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  1. Book ; Online ; E-Book: Cassidy and Allanson's management of genetic syndromes

    Allanson, Judith E. / Carey, John C. / Battaglia, Agatino / Viskochil, David H. / Cassidy, Suzanne B.

    2021  

    Title variant Management of genetic syndromes
    Author's details edited by John C. Carey, Agatino Battaglia, David Viskochil, Suzanne B. Cassidy
    Keywords Electronic books ; Hereditary Diseases / diagnosis ; Hereditary Diseases / therapy ; Abnormalities, Multiple / diagnosis ; Abnormalities, Multiple / therapy
    Language English
    Size 1 Online-Ressource (xxxv, 1068 Seiten), Illustrationen
    Edition Fourth edition
    Publisher Wiley Blackwell
    Publishing place Hoboken, NJ
    Publishing country United States
    Document type Book ; Online ; E-Book
    Remark Zugriff für angemeldete ZB MED-Nutzerinnen und -Nutzer
    HBZ-ID HT020617102
    ISBN 978-1-119-43264-7 ; 9781119432678 ; 1-119-43264-2 ; 1119432677
    Database ZB MED Catalogue: Medicine, Health, Nutrition, Environment, Agriculture

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  2. Article ; Online: Objective studies of the face of Noonan, Cardio-facio-cutaneous, and Costello syndromes: A comparison of three disorders of the Ras/MAPK signaling pathway.

    Allanson, Judith E

    American journal of medical genetics. Part A

    2016  Volume 170, Issue 10, Page(s) 2570–2577

    Abstract: Noonan, Cardio-facio-cutaneous, and Costello syndromes are disorders of the Ras/MAPK pathway that share many clinical features. This observational and anthropometric study was conducted to describe the key facial features of each syndrome in order to ... ...

    Abstract Noonan, Cardio-facio-cutaneous, and Costello syndromes are disorders of the Ras/MAPK pathway that share many clinical features. This observational and anthropometric study was conducted to describe the key facial features of each syndrome in order to improve discrimination between the three conditions, particularly in young children where diagnosis is most challenging. Direct measurement of the head and face was used to enhance diagnostic accuracy, and identify the most unusual or specific dimensions. The Noonan syndrome cohort included 123 individuals, aged 6 months to 41 years. There were 20 children and adolescents with Cardio-facio-cutaneous syndrome, and 28 individuals with Costello syndrome, aged 1-32 years. The facial phenotypes of these syndromes, particularly Noonan syndrome, are well-described but objective data have not been published in peer-reviewed literature. In this study, subjective observations, in the main, were validated by anthropometry with one exception. In individuals with Costello syndrome, mouth width was normal, thus the impression of wide mouth is likely due to full lips or the mouth being viewed in relation to a narrow lower face. When the three conditions were compared objectively, syndrome-specific pattern profiles showed high concordance in early life. At older ages, Cardio-facio-cutaneous syndrome was distinguished by increased width of the mid/lower face, and reduced growth of maxillary and mandibular dimensions was noted in both Noonan and Costello syndromes. Despite substantial similarities in face shape in older individuals with these two conditions, bulbous nasal tip, full lips, and an apparently wide mouth in those with Costello Syndrome facilitate discrimination from Noonan syndrome. © 2016 Wiley Periodicals, Inc.
    MeSH term(s) Adolescent ; Adult ; Age Factors ; Body Weights and Measures ; Child ; Child, Preschool ; Costello Syndrome/diagnosis ; Costello Syndrome/genetics ; Costello Syndrome/metabolism ; Diagnosis, Differential ; Ectodermal Dysplasia/diagnosis ; Ectodermal Dysplasia/genetics ; Ectodermal Dysplasia/metabolism ; Facies ; Failure to Thrive/diagnosis ; Failure to Thrive/genetics ; Failure to Thrive/metabolism ; Female ; Heart Defects, Congenital/diagnosis ; Heart Defects, Congenital/genetics ; Heart Defects, Congenital/metabolism ; Humans ; Infant ; Male ; Mitogen-Activated Protein Kinases/metabolism ; Noonan Syndrome/diagnosis ; Noonan Syndrome/genetics ; Noonan Syndrome/metabolism ; Phenotype ; Signal Transduction ; Young Adult ; ras Proteins/metabolism
    Chemical Substances Mitogen-Activated Protein Kinases (EC 2.7.11.24) ; ras Proteins (EC 3.6.5.2)
    Language English
    Publishing date 2016-05-07
    Publishing country United States
    Document type Journal Article
    ZDB-ID 1493479-6
    ISSN 1552-4833 ; 1552-4825
    ISSN (online) 1552-4833
    ISSN 1552-4825
    DOI 10.1002/ajmg.a.37736
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article ; Online: Prolonged disorders of consciousness: A response to a "critical evaluation of the new UK guidelines."

    Wade, Derick T / Turner-Stokes, Lynne / Playford, E Diane / Allanson, Judith / Pickard, John

    Clinical rehabilitation

    2022  Volume 36, Issue 9, Page(s) 1267–1275

    Abstract: Background: In 2020, The London Royal College of Physicians published "Prolonged disorders of consciousness following sudden-onset brain injury: national clinical guidelines". In 2021, in the journal Brain, Scolding et al. published "a critical ... ...

    Abstract Background: In 2020, The London Royal College of Physicians published "Prolonged disorders of consciousness following sudden-onset brain injury: national clinical guidelines". In 2021, in the journal Brain, Scolding et al. published "a critical evaluation of the new UK guidelines". This evaluation focussed on one of the 73 recommendations in the National Clinical Guidelines. They also alleged that the guidelines were unethical.
    Criticisms: They criticised our recommendation not to use activation protocols using fMRI, electroencephalography, or Positron Emission Tomography. They claim these tests can (a) detect 'covert consciousness', (b) add predictive value and (c) should be part of routine clinical care. They also suggest that our guideline was driven by cost considerations, leading to clinicians deciding to withdraw treatment at 72 h.
    Evidence: Our detailed review of the evidence confirms the American Academy of Neurology Practise Guideline (2018) and the European Academy of Neurology Guideline (2020), which agree that insufficient evidence supports their approach.
    Ethics: The ethical objections are based on unwarranted assumptions. Our guideline does not make any recommendations about management until at least four weeks have passed. We explicitly recommend that expert assessors undertake ongoing surveillance and monitoring; we do not suggest that patients be abandoned. Our recommendation will increase the cost We had ethicists in the working party.
    Conclusion: We conclude the "critical evaluation" fails to provide evidence for their criticism and that the ethical objections arise from incorrect assumptions and unsupported interpretations of evidence and our guideline. The 2020 UK national guidelines remain valid.
    MeSH term(s) Consciousness ; Consciousness Disorders/diagnosis ; Consciousness Disorders/etiology ; Humans ; London ; United Kingdom ; United States
    Language English
    Publishing date 2022-05-12
    Publishing country England
    Document type Journal Article
    ZDB-ID 639276-3
    ISSN 1477-0873 ; 0269-2155
    ISSN (online) 1477-0873
    ISSN 0269-2155
    DOI 10.1177/02692155221099704
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  4. Article ; Online: Reduced emergent character of neural dynamics in patients with a disrupted connectome.

    Luppi, Andrea I / Mediano, Pedro A M / Rosas, Fernando E / Allanson, Judith / Pickard, John D / Williams, Guy B / Craig, Michael M / Finoia, Paola / Peattie, Alexander R D / Coppola, Peter / Menon, David K / Bor, Daniel / Stamatakis, Emmanuel A

    NeuroImage

    2023  Volume 269, Page(s) 119926

    Abstract: High-level brain functions are widely believed to emerge from the orchestrated activity of multiple neural systems. However, lacking a formal definition and practical quantification of emergence for experimental data, neuroscientists have been unable to ... ...

    Abstract High-level brain functions are widely believed to emerge from the orchestrated activity of multiple neural systems. However, lacking a formal definition and practical quantification of emergence for experimental data, neuroscientists have been unable to empirically test this long-standing conjecture. Here we investigate this fundamental question by leveraging a recently proposed framework known as "Integrated Information Decomposition," which establishes a principled information-theoretic approach to operationalise and quantify emergence in dynamical systems - including the human brain. By analysing functional MRI data, our results show that the emergent and hierarchical character of neural dynamics is significantly diminished in chronically unresponsive patients suffering from severe brain injury. At a functional level, we demonstrate that emergence capacity is positively correlated with the extent of hierarchical organisation in brain activity. Furthermore, by combining computational approaches from network control theory and whole-brain biophysical modelling, we show that the reduced capacity for emergent and hierarchical dynamics in severely brain-injured patients can be mechanistically explained by disruptions in the patients' structural connectome. Overall, our results suggest that chronic unresponsiveness resulting from severe brain injury may be related to structural impairment of the fundamental neural infrastructures required for brain dynamics to support emergence.
    MeSH term(s) Humans ; Connectome/methods ; Brain ; Magnetic Resonance Imaging/methods ; Nervous System Physiological Phenomena ; Brain Injuries
    Language English
    Publishing date 2023-02-03
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 1147767-2
    ISSN 1095-9572 ; 1053-8119
    ISSN (online) 1095-9572
    ISSN 1053-8119
    DOI 10.1016/j.neuroimage.2023.119926
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  5. Article ; Online: Personal journeys to and in human genetics and dysmorphology.

    Schwartz, Charles E / Aylsworth, Arthur S / Allanson, Judith / Battaglia, Agatino / Carey, John C / Curry, Cynthia J / Davies, Kay E / Eichler, Evan E / Graham, John M / Hall, Bryan / Hall, Judith G / Holmes, Lewis B / Hoyme, H Eugene / Hunter, Alasdair / Innis, Jeffrey / Johnson, John / Keppler-Noreuil, Kim M / Leroy, Jules G / Moore, Cynthia /
    Nelson, David L / Neri, Giovanni / Opitz, John M / Picketts, David / Raymond, F Lucy / Shalev, Stavit Allon / Stevenson, Roger E / Stumpel, Connie T R M / Sutherland, Grant / Viskochil, David H / Weaver, David D / Zackai, Elaine H

    American journal of medical genetics. Part A

    2024  , Page(s) e63514

    Abstract: Genetics has become a critical component of medicine over the past five to six decades. Alongside genetics, a relatively new discipline, dysmorphology, has also begun to play an important role in providing critically important diagnoses to individuals ... ...

    Abstract Genetics has become a critical component of medicine over the past five to six decades. Alongside genetics, a relatively new discipline, dysmorphology, has also begun to play an important role in providing critically important diagnoses to individuals and families. Both have become indispensable to unraveling rare diseases. Almost every medical specialty relies on individuals experienced in these specialties to provide diagnoses for patients who present themselves to other doctors. Additionally, both specialties have become reliant on molecular geneticists to identify genes associated with human disorders. Many of the medical geneticists, dysmorphologists, and molecular geneticists traveled a circuitous route before arriving at the position they occupied. The purpose of collecting the memoirs contained in this article was to convey to the reader that many of the individuals who contributed to the advancement of genetics and dysmorphology since the late 1960s/early 1970s traveled along a journey based on many chances taken, replying to the necessities they faced along the way before finding full enjoyment in the practice of medical and human genetics or dysmorphology. Additionally, and of equal importance, all exhibited an ability to evolve with their field of expertise as human genetics became human genomics with the development of novel technologies.
    Language English
    Publishing date 2024-02-08
    Publishing country United States
    Document type Journal Article
    ZDB-ID 2108614-X
    ISSN 1552-4833 ; 0148-7299 ; 1552-4825
    ISSN (online) 1552-4833
    ISSN 0148-7299 ; 1552-4825
    DOI 10.1002/ajmg.a.63514
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  6. Article ; Online: Mood, Activity Participation, and Leisure Engagement Satisfaction (MAPLES): results from a randomised controlled pilot feasibility trial for low mood in acquired brain injury.

    Kusec, Andrea / Murphy, Fionnuala C / Peers, Polly V / Bennett, Ron / Carmona, Estela / Korbacz, Aleksandra / Lawrence, Cara / Cameron, Emma / Bateman, Andrew / Watson, Peter / Allanson, Judith / duToit, Pieter / Manly, Tom

    BMC medicine

    2023  Volume 21, Issue 1, Page(s) 445

    Abstract: ... for depression in ABI (e.g., cognitive behavioural therapy) have mixed efficacy. Behavioural activation (BA ...

    Abstract Background: Acquired brain injury (ABI) is linked to increased depression risk. Existing therapies for depression in ABI (e.g., cognitive behavioural therapy) have mixed efficacy. Behavioural activation (BA), an intervention that encourages engaging in positively reinforcing activities, shows promise. The primary aims were to assess feasibility, acceptability, and potential efficacy of two 8-week BA groups.
    Methods: Adults (≥ 18 years) recruited from local ABI services, charities, and self-referral via social media were randomised to condition. The Activity Planning group (AP; "traditional" BA) trained participants to plan reinforcing activities over 8 weeks. The Activity Engagement group (AE; "experiential" BA) encouraged engagement in positive activities within session only. Both BA groups were compared to an 8-week Waitlist group (WL). The primary outcomes, feasibility and acceptability, were assessed via recruitment, retention, attendance, and qualitative feedback on groups. The secondary outcome, potential efficacy, was assessed via blinded assessments of self-reported activity levels, depression, and anxiety (at pre- and post-intervention and 1 month follow-up) and were compared across trial arms. Data were collected in-person and remotely due to COVID-19.
    Results: N = 60 participants were randomised to AP (randomised n = 22; total n = 29), AE (randomised n = 22; total n = 28), or re-randomised following WL (total n = 16). Whether in-person or remote, AP and AE were rated as similarly enjoyable and helpful. In exploring efficacy, 58.33% of AP members had clinically meaningful activity level improvements, relative to 50% AE and 38.5% WL. Both AP and AE groups had depression reductions relative to WL, but only AP participants demonstrated anxiety reductions relative to AE and WL. AP participants noted benefits of learning strategies to increase activities and learning from other group members. AE participants valued social discussion and choice in selecting in-session activities.
    Conclusions: Both in-person and remote group BA were feasible and acceptable in ABI. Though both traditional and experiential BA may be effective, these may have different mechanisms.
    Trial registration: Clinicaltrials.gov, NCT03874650. Protocol version 2.3, May 26 2020.
    MeSH term(s) Adult ; Humans ; Acer ; Brain Injuries/therapy ; Cognitive Behavioral Therapy/methods ; Feasibility Studies ; Personal Satisfaction ; Pilot Projects
    Language English
    Publishing date 2023-11-16
    Publishing country England
    Document type Randomized Controlled Trial ; Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 2131669-7
    ISSN 1741-7015 ; 1741-7015
    ISSN (online) 1741-7015
    ISSN 1741-7015
    DOI 10.1186/s12916-023-03128-7
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  7. Book: Gorlin's syndromes of the head and neck

    Hennekam, Raoul C. / Krantz, Ian D. / Allanson, Judith E. / Gorlin, Robert J.

    (Oxford monographs on medical genetics ; 58)

    2010  

    Author's details Raoul C. M. Hennekam ; Judith E. Allanson ; Ian D. Krantz
    Series title Oxford monographs on medical genetics ; 58
    Collection
    Keywords Head / abnormalities ; Disease ; Neck / abnormalities ; Syndrome ; Terminology as Topic ; Head/Abnormalities ; Head/Diseases/Genetic aspects ; Neck/Diseases/Genetic aspects
    Subject code 617.51
    Language English
    Size LXI, 1452 S. : zahlr. Ill., 28cm
    Edition 5. ed.
    Publisher Oxford Univ. Press
    Publishing place New York
    Publishing country United States
    Document type Book
    Note Includes bibliographical references and index. - Previous ed.: published as Syndromes of the head and neck by Robert J. Gorlin, M. Michael Cohen and Raoul C.M. Hennekam. 2001
    Old title 4. Aufl. u.d.T. Gorlin, Robert J.: Syndromes of the head and neck
    HBZ-ID HT016308810
    ISBN 978-0-19-530790-0 ; 0-19-530790-9
    Database Catalogue ZB MED Medicine, Health

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  8. Article: Noonan syndrome.

    Allanson, Judith E

    American journal of medical genetics. Part C, Seminars in medical genetics

    2007  Volume 145C, Issue 3, Page(s) 274–279

    Abstract: Noonan syndrome is a common autosomal dominant condition caused by multiple genes in the RasMAPK pathway. The adult phenotype can be extremely subtle, and many adults are diagnosed only after the birth of a more obviously affected child. Whether ... ...

    Abstract Noonan syndrome is a common autosomal dominant condition caused by multiple genes in the RasMAPK pathway. The adult phenotype can be extremely subtle, and many adults are diagnosed only after the birth of a more obviously affected child. Whether diagnosis is made in childhood or adulthood, initial and ongoing evaluation of many systems can have considerable health benefits.
    MeSH term(s) Facies ; Humans ; Noonan Syndrome/diagnosis ; Noonan Syndrome/genetics ; Noonan Syndrome/psychology ; Noonan Syndrome/therapy
    Language English
    Publishing date 2007-08-15
    Publishing country United States
    Document type Journal Article ; Review
    ZDB-ID 2108622-9
    ISSN 1552-4868 ; 0148-7299
    ISSN 1552-4868 ; 0148-7299
    DOI 10.1002/ajmg.c.30138
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  9. Article ; Online: Use of eConsult to enhance genetics service delivery in primary care: A multimethod study.

    Carroll, June C / Liddy, Clare / Afkham, Amir / Keely, Erin / Goh, Elaine S / Graham, Gail E / Permaul, Joanne A / Allanson, Judith / Heisey, Ruth / Makuwaza, Tutsirai / Manca, Donna P / O'Brien, Mary Ann / Grunfeld, Eva

    Genetics in medicine : official journal of the American College of Medical Genetics

    2022  Volume 24, Issue 10, Page(s) 2034–2041

    Abstract: Purpose: Electronic consultation (eConsult) is a freely-available secure online platform connecting primary care providers (PCPs) to geneticists. Our purpose was to determine whether eConsult is effective in improving genetics service delivery in ... ...

    Abstract Purpose: Electronic consultation (eConsult) is a freely-available secure online platform connecting primary care providers (PCPs) to geneticists. Our purpose was to determine whether eConsult is effective in improving genetics service delivery in primary care.
    Methods: PCP questionnaires regarding eConsult's utility, geneticists' tracking form assessments of eConsult type and appropriateness, and geneticists' interviews on implementing eConsult were carried out.
    Results: In 2 regions of Ontario, Canada, from January 2019 to June 2020, there were 305 genetics eConsults. For 169 (55%), PCPs indicated receiving good advice for a new course of action; for 110 (36%), referral was now avoided; and for 261 (86%), eConsult was perceived valuable for patient management. Of the 131 geneticist-completed tracking forms, cancer questions were most common (68, 52%). For 63 (48%), geneticists disagreed/strongly disagreed PCPs should know the answer to the referral question. From the interview data, it was observed that geneticists described eConsult positively and suggested how it might improve access and efficiencies if integrated into genetic service delivery. Dealing with eConsults virtually could reduce waitlists, and suggesting appropriate investigations for PCPs could improve efficiencies.
    Conclusion: eConsult offers a potential solution for receiving timely genetics advice and avoiding unnecessary patient referrals, however, greater effect on access and wait times will need systematic integration into PCP and geneticist practice.
    MeSH term(s) Genetic Services ; Health Services Accessibility ; Humans ; Ontario ; Primary Health Care/methods ; Referral and Consultation ; Telemedicine/methods
    Language English
    Publishing date 2022-08-10
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 1455352-1
    ISSN 1530-0366 ; 1098-3600
    ISSN (online) 1530-0366
    ISSN 1098-3600
    DOI 10.1016/j.gim.2022.07.003
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  10. Article ; Online: Distributed harmonic patterns of structure-function dependence orchestrate human consciousness.

    Luppi, Andrea I / Vohryzek, Jakub / Kringelbach, Morten L / Mediano, Pedro A M / Craig, Michael M / Adapa, Ram / Carhart-Harris, Robin L / Roseman, Leor / Pappas, Ioannis / Peattie, Alexander R D / Manktelow, Anne E / Sahakian, Barbara J / Finoia, Paola / Williams, Guy B / Allanson, Judith / Pickard, John D / Menon, David K / Atasoy, Selen / Stamatakis, Emmanuel A

    Communications biology

    2023  Volume 6, Issue 1, Page(s) 117

    Abstract: A central question in neuroscience is how consciousness arises from the dynamic interplay of brain structure and function. Here we decompose functional MRI signals from pathological and pharmacologically-induced perturbations of consciousness into ... ...

    Abstract A central question in neuroscience is how consciousness arises from the dynamic interplay of brain structure and function. Here we decompose functional MRI signals from pathological and pharmacologically-induced perturbations of consciousness into distributed patterns of structure-function dependence across scales: the harmonic modes of the human structural connectome. We show that structure-function coupling is a generalisable indicator of consciousness that is under bi-directional neuromodulatory control. We find increased structure-function coupling across scales during loss of consciousness, whether due to anaesthesia or brain injury, capable of discriminating between behaviourally indistinguishable sub-categories of brain-injured patients, tracking the presence of covert consciousness. The opposite harmonic signature characterises the altered state induced by LSD or ketamine, reflecting psychedelic-induced decoupling of brain function from structure and correlating with physiological and subjective scores. Overall, connectome harmonic decomposition reveals how neuromodulation and the network architecture of the human connectome jointly shape consciousness and distributed functional activation across scales.
    MeSH term(s) Humans ; Consciousness/physiology ; Brain/physiology ; Hallucinogens/pharmacology ; Connectome ; Magnetic Resonance Imaging
    Chemical Substances Hallucinogens
    Language English
    Publishing date 2023-01-28
    Publishing country England
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ISSN 2399-3642
    ISSN (online) 2399-3642
    DOI 10.1038/s42003-023-04474-1
    Database MEDical Literature Analysis and Retrieval System OnLINE

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