe 19 novel episignature disorders and compare the findings alongside 38 previously established episignatures for a total of 57 episignatures associated with 65 genetic syndromes. We demonstrate increasing resolution and specificity ranging from protein complex, gene, sub-gene, protein domain, and even single nucleotide-level Mendelian episignatures. We show the power of multiclass modeling to develop highly accurate and disease-specific diagnostic classifiers. This study significantly expands the number and spectrum of disorders with detectable DNA methylation episignatures, improves the clinical diagnostic capabilities through the resolution of unsolved cases and the reclassification of variants of unknown clinical significance, and provides further insight into the molecular etiology of Mendelian conditions.
    Language English
    Publishing date 2021-12-03
    Publishing country United States
    Document type Journal Article
    ISSN 2666-2477
    ISSN (online) 2666-2477
    DOI 10.1016/j.xhgg.2021.100075
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