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  1. Article: The Impact of Cell-Free DNA Analysis on the Management of Retinoblastoma.

    Gerrish, Amy / Jenkinson, Helen / Cole, Trevor

    Cancers

    2021  Volume 13, Issue 7

    Abstract: Retinoblastoma is a childhood eye cancer, mainly caused by mutations in ... ...

    Abstract Retinoblastoma is a childhood eye cancer, mainly caused by mutations in the
    Language English
    Publishing date 2021-03-29
    Publishing country Switzerland
    Document type Journal Article ; Review
    ZDB-ID 2527080-1
    ISSN 2072-6694
    ISSN 2072-6694
    DOI 10.3390/cancers13071570
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: Case 239: Cerebrotendinous Xanthomatosis.

    Gerrish, Amy C / Gaba, Suchi

    Radiology

    2017  Volume 282, Issue 3, Page(s) 916–921

    Abstract: History A 63-year-old man with learning difficulties presented to the Accident and Emergency Department with right ankle pain after an inversion injury and underwent plain radiography. The patient had developed normally until his teenage years, at which ... ...

    Abstract History A 63-year-old man with learning difficulties presented to the Accident and Emergency Department with right ankle pain after an inversion injury and underwent plain radiography. The patient had developed normally until his teenage years, at which point he experienced cognitive regression. He experienced swallowing difficulties, tinnitus, and fecal incontinence, and he had undergone cataract surgery at the age of 20 years. He also had a small nodule on the volar surface of his right ring finger. Magnetic resonance (MR) imaging of the brain and the right ankle had been performed 3 years previously. Routine biochemistry (full blood count and renal function) results were normal. Total cholesterol level was 3.6 mmol/L (normal, <5.0 mmol/L). The patient had three siblings who had the same condition, with one having died in childhood.
    MeSH term(s) Achilles Tendon/diagnostic imaging ; Achilles Tendon/pathology ; Ankle/diagnostic imaging ; Ankle/pathology ; Brain/diagnostic imaging ; Brain/pathology ; Diagnosis, Differential ; Humans ; Magnetic Resonance Imaging ; Middle Aged ; Xanthomatosis, Cerebrotendinous/diagnostic imaging ; Xanthomatosis, Cerebrotendinous/pathology
    Language English
    Publishing date 2017-03
    Publishing country United States
    Document type Case Reports ; Journal Article
    ZDB-ID 80324-8
    ISSN 1527-1315 ; 0033-8419
    ISSN (online) 1527-1315
    ISSN 0033-8419
    DOI 10.1148/radiol.2016150707
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Ue I Zs.106: Show issues Location:
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    ab Jg. 2022: Lesesaal (EG)

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  3. Article ; Online: Peritonsillar abscess in an infant with congenital bone marrow failure.

    Pericleous, Agamemnon / Wilkinson, Sophie / Gerrish, Amy / Daniel, Mat

    International journal of pediatric otorhinolaryngology

    2019  Volume 124, Page(s) 200–202

    Abstract: Peritonsillar abscess is extremely rare in infants and is potentially life-threatening. We report the case of a 3 month old infant with a background of congenital bone marrow failure who presented with sepsis and desaturation requiring intubation and ... ...

    Abstract Peritonsillar abscess is extremely rare in infants and is potentially life-threatening. We report the case of a 3 month old infant with a background of congenital bone marrow failure who presented with sepsis and desaturation requiring intubation and PICU care. Ultrasound and CT scan revealed an inflammatory mass. Examination in theatre revealed a self-draining quinsy. Following formal drainage in theatre, the child improved and was extubated uneventfully 1 day later. Prompt surgical and medical management as well as the presence of a well-coordinated multidisciplinary team are crucial in ensuring the adequate management of complex paediatric patients.
    MeSH term(s) Fanconi Anemia/complications ; Female ; Humans ; Infant ; Peritonsillar Abscess/diagnosis ; Peritonsillar Abscess/etiology ; Peritonsillar Abscess/therapy ; Tomography, X-Ray Computed
    Language English
    Publishing date 2019-05-29
    Publishing country Ireland
    Document type Case Reports ; Journal Article
    ZDB-ID 754501-0
    ISSN 1872-8464 ; 0165-5876
    ISSN (online) 1872-8464
    ISSN 0165-5876
    DOI 10.1016/j.ijporl.2019.05.037
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    Zs.A 1507: Show issues Location:
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    Jg. 1995 - 2021: Lesesall (1.OG)
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    Zs.MO 134: Show issues

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  4. Article ; Online: Expanding Access to Noninvasive Prenatal Diagnosis for Monogenic Conditions to Consanguineous Families.

    Hanson, Britt / Shaw, Joe / Povarnitsyn, Nikita / Bowns, Benjamin / Young, Elizabeth / Gerrish, Amy / Allen, Stephanie / Scotchman, Elizabeth / Chitty, Lyn S / Chandler, Natalie J

    Clinical chemistry

    2024  Volume 70, Issue 5, Page(s) 727–736

    Abstract: Background: Cell-free fetal DNA exists within the maternal bloodstream during pregnancy and provides a means for noninvasive prenatal diagnosis (NIPD). Our accredited clinical service offers definitive NIPD for several autosomal recessive (AR) and X- ... ...

    Abstract Background: Cell-free fetal DNA exists within the maternal bloodstream during pregnancy and provides a means for noninvasive prenatal diagnosis (NIPD). Our accredited clinical service offers definitive NIPD for several autosomal recessive (AR) and X-linked conditions using relative haplotype dosage analysis (RHDO). RHDO involves next-generation sequencing (NGS) of thousands of common single nucleotide polymorphism (SNPs) surrounding the gene of interest in the parents and an affected or unaffected offspring to conduct haplotype phasing of the high- and low-risk alleles. NGS is carried out in parallel on the maternal cell-free DNA, and fetal inheritance is predicted using sensitive dosage calculations performed at sites where the parental genotypes differ. RHDO is not currently offered to consanguineous couples owing to the shared haplotype between parents. Here we test the expansion of RHDO for AR monogenic conditions to include consanguineous couples.
    Methods: The existing sequential probability ratio test analysis pipeline was modified to apply to SNPs where both parents are heterozygous for the same genotype. Quality control thresholds were developed using 33 nonconsanguineous cases. The performance of the adapted RHDO pipeline was tested on 8 consanguineous cases.
    Results: The correct fetal genotype was predicted by our revised RHDO approach in all conclusive cases with known genotypes (n = 5). Haplotype block classification accuracies of 94.5% and 93.9% were obtained for the nonconsanguineous and consanguineous case cohorts, respectively.
    Conclusions: Our modified RHDO pipeline correctly predicts the genotype in fetuses from consanguineous families, allowing the potential to expand access to NIPD services for these families.
    MeSH term(s) Humans ; Female ; Pregnancy ; Consanguinity ; Noninvasive Prenatal Testing/methods ; Haplotypes ; Polymorphism, Single Nucleotide ; High-Throughput Nucleotide Sequencing ; Cell-Free Nucleic Acids/genetics ; Prenatal Diagnosis/methods ; Male
    Chemical Substances Cell-Free Nucleic Acids
    Language English
    Publishing date 2024-05-02
    Publishing country England
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 80102-1
    ISSN 1530-8561 ; 0009-9147
    ISSN (online) 1530-8561
    ISSN 0009-9147
    DOI 10.1093/clinchem/hvae023
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Ud II Zs.171: Show issues Location:
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  5. Article ; Online: Case 239.

    Gerrish, Amy C / Gaba, Suchi

    Radiology

    2016  Volume 281, Issue 2, Page(s) 635–638

    Language English
    Publishing date 2016-11
    Publishing country United States
    Document type Journal Article
    ZDB-ID 80324-8
    ISSN 1527-1315 ; 0033-8419
    ISSN (online) 1527-1315
    ISSN 0033-8419
    DOI 10.1148/radiol.2016150706
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Ue I Zs.106: Show issues Location:
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  6. Article: Genetic Diagnosis of Retinoblastoma Using Aqueous Humour-Findings from an Extended Cohort.

    Gerrish, Amy / Mashayamombe-Wolfgarten, Chipo / Stone, Edward / Román-Montañana, Claudia / Abbott, Joseph / Jenkinson, Helen / Millen, Gerard / Gurney, Sam / McCalla, Maureen / Staveley, Sarah-Jane / Kainth, Anu / Kirk, Maria / Bowen, Claire / Cavanagh, Susan / Bunstone, Sancha / Carney, Megan / Mohite, Ajay / Clokie, Samuel / Reddy, M Ashwin /
    Foster, Alison / Allen, Stephanie / Parulekar, Manoj / Cole, Trevor

    Cancers

    2024  Volume 16, Issue 8

    Abstract: The identification of ... ...

    Abstract The identification of somatic
    Language English
    Publishing date 2024-04-19
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 2527080-1
    ISSN 2072-6694
    ISSN 2072-6694
    DOI 10.3390/cancers16081565
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  7. Article ; Online: Brain white matter tracts: functional anatomy and clinical relevance.

    Gerrish, Amy C / Thomas, Adam G / Dineen, Robert A

    Seminars in ultrasound, CT, and MR

    2014  Volume 35, Issue 5, Page(s) 432–444

    Abstract: Diffusion tensor imaging is increasingly available on clinical magnetic resonance scanners and can be acquired in a relatively short time. There has been an explosion of applications in the research field but the use to the practicing radiologist may ... ...

    Abstract Diffusion tensor imaging is increasingly available on clinical magnetic resonance scanners and can be acquired in a relatively short time. There has been an explosion of applications in the research field but the use to the practicing radiologist may seem obscure. This paper aims to highlight how diffusion tensor imaging can be used to prompt a dedicated neuroanatomical search for white matter lesions in clinical presentations relating to motor, sensory, language, and visuospatial deficits. The enhanced depiction of white matter tracts in the temporal stem is also highlighted, which is a region of importance in epilepsy surgery planning.
    MeSH term(s) Brain Diseases/pathology ; Brain Diseases/physiopathology ; Brain Mapping/methods ; Connectome/methods ; Diffusion Tensor Imaging/methods ; Humans ; White Matter/pathology ; White Matter/physiopathology
    Language English
    Publishing date 2014-10
    Publishing country United States
    Document type Journal Article ; Review
    ZDB-ID 1353113-x
    ISSN 1558-5034 ; 0887-2171
    ISSN (online) 1558-5034
    ISSN 0887-2171
    DOI 10.1053/j.sult.2014.06.003
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    In stock of ZB MED Cologne/Königswinter

    Zs.A 1594: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (1.OG)
    ab Jg. 2022: Lesesaal (EG)

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  8. Article ; Online: Hydrocephalus and trigeminal neuralgia: exploring the association and management options.

    Na, Yuuki Charlie Barke / Pujara, Shyam Vijay / Moussa, Ahmad Abdelhai / Gerrish, Amy Charlotte / Basu, Surajit

    British journal of neurosurgery

    2017  Volume 31, Issue 3, Page(s) 296–299

    Abstract: We report the successful surgical management of three patients with trigeminal neuralgia and hydrocephalus. MRI revealed no neurovascular contact at the trigeminal root entry zone. Trigeminal neuralgic symptoms were controlled following alleviation of ... ...

    Abstract We report the successful surgical management of three patients with trigeminal neuralgia and hydrocephalus. MRI revealed no neurovascular contact at the trigeminal root entry zone. Trigeminal neuralgic symptoms were controlled following alleviation of hydrocephalus. We hypothesize that trigeminal nerve traction, secondary to hydrocephalus, as the cause for their trigeminal neuralgia.
    MeSH term(s) Adult ; Female ; Humans ; Hydrocephalus/complications ; Hydrocephalus/surgery ; Magnetic Resonance Imaging ; Male ; Middle Aged ; Neuroendoscopy/methods ; Recurrence ; Reoperation ; Trigeminal Nerve/surgery ; Trigeminal Neuralgia/complications ; Trigeminal Neuralgia/surgery ; Ventriculoperitoneal Shunt/methods ; Ventriculostomy/methods
    Language English
    Publishing date 2017-04-19
    Publishing country England
    Document type Case Reports ; Journal Article
    ZDB-ID 639029-8
    ISSN 1360-046X ; 0268-8697
    ISSN (online) 1360-046X
    ISSN 0268-8697
    DOI 10.1080/02688697.2017.1317719
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    Zs.A 2210: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
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    Jg. 1995 - 2021: Lesesall (1.OG)
    ab Jg. 2022: Lesesaal (EG)

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  9. Article ; Online: Decreasing the expression of PICALM reduces endocytosis and the activity of β-secretase: implications for Alzheimer's disease.

    Thomas, Rhian S / Henson, Alex / Gerrish, Amy / Jones, Lesley / Williams, Julie / Kidd, Emma J

    BMC neuroscience

    2016  Volume 17, Issue 1, Page(s) 50

    Abstract: Background: Polymorphisms in the gene for phosphatidylinositol binding clathrin assembly protein (PICALM), an endocytic-related protein, are associated with a small, increased risk of developing Alzheimer's disease (AD), strongly suggesting that changes ...

    Abstract Background: Polymorphisms in the gene for phosphatidylinositol binding clathrin assembly protein (PICALM), an endocytic-related protein, are associated with a small, increased risk of developing Alzheimer's disease (AD), strongly suggesting that changes in endocytosis are involved in the aetiology of the disease. We have investigated the involvement of PICALM in the processing of amyloid precursor protein (APP) to understand how PICALM could be linked to the development of AD. We used siRNA to deplete levels of PICALM, its isoforms and clathrin heavy chain in the human brain-derived H4 neuroglioma cell line that expresses endogenous levels of APP. We then used Western blotting, ELISA and immunohistochemistry to detect intra- and extracellular protein levels of endocytic-related proteins, APP and APP metabolites including β-amyloid (Aβ). Levels of functional endocytosis were quantified using ALEXA 488-conjugated transferrin and flow cytometry as a marker of clathrin-mediated endocytosis (CME).
    Results: Following depletion of all the isoforms of PICALM by siRNA in H4 cells, levels of intracellular APP, intracellular β-C-terminal fragment (β-CTF) and secreted sAPPβ (APP fragments produced by β-secretase cleavage) were significantly reduced but Aβ40 was not affected. Functional endocytosis was significantly reduced after both PICALM and clathrin depletion, highlighting the importance of PICALM in this process. However, depletion of clathrin did not affect APP but did reduce β-CTF levels. PICALM depletion altered the intracellular distribution of clathrin while clathrin reduction affected the subcellular pattern of PICALM labelling. Both PICALM and clathrin depletion reduced the expression of BACE1 mRNA and PICALM siRNA reduced protein levels. Individual depletion of PICALM isoforms 1 and 2 did not affect APP levels while clathrin depletion had a differential effect on the isoforms, increasing isoform 1 while decreasing isoform 2 expression.
    Conclusions: The depletion of PICALM in brain-derived cells has significant effects on the processing of APP, probably by reducing CME. In particular, it affects the production of β-CTF which is increasingly considered to be an important mediator in AD independent of Aβ. Thus a decrease in PICALM expression in the brain could be beneficial to slow or prevent the development of AD.
    MeSH term(s) Alzheimer Disease/metabolism ; Amyloid Precursor Protein Secretases/metabolism ; Amyloid beta-Peptides/metabolism ; Amyloid beta-Protein Precursor/metabolism ; Blotting, Western ; Brain/metabolism ; Cell Line, Tumor ; Clathrin Heavy Chains/genetics ; Clathrin Heavy Chains/metabolism ; Endocytosis/physiology ; Enzyme-Linked Immunosorbent Assay ; Flow Cytometry ; Humans ; Immunohistochemistry ; Monomeric Clathrin Assembly Proteins/deficiency ; Monomeric Clathrin Assembly Proteins/genetics ; Peptide Fragments/metabolism ; Protein Isoforms/deficiency ; Protein Isoforms/genetics ; RNA, Messenger/metabolism ; RNA, Small Interfering ; Transferrin/metabolism
    Chemical Substances APP protein, human ; Amyloid beta-Peptides ; Amyloid beta-Protein Precursor ; Monomeric Clathrin Assembly Proteins ; PICALM protein, human ; Peptide Fragments ; Protein Isoforms ; RNA, Messenger ; RNA, Small Interfering ; Transferrin ; amyloid beta-protein (1-40) ; Clathrin Heavy Chains (114899-12-6) ; Amyloid Precursor Protein Secretases (EC 3.4.-)
    Language English
    Publishing date 2016-07-18
    Publishing country England
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 2041344-0
    ISSN 1471-2202 ; 1471-2202
    ISSN (online) 1471-2202
    ISSN 1471-2202
    DOI 10.1186/s12868-016-0288-1
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  10. Article: Non-Invasive Prenatal Diagnosis of Retinoblastoma Inheritance by Combined Targeted Sequencing Strategies.

    Gerrish, Amy / Bowns, Benjamin / Mashayamombe-Wolfgarten, Chipo / Young, Elizabeth / Court, Samantha / Bott, Joshua / McCalla, Maureen / Ramsden, Simon / Parks, Michael / Goudie, David / Carless, Sue / Clokie, Samuel / Cole, Trevor / Allen, Stephanie

    Journal of clinical medicine

    2020  Volume 9, Issue 11

    Abstract: Retinoblastoma, the most common childhood eye cancer, presents in two forms: heritable or sporadic. Heritable retinoblastoma is caused by a germline mutation in ... ...

    Abstract Retinoblastoma, the most common childhood eye cancer, presents in two forms: heritable or sporadic. Heritable retinoblastoma is caused by a germline mutation in the
    Language English
    Publishing date 2020-10-30
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 2662592-1
    ISSN 2077-0383
    ISSN 2077-0383
    DOI 10.3390/jcm9113517
    Database MEDical Literature Analysis and Retrieval System OnLINE

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