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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: Dystonia musculorum deformans.

    GERRISH, A

    The Canadian nurse

    2003  Volume 48, Issue 7, Page(s) 563–566

    MeSH term(s) Dystonia Musculorum Deformans ; Dystonic Disorders ; Genetic Diseases, X-Linked ; Humans
    Language English
    Publishing date 2003-09-16
    Publishing country Canada
    Document type Journal Article
    ZDB-ID 603665-x
    ISSN 0008-4581 ; 1492-5494
    ISSN 0008-4581 ; 1492-5494
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article ; Online: Retinoblastoma: From genes to patient care.

    Bouchoucha, Y / Matet, A / Berger, A / Carcaboso, A M / Gerrish, A / Moll, A / Jenkinson, H / Ketteler, P / Dorsman, J C / Chantada, G / Beck-Popovic, M / Munier, F / Aerts, I / Doz, F / Golmard, L

    European journal of medical genetics

    2022  Volume 66, Issue 1, Page(s) 104674

    Abstract: Retinoblastoma is the most common paediatric neoplasm of the retina, and one of the earliest model of cancer genetics since the identification of the master tumour suppressor gene RB1. Tumorigenesis has been shown to be driven by pathogenic variants of ... ...

    Abstract Retinoblastoma is the most common paediatric neoplasm of the retina, and one of the earliest model of cancer genetics since the identification of the master tumour suppressor gene RB1. Tumorigenesis has been shown to be driven by pathogenic variants of the RB1 locus, but also genomic and epigenomic alterations outside the locus. The increasing knowledge on this "mutational landscape" is used in current practice for precise genetic testing and counselling. Novel methods provide access to pre-therapeutic tumour DNA, by isolating cell-free DNA from aqueous humour or plasma. This is expected to facilitate assessment of the constitutional status of RB1, to provide an early risk stratification using molecular prognostic markers, to follow the response to the treatment in longitudinal studies, and to predict the response to targeted therapies. The aim of this review is to show how molecular genetics of retinoblastoma drives diagnosis, treatment, monitoring of the disease and surveillance of the patients and relatives. We first recap the current knowledge on retinoblastoma genetics and its use in every-day practice. We then focus on retinoblastoma subgrouping at the era of molecular biology, and the expected input of cell-free DNA in the field.
    Language English
    Publishing date 2022-12-05
    Publishing country Netherlands
    Document type Journal Article
    ZDB-ID 2184135-4
    ISSN 1878-0849 ; 1769-7212
    ISSN (online) 1878-0849
    ISSN 1769-7212
    DOI 10.1016/j.ejmg.2022.104674
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  4. 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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  5. 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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  6. Article: Omental infarction with liquefied necrosis after Roux Y gastric bypass: case report and literature review.

    Alwatari, Yahya / Gerrish, Ashley / Ayalew, Dawit / Campos, Guilherme M / Salluzzo, Jennifer L

    Journal of surgical case reports

    2020  Volume 2020, Issue 8, Page(s) rjaa212

    Abstract: Omental infarction is a rare phenomenon that can be idiopathic or secondary to a surgical intervention. Greater omentum division has been advocated to decrease tension at the gastro-jejunal anastomosis during laparoscopic Roux-en-Y gastric bypass (RYGB). ...

    Abstract Omental infarction is a rare phenomenon that can be idiopathic or secondary to a surgical intervention. Greater omentum division has been advocated to decrease tension at the gastro-jejunal anastomosis during laparoscopic Roux-en-Y gastric bypass (RYGB). We report a case of omental infraction complicated by liquefied infected necrosis presenting 3 weeks after antecolic antegastric RYGB. The patient underwent laparotomy and subtotal omentectomy with a protracted hospital course due to intra-abdominal abscesses, acute kidney injury and small bowel obstruction that were successfully managed non-operatively. We reviewed the available literature on omental infarction after RYGB, focusing on associated symptoms, possible etiology, timing of presentation, management and propose an alternative technique without omental division.
    Language English
    Publishing date 2020-08-15
    Publishing country England
    Document type Journal Article
    ISSN 2042-8812
    ISSN 2042-8812
    DOI 10.1093/jscr/rjaa212
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  7. Article: Clinical outcomes and cost-effectiveness of three alternative compression systems used in the management of venous leg ulcers.

    Guest, J F / Gerrish, A / Ayoub, N / Vowden, K / Vowden, P

    Journal of wound care

    2015  Volume 24, Issue 7, Page(s) 300, 302–5, 307–8, passim

    Abstract: Objective: To assess clinical outcomes and cost-effectiveness of using a two-layer cohesive compression bandage (TLCCB; Coban 2) compared with a two-layer compression system (TLCS; Ktwo) and a four-layer compression system (FLCS; Profore) in treating ... ...

    Abstract Objective: To assess clinical outcomes and cost-effectiveness of using a two-layer cohesive compression bandage (TLCCB; Coban 2) compared with a two-layer compression system (TLCS; Ktwo) and a four-layer compression system (FLCS; Profore) in treating venous leg ulcers (VLUs) in clinical practice in the UK, from the perspective of the National Health Service (NHS).
    Method: This was a retrospective analysis of the case records of VLU patients, randomly extracted from The Health Improvement Network (THIN) database (a nationally representative database of clinical practice among patients registered with general practitioners in the UK), who were treated with either TLCCB (n=250), TLCS (n=250) or FLCS (n=175). Clinical outcomes and health-care resource use (and costs) over six months after starting treatment with each compression system were estimated. Differences in outcomes and resource use between treatments were adjusted for differences in baseline covariates.
    Results: Patients' mean age was 75 years old and 57% were female. The mean time with a VLU was 6-7 months and the mean initial wound size was 77-85 cm2. The overall VLU healing rate, irrespective of bandage type, was 44% over the six months' study period. In the TLCCB group, 51% of wounds had healed by six months compared with 40% (p=0.03) and 28% (p=0.001) in the TLCS and FLCS groups, respectively. The mean time to healing was 2.5 months. Patients in the TLCCB group experienced better health-related quality of life (HRQoL) over six months (0.374 quality-adjusted life years (QALYs) per patient), compared with the TLCS (0.368 QALYs per patient) and FLCS (0.353 QALYs per patient). The mean six-monthly NHS management cost was £2,413, £2,707 and £2,648 per patient in the TLCCB, TLCS and FLCS groups, respectively.
    Conclusion: Despite the systems studied reporting similar compression levels when tested in controlled studies, real-world evidence demonstrates that initiating treatment with TLCCB, compared with the other two compression systems, affords a more cost-effective use of NHS-funded resources in clinical practice, since it resulted in an increased healing rate, better HRQoL and a reduction in NHS management cost. The evidence also highlighted the lack of continuity between clinicians managing a wound, the inconsistent nature of the administered treatments and the lack of specialist involvement, all of which may impact on healing.
    Declaration of interest: This study was supported by an unrestricted research grant from 3M Health Care, UK. 3M Health Care had no influence on the study design, the collection, analysis, and interpretation of data, or on the writing of, and decision to submit for publication, the manuscript.
    MeSH term(s) Aged ; Compression Bandages/economics ; Cost-Benefit Analysis ; Female ; Humans ; Male ; Models, Economic ; Quality of Life ; Retrospective Studies ; Time Factors ; Treatment Outcome ; United Kingdom ; Varicose Ulcer/therapy ; Wound Healing/physiology
    Language English
    Publishing date 2015-07
    Publishing country England
    Document type Comparative Study ; Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 1353951-6
    ISSN 0969-0700
    ISSN 0969-0700
    DOI 10.12968/jowc.2015.24.7.300
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  8. 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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  9. Article: Syndication and supplier risk and the use of VSRD

    Gerrish, Allan

    Managing business risk : a practical guide to protecting your business , p. 129-138

    2007  , Page(s) 129–138

    Author's details Allan Gerrish
    Keywords Störungsmanagement ; Risikomanagement ; Unternehmensdienstleistung ; Lieferantenmanagement ; Großbritannien
    Language English
    Publisher Kogan Page
    Publishing place London [u.a.]
    Document type Article
    ISBN 978-074-944-949-0 ; 074-944-949-7
    Database ECONomics Information System

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  10. 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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