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  1. Article ; Online: Protecting the rare during a rare pandemic.

    Baynam, Gareth S / Wicking, Carol / Bhattacharya, Kaustuv / Millis, Nicole

    The Medical journal of Australia

    2020  Volume 213, Issue 2, Page(s) 94–94.e1

    MeSH term(s) Australia ; Betacoronavirus ; COVID-19 ; Coronavirus Infections ; Health Personnel ; Humans ; Pandemics ; Pneumonia, Viral ; Rare Diseases ; SARS-CoV-2 ; Societies, Medical
    Keywords covid19
    Language English
    Publishing date 2020-06-22
    Publishing country Australia
    Document type Letter
    ZDB-ID 186082-3
    ISSN 1326-5377 ; 0025-729X
    ISSN (online) 1326-5377
    ISSN 0025-729X
    DOI 10.5694/mja2.50671
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    Ua VI Zs.398: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 2021: Bestellungen von Artikeln über das Online-Bestellformular
    ab Jg. 2022: Lesesaal (EG)

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  2. Article ; Online: The risk of major structural birth defects associated with seasonal influenza vaccination during pregnancy: A population-based cohort study.

    Sarna, Mohinder / Pereira, Gavin F / Foo, Damien / Baynam, Gareth S / Regan, Annette K

    Birth defects research

    2022  Volume 114, Issue 19, Page(s) 1244–1256

    Abstract: Introduction: Seasonal inactivated influenza vaccine (IIV) is routinely recommended during pregnancy to protect both mothers and infants from complications following influenza infection. While previous studies have evaluated the risk of major structural ...

    Abstract Introduction: Seasonal inactivated influenza vaccine (IIV) is routinely recommended during pregnancy to protect both mothers and infants from complications following influenza infection. While previous studies have evaluated the risk of major structural birth defects in infants associated with prenatal administration of monovalent pandemic IIV, fewer studies have evaluated the risk associated with prenatal seasonal IIV.
    Methods: We conducted a population-based cohort study of 125,866 singleton births between 2012 and 2016 in Western Australia. Birth registrations were linked to the state's registers for congenital anomalies and a state prenatal vaccination database. We estimated prevalence ratios (PR) of any major structural birth defect and defects by organ system. Vaccinated pregnancies were defined as those with a record of IIV in the first trimester. Inverse probability treatment weighting factored for baseline probability for vaccination. A Bonferroni correction was applied to account for multiple comparisons.
    Results: About 3.9% of births had a major structural birth defect. Seasonal IIV exposure during the first trimester was not associated with diagnosis of any major structural birth defect diagnosed within 1 month of birth (PR 0.98, 95% CI: 0.77, 1.28) or within 6 years of life (PR 1.02, 95% CI: 0.78, 1.35). We identified no increased risk in specific birth defects associated with seasonal IIV.
    Conclusion: Based on registry data for up to 6 years of follow-up, results suggest there is no association between maternal influenza vaccination and risk of major structural birth defects. These results support the safety of seasonal IIV administration during pregnancy.
    MeSH term(s) Infant ; Pregnancy ; Female ; Humans ; Influenza, Human/prevention & control ; Cohort Studies ; Seasons ; Influenza Vaccines/toxicity ; Vaccination
    Chemical Substances Influenza Vaccines
    Language English
    Publishing date 2022-06-09
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 2104792-3
    ISSN 2472-1727
    ISSN (online) 2472-1727
    DOI 10.1002/bdr2.2049
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    Zs.A 749: Show issues Location:
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    Jg. 1995 - 2021: Lesesall (1.OG)
    ab Jg. 2022: Lesesaal (EG)

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  3. Article ; Online: CRISPR-Cas9-generated PTCHD1 2489T>G stem cells recapitulate patient phenotype when undergoing neural induction.

    Farley, Kathryn O / Forbes, Catherine A / Shaw, Nicole C / Kuzminski, Emma / Ward, Michelle / Baynam, Gareth / Lassmann, Timo / Fear, Vanessa S

    HGG advances

    2023  Volume 5, Issue 1, Page(s) 100257

    Abstract: An estimated 3.5%-5.9% of the global population live with rare diseases, and approximately 80% of these diseases have a genetic cause. Rare genetic diseases are difficult to diagnose, with some affected individuals experiencing diagnostic delays of 5-30 ... ...

    Abstract An estimated 3.5%-5.9% of the global population live with rare diseases, and approximately 80% of these diseases have a genetic cause. Rare genetic diseases are difficult to diagnose, with some affected individuals experiencing diagnostic delays of 5-30 years. Next-generation sequencing has improved clinical diagnostic rates to 33%-48%. In a majority of cases, novel variants potentially causing the disease are discovered. These variants require functional validation in specialist laboratories, resulting in a diagnostic delay. In the interim, the finding is classified as a genetic variant of uncertain significance (VUS) and the affected individual remains undiagnosed. A VUS (PTCHD1 c. 2489T>G) was identified in a child with autistic behavior, global developmental delay, and hypotonia. Loss of function mutations in PTCHD1 are associated with autism spectrum disorder and intellectual disability; however, the molecular function of PTCHD1 and its role in neurodevelopmental disease is unknown. Here, we apply CRISPR gene editing and induced pluripotent stem cell (iPSC) neural disease modeling to assess the variant. During differentiation from iPSCs to neural progenitors, we detect subtle but significant gene signatures in synaptic transmission and muscle contraction pathways. Our work supports the causal link between the genetic variant and the child's phenotype, providing evidence for the variant to be considered a pathogenic variant according to the American College of Medical Genetics and Genomics guidelines. In addition, our study provides molecular data on the role of PTCHD1 in the context of other neurodevelopmental disorders.
    MeSH term(s) Child ; Humans ; Autism Spectrum Disorder/diagnosis ; CRISPR-Cas Systems/genetics ; Delayed Diagnosis ; Phenotype ; Stem Cells/metabolism ; Membrane Proteins/genetics
    Chemical Substances PTCHD1 protein, human ; Membrane Proteins
    Language English
    Publishing date 2023-11-24
    Publishing country United States
    Document type Journal Article
    ISSN 2666-2477
    ISSN (online) 2666-2477
    DOI 10.1016/j.xhgg.2023.100257
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  4. Article ; Online: The need for genetic studies of Indigenous Australians.

    Baynam, Gareth S

    The Medical journal of Australia

    2011  Volume 196, Issue 5, Page(s) 313

    MeSH term(s) Australia ; Genetic Predisposition to Disease/ethnology ; Genetic Research ; Genetic Testing ; Healthcare Disparities/ethnology ; Humans ; Oceanic Ancestry Group/genetics ; Population Groups
    Language English
    Publishing date 2011-03-28
    Publishing country Australia
    Document type Letter
    ZDB-ID 186082-3
    ISSN 1326-5377 ; 0025-729X
    ISSN (online) 1326-5377
    ISSN 0025-729X
    DOI 10.5694/mja11.11459
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Ua VI Zs.398: Show issues Location:
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  5. Article ; Online: Birth prevalence of congenital heart defects in Western Australia, 1990-2016.

    Hansen, Michele / Greenop, Kathryn / Yim, Deane / Ramsay, James / Thomas, Yarlalu / Baynam, Gareth S

    Journal of paediatrics and child health

    2021  Volume 57, Issue 10, Page(s) 1672–1680

    Abstract: Aim: To describe the birth prevalence and characteristics of congenital heart defects in a geographically defined Australian population.: Methods: This descriptive, population-based study examined congenital heart defects in live births, stillbirths ... ...

    Abstract Aim: To describe the birth prevalence and characteristics of congenital heart defects in a geographically defined Australian population.
    Methods: This descriptive, population-based study examined congenital heart defects in live births, stillbirths and pregnancy terminations ascertained by the Western Australian Register of Developmental Anomalies, 1990-2016. Birth prevalence (per 1000 births) was stratified by severity, known cause, maternal and birth characteristics, and primary diagnosis; and prevalence ratios were calculated for Aboriginal versus non-Aboriginal births. Temporal trends in prevalence, diagnosis age and infant mortality were examined.
    Results: For births 1990-2010 (allowing 6 years for complete case ascertainment by 2016), 6419 cases were identified; prevalence was 11.5 per 1000 births (95% confidence interval (CI), 11.2-11.8). Severe defects were ascertained in 2.5 per 1000 births (95% CI 2.4-2.7). Most cases were liveborn (5842, 91.0%), and 28.9% had other birth defects. Prevalence was slightly higher in Aboriginal births (prevalence ratio 1.1; 95% CI 1.0-1.2); and the infant mortality rate more than doubled (13.4% vs. 5.8%, P < 0.001). Prenatal diagnosis increased over time but, in remote areas, was significantly lower for Aboriginal versus non-Aboriginal cases (3.1% vs. 9.3%; P = 0.008). A cause was identified in 920 cases (14.3%), more often for severe defects (347, 24.4%); 63% of known causes were rare diseases. Congenital heart defects associated with fetal alcohol spectrum disorder were much more common in Aboriginal births (prevalence ratio 82; 95% CI 28-239).
    Conclusions: Earlier detection of congenital heart defects and improved survival has occurred over time, although discrepancies between ethnic groups and regions warrant further investigation and strategic action.
    MeSH term(s) Australia ; Female ; Heart Defects, Congenital/epidemiology ; Humans ; Infant ; Pregnancy ; Prenatal Diagnosis ; Prevalence ; Western Australia/epidemiology
    Language English
    Publishing date 2021-05-29
    Publishing country Australia
    Document type Journal Article
    ZDB-ID 1024476-1
    ISSN 1440-1754 ; 1034-4810
    ISSN (online) 1440-1754
    ISSN 1034-4810
    DOI 10.1111/jpc.15592
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    Zs.A 227: 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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  6. Article ; Online: 3D facial analysis for rare disease diagnosis and treatment monitoring: Proof-Of-Concept plan for hereditary angioedema.

    Jamuar, Saumya / Palmer, Richard / Dawkins, Hugh / Lee, Dae-Wook / Helmholz, Petra / Baynam, Gareth

    PLOS digital health

    2023  Volume 2, Issue 3, Page(s) e0000090

    Abstract: Rare diseases pose a diagnostic conundrum to even the most experienced clinicians around the world. The technology could play an assistive role in hastening the diagnosis process. Data-driven methodologies can identify distinctive disease features and ... ...

    Abstract Rare diseases pose a diagnostic conundrum to even the most experienced clinicians around the world. The technology could play an assistive role in hastening the diagnosis process. Data-driven methodologies can identify distinctive disease features and create a definitive diagnostic spectrum. The healthcare professionals in developed and developing nations would benefit immensely from these approaches resulting in quicker diagnosis and enabling early care for the patients. Hereditary Angioedema is one such rare disease that requires a lengthy diagnostic cascade ensuing massive patient inconvenience and cost burden on the healthcare system. It is hypothesized that facial analysis with advanced imaging and algorithmic association can create an ideal diagnostic peer to the clinician while assimilating signs and symptoms in the hospital. 3D photogrammetry has been applied to diagnose rare diseases in various cohorts. The facial features are captured at a granular level in utmost finer detail. A validated and proven algorithm-powered software provides recommendations in real-time. Thus, paving the way for quick and early diagnosis to well-trained or less trained clinicians in different settings around the globe. The generated evidence indicates the strong applicability of 3 D photogrammetry in association with proprietary Cliniface software to Hereditary Angioedema for aiding in the diagnostic process. The approach, mechanism, and beneficial impact have been sketched out appropriately herein. This blueprint for hereditary angioedema may have far-reaching consequences beyond disease diagnosis to benefit all the stakeholders in the healthcare arena including research and new drug development.
    Language English
    Publishing date 2023-03-22
    Publishing country United States
    Document type Journal Article
    ISSN 2767-3170
    ISSN (online) 2767-3170
    DOI 10.1371/journal.pdig.0000090
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  8. Book ; Online: Protecting the rare during a rare pandemic

    Baynam, Gareth S / Wicking, Carol / Bhattacharya, Kaustuv / Millis, Nicole

    2020  

    Keywords COVID-19 ; Coronavirus ; covid19
    Language English
    Publishing country au
    Document type Book ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  9. Article ; Online: Gene editing and cardiac disease modelling for the interpretation of genetic variants of uncertain significance in congenital heart disease.

    Fear, Vanessa S / Forbes, Catherine A / Shaw, Nicole C / Farley, Kathryn O / Mantegna, Jessica L / Htun, Jasmin P / Syn, Genevieve / Viola, Helena / Cserne Szappanos, Henrietta / Hool, Livia / Ward, Michelle / Baynam, Gareth / Lassmann, Timo

    Stem cell research & therapy

    2023  Volume 14, Issue 1, Page(s) 345

    Abstract: Background: Genomic sequencing in congenital heart disease (CHD) patients often discovers novel genetic variants, which are classified as variants of uncertain significance (VUS). Functional analysis of each VUS is required in specialised laboratories, ... ...

    Abstract Background: Genomic sequencing in congenital heart disease (CHD) patients often discovers novel genetic variants, which are classified as variants of uncertain significance (VUS). Functional analysis of each VUS is required in specialised laboratories, to determine whether the VUS is disease causative or not, leading to lengthy diagnostic delays. We investigated stem cell cardiac disease modelling and transcriptomics for the purpose of genetic variant classification using a GATA4 (p.Arg283Cys) VUS in a patient with CHD.
    Methods: We performed high efficiency CRISPR gene editing with homology directed repair in induced pluripotent stem cells (iPSCs), followed by rapid clonal selection with amplicon sequencing. Genetic variant and healthy matched control cells were compared using cardiomyocyte disease modelling and transcriptomics.
    Results: Genetic variant and healthy cardiomyocytes similarly expressed Troponin T (cTNNT), and GATA4. Transcriptomics analysis of cardiomyocyte differentiation identified changes consistent with the patient's clinical human phenotype ontology terms. Further, transcriptomics revealed changes in calcium signalling, and cardiomyocyte adrenergic signalling in the variant cells. Functional testing demonstrated, altered action potentials in GATA4 genetic variant cardiomyocytes were consistent with patient cardiac abnormalities.
    Conclusions: This work provides in vivo functional studies supportive of a damaging effect on the gene or gene product. Furthermore, we demonstrate the utility of iPSCs, CRISPR gene editing and cardiac disease modelling for genetic variant interpretation. The method can readily be applied to other genetic variants in GATA4 or other genes in cardiac disease, providing a centralised assessment pathway for patient genetic variant interpretation.
    MeSH term(s) Humans ; Gene Editing ; Heart Defects, Congenital/genetics ; Heart Defects, Congenital/metabolism ; Myocytes, Cardiac/metabolism ; Base Sequence ; Signal Transduction
    Language English
    Publishing date 2023-12-05
    Publishing country England
    Document type Journal Article
    ZDB-ID 2548671-8
    ISSN 1757-6512 ; 1757-6512
    ISSN (online) 1757-6512
    ISSN 1757-6512
    DOI 10.1186/s13287-023-03592-1
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  10. Article: SMART Work Design: Accelerating the Diagnosis of Rare Diseases in the Western Australian Undiagnosed Diseases Program.

    Hay, Georgia J / Klonek, Florian E / Thomas, Cati S / Bauskis, Alicia / Baynam, Gareth / Parker, Sharon K

    Frontiers in pediatrics

    2020  Volume 8, Page(s) 582

    Abstract: The accurate and efficient diagnosis of rare diseases, many of which include congenital anomalies, depends largely on the specialists who diagnose them - including their ability to work alongside specialists from other fields and to take full advantage ... ...

    Abstract The accurate and efficient diagnosis of rare diseases, many of which include congenital anomalies, depends largely on the specialists who diagnose them - including their ability to work alongside specialists from other fields and to take full advantage of cutting-edge precision medicine technologies and precision public health approaches. However, highly specialized clinicians operating within a historically-siloed healthcare system is antithetical to the multi-disciplinary, collaborative, and creative approach that facilitates the diagnosis of rare diseases. The Western Australian Undiagnosed Diseases Program (UDP-WA) successfully re-designed the work of the involved clinicians to facilitate teamworking across silos. To understand the effectiveness of the Western Australian program, we draw on a SMART work design perspective (i.e., work that involves Stimulation, Mastery, Agency, Relations, and Tolerable demands). We propose that the redesign was successful in part because it improved crucial psychosocial work characteristics that are less prevalent in the broader work system, as identified in the SMART model. Based on the effectiveness of UDP-WA and its SMART design, we provide a framework that clinicians, healthcare managers, and policymakers can consider when they re-design work so that they can create SMART jobs within healthcare.
    Language English
    Publishing date 2020-09-18
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 2711999-3
    ISSN 2296-2360
    ISSN 2296-2360
    DOI 10.3389/fped.2020.00582
    Database MEDical Literature Analysis and Retrieval System OnLINE

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