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  • 1
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    Online Resource
    Phenotypic characterization of seven individuals with Marbach–Schaaf neurodevelopmental syndrome
    Wiley ; 2022
    In:  American Journal of Medical Genetics Part A Vol. 188, No. 9 ( 2022-09), p. 2627-2636
    Details
    In: American Journal of Medical Genetics Part A, Wiley, Vol. 188, No. 9 ( 2022-09), p. 2627-2636
    Abstract: We present the phenotypes of seven previously unreported patients with Marbach–Schaaf neurodevelopmental syndrome, all carrying the same recurrent heterozygous missense variant c.1003C 〉 T (p.Arg335Trp) in PRKAR1B . Clinical features of this cohort include global developmental delay and reduced sensitivity to pain, as well as behavioral anomalies. Only one of the seven patients reported here was formally diagnosed with autism spectrum disorder (ASD), while ASD‐like features were described in others, overall indicating a lower prevalence of ASD in Marbach–Schaaf neurodevelopmental syndrome than previously assumed. The clinical spectrum of the current cohort is similar to that reported in the initial publication, delineating a complex developmental disorder with behavioral and neurologic features. PRKAR1B encodes the regulatory subunit R1β of the protein kinase A complex (PKA), and is expressed in the adult and embryonal central nervous system in humans. PKA is crucial to a plethora of cellular signaling pathways, and its composition of different regulatory and catalytic subunits is cell‐type specific. We discuss potential molecular disease mechanisms underlying the patients' phenotypes with respect to the different known functions of PKA in neurons, and the phenotypes of existing R1β‐deficient animal models.
    Type of Medium: Online Resource
    ISSN: 1552-4825 , 1552-4833
    URL: Issue
    URL: Article
    DOI: 10.1002/ajmg.a.v188.9
    DOI: 10.1002/ajmg.a.62884
    Language: English
    Publisher: Wiley
    Publication Date: 2022
    detail.hit.zdb_id: 1493479-6
    SSG: 12
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  • 2
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    Functionally Relevant Maculopathy and Optic Atrophy in Spinocerebellar Ataxia Type 1
    Wiley ; 2020
    In:  Movement Disorders Clinical Practice Vol. 7, No. 5 ( 2020-07), p. 502-508
    Details
    In: Movement Disorders Clinical Practice, Wiley, Vol. 7, No. 5 ( 2020-07), p. 502-508
    Abstract: Spinocerebellar ataxia type 1 (SCA‐ATXN1) is an inherited progressive ataxia disorder characterized by an adult‐onset cerebellar syndrome combined with nonataxia signs. Retinal or optic nerve affection are not systematically described. Objectives To describe a retinal phenotype and its functional relevance in SCA‐ATXN1. Methods We applied optical coherence tomography (OCT) in 20 index cases with SCA‐ATXN1 and 22 healthy controls (HCs), investigating qualitative changes and quantifying the peripapillary retinal nerve fiber layer (pRNFL) thickness and combined ganglion cell and inner plexiform layer (GCIP) volume as markers of optic atrophy and outer retinal layers as markers of maculopathy. Visual function was assessed by high‐ (HC‐VA) and low‐contrast visual acuity (LC‐VA) and the Hardy‐Rand‐Rittler pseudoisochromatic test for color vision. Results Five patients (25%) showed distinct maculopathies in the ellipsoid zone (EZ). Furthermore, pRNFL ( P   〈  0.001) and GCIP ( P = 0.002) were reduced in patients (pRNFL, 80.86 ± 9.49 μm; GCIP, 1.84 ± 0.16 mm 3 ) compared with HCs (pRNFL, 97.02 ± 8.34 μm; GCIP, 1.98 ± 0.12 mm 3 ). Outer macular layers were similar between groups, but reduced in patients with maculopathies. HC‐VA ( P = 0.002) and LC‐VA ( P   〈  0.001) were reduced in patients (HC‐VA [logMAR]: 0.01 ± 010; LC‐VA [logMAR] : 0.44 ± 0.16) compared with HCs (HC‐VA [logMAR]: –0.12 ± 0.08; LC‐VA [logMAR] : 0.25 ± 0.05). Color vision was abnormal in 2 patients with maculopathies. Conclusions A distinct maculopathy, termed EZ disruption, as well as optic atrophy add to the known nonataxia features in SCA‐ATXN1. Whereas optic atrophy may be understood as part of a widespread neurodegeneration, EZ disruption may be explained by effects of ataxin‐1 gene or protein on photoreceptors. Our findings extend the spectrum of nonataxia signs in SCA‐ATXN1 with potential relevance for diagnosis and monitoring.
    Type of Medium: Online Resource
    ISSN: 2330-1619 , 2330-1619
    URL: Issue
    URL: Article
    DOI: 10.1002/mdc3.v7.5
    DOI: 10.1002/mdc3.12949
    Language: English
    Publisher: Wiley
    Publication Date: 2020
    detail.hit.zdb_id: 2772809-2
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  • 3
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    Online Resource
    Potential Scenarios and Hazards in the Work of the Future: A Systematic Review of the Peer-Reviewed and Gray Literatures
    Oxford University Press (OUP) ; 2020
    In:  Annals of Work Exposures and Health Vol. 64, No. 8 ( 2020-10-08), p. 786-816
    Details
    In: Annals of Work Exposures and Health, Oxford University Press (OUP), Vol. 64, No. 8 ( 2020-10-08), p. 786-816
    Abstract: It would be useful for researchers, practitioners, and decision-makers to anticipate the hazards that workers will face in the future. The focus of this study is a systematic review of published information to identify and characterize scenarios and hazards in the future of work. Eleven bibliographic databases were systematically searched for papers and reports published from 1999 to 2019 that described future of work scenarios or identified future work-related hazards. To compile a comprehensive collection of views of the future, supplemental and ad hoc searches were also performed. After screening all search records against a set of predetermined criteria, the review yielded 36 references (17 peer-reviewed, 4 gray, and 15 supplemental) containing scenarios. In these, the future of work was described along multiple conceptual axes (e.g. labor market changes, societal values, and manual versus cognitive work). Technology was identified as the primary driver of the future of work in most scenarios, and there were divergent views in the literature as to whether technology will create more or fewer jobs than it displaces. Workforce demographics, globalization, climate change, economic conditions, and urbanization were also mentioned as influential factors. Other important themes included human enhancement, social isolation, loneliness, worker monitoring, advanced manufacturing, hazardous exposures, sustainability, biotechnology, and synthetic biology. Pandemics have not been widely considered in the future of work literature, but the recent COVID-19 pandemic illustrates that was short-sighted. Pandemics may accelerate future of work trends and merit critical consideration in scenario development. Many scenarios described ‘new’ or ‘exacerbated’ psychosocial hazards of work, whereas comparatively fewer discussed physical, chemical, or biological hazards. Various preventive recommendations were identified. In particular, reducing stress associated with precarious work and its requirements of continual skill preparation and training was acknowledged as critical for protecting and promoting the health and well-being of the future workforce. In conclusion, the future of work will be comprised of diverse complex scenarios and a mosaic of old and new hazards. These findings may serve as the basis for considering how to shape the future of work.
    Type of Medium: Online Resource
    ISSN: 2398-7308 , 2398-7316
    URL: Article
    DOI: 10.1093/annweh/wxaa051
    Language: English
    Publisher: Oxford University Press (OUP)
    Publication Date: 2020
    detail.hit.zdb_id: 2003484-2
    detail.hit.zdb_id: 2885099-3
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  • 4
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    Online Resource
    Relationship between Changes in Thymic Emigrants and Cell-Associated HIV-1 Dna in HIV-1-Infected Children Initiating Antiretroviral Therapy
    SAGE Publications ; 2005
    In:  Antiviral Therapy Vol. 10, No. 1 ( 2005-01), p. 63-71
    Details
    In: Antiviral Therapy, SAGE Publications, Vol. 10, No. 1 ( 2005-01), p. 63-71
    Abstract: To investigate the relationship between cell-associated HIV-1 dynamics and recent thymic T-cell emigrants, HIV-1 DNA and T-cell receptor rearrangement excision circles (TREC, a marker of recent thymic emigrants) were measured in peripheral blood mononuclear cells in 181 samples from 33 HIV-1-infected children followed for 96 weeks after antiretroviral therapy (ART) initiation. Results At baseline, HIV-1 DNA was higher in children with higher TREC ( P=0.02) and was not related to age, CD4 or HIV-1 RNA in multivariate analyses ( P 〉 0.3). Overall, TREC increased and HIV-1 DNA decreased significantly after ART initiation, with faster HIV-1 DNA declines in children with higher baseline TREC ( P=0.009). The greatest decreases in HIV-1 DNA occurred in children with the smallest increases in TREC levels during ART ( P=0.002). However, this inverse relationship between changes in HIV-1 DNA and TREC tended to vary according to the phase of HIV-1 RNA decline ( P=0.13); for the same increase in TREC, HIV-1 DNA decline was much smaller during persistent or transient viraemia compared with stable HIV-1 RNA suppression. Conclusions Overall, these findings indicate that TREC levels predict HIV-1 DNA response to ART and suggest that immune repopulation by thymic emigrants adversely affects HIV-1 DNA decline in the absence of persistent viral suppression, possibly by providing a cellular source for viral infection and replication.
    Type of Medium: Online Resource
    ISSN: 1359-6535 , 2040-2058
    URL: Article
    DOI: 10.1177/135965350501000104
    Language: English
    Publisher: SAGE Publications
    Publication Date: 2005
    detail.hit.zdb_id: 2118396-X
    SSG: 15,3
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  • 5
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    Cardiac splicing as a diagnostic and therapeutic target
    Springer Science and Business Media LLC ; 2023
    In:  Nature Reviews Cardiology Vol. 20, No. 8 ( 2023-08), p. 517-530
    Details
    In: Nature Reviews Cardiology, Springer Science and Business Media LLC, Vol. 20, No. 8 ( 2023-08), p. 517-530
    Type of Medium: Online Resource
    ISSN: 1759-5002 , 1759-5010
    URL: Article
    DOI: 10.1038/s41569-022-00828-0
    Language: English
    Publisher: Springer Science and Business Media LLC
    Publication Date: 2023
    detail.hit.zdb_id: 2490378-4
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  • 6
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    Spinocerebellar ataxia type 14: refining clinicogenetic diagnosis in a rare adult‐onset disorder
    Wiley ; 2021
    In:  Annals of Clinical and Translational Neurology Vol. 8, No. 4 ( 2021-04), p. 774-789
    Details
    In: Annals of Clinical and Translational Neurology, Wiley, Vol. 8, No. 4 ( 2021-04), p. 774-789
    Abstract: Genetic variant classification is a challenge in rare adult‐onset disorders as in SCA‐PRKCG (prior spinocerebellar ataxia type 14) with mostly private conventional mutations and nonspecific phenotype. We here propose a refined approach for clinicogenetic diagnosis by including protein modeling and provide for confirmed SCA‐PRKCG a comprehensive phenotype description from a German multi‐center cohort, including standardized 3D MR imaging. Methods This cross‐sectional study prospectively obtained neurological, neuropsychological, and brain imaging data in 33 PRKCG variant carriers. Protein modeling was added as a classification criterion in variants of uncertain significance (VUS). Results Our sample included 25 cases confirmed as SCA‐PRKCG (14 variants, thereof seven novel variants) and eight carriers of variants assigned as VUS (four variants) or benign/likely benign (two variants). Phenotype in SCA‐PRKCG included slowly progressive ataxia (onset at 4–50 years), preceded in some by early‐onset nonprogressive symptoms. Ataxia was often combined with action myoclonus, dystonia, or mild cognitive‐affective disturbance. Inspection of brain MRI revealed nonprogressive cerebellar atrophy. As a novel finding, a previously not described T2 hyperintense dentate nucleus was seen in all SCA‐PRKCG cases but in none of the controls. Interpretation In this largest cohort to date, SCA‐PRKCG was characterized as a slowly progressive cerebellar syndrome with some clinical and imaging features suggestive of a developmental disorder. The observed non‐ataxia movement disorders and cognitive‐affective disturbance may well be attributed to cerebellar pathology. Protein modeling emerged as a valuable diagnostic tool for variant classification and the newly described T2 hyperintense dentate sign could serve as a supportive diagnostic marker of SCA‐PRKCG.
    Type of Medium: Online Resource
    ISSN: 2328-9503 , 2328-9503
    URL: Issue
    URL: Article
    DOI: 10.1002/acn3.v8.4
    DOI: 10.1002/acn3.51315
    Language: English
    Publisher: Wiley
    Publication Date: 2021
    detail.hit.zdb_id: 2740696-9
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  • 7
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    Neurochemical Differences in Spinocerebellar Ataxia Type 14 and 1
    Springer Science and Business Media LLC ; 2021
    In:  The Cerebellum Vol. 20, No. 2 ( 2021-04), p. 169-178
    Details
    In: The Cerebellum, Springer Science and Business Media LLC, Vol. 20, No. 2 ( 2021-04), p. 169-178
    Abstract: Autosomal-dominant spinocerebellar ataxias (SCA) are neurodegenerative diseases characterized by progressive ataxia. Here, we report on neurometabolic alterations in spinocerebellar ataxia type 1 (SCA1; SCA-ATXN1) and 14 (SCA14; SCA-PRKCG) assessed by non-invasive 1 H magnetic resonance spectroscopy. Three Tesla 1 H magnetic resonance spectroscopy was performed in 17 SCA14, 14 SCA1 patients, and in 31 healthy volunteers. We assessed metabolites in the cerebellar vermis, right cerebellar hemisphere, pons, prefrontal, and motor cortex. Additionally, clinical characteristics were obtained for each patient to correlate them with metabolites. In SCA14, metabolic changes were restricted to the cerebellar vermis compared with widespread neurochemical alterations in SCA1. In SCA14, total N-acetylaspartate (tNAA) was reduced in the vermis by 34%. In SCA1, tNAA was reduced in the vermis (24%), cerebellar hemisphere (26%), and pons (25%). SCA14 patients showed 24% lower glutamate+glutamine (Glx) and 46% lower γ-aminobutyric acid (GABA) in the vermis, while SCA1 patients showed no alterations in Glx and GABA. SCA1 revealed a decrease of aspartate (Asp) in the vermis (62%) and an elevation in the prefrontal cortex (130%) as well as an elevation of myo-inositol (Ins) in the cerebellar hemisphere (51%) and pons (46%). No changes of Asp and Ins were detected in SCA14. Beyond, glucose (Glc) was increased in the vermis of both SCA14 (155%) and SCA1 (247%). 1 H magnetic resonance spectroscopy revealed differing neurochemical profiles in SCA1 and SCA14 and confirmed metabolic changes that may be indicative for neuronal loss and dysfunctional energy metabolism. Therefore, 1 H magnetic resonance spectroscopy represents a helpful tool for in-vivo tracking of disease-specific pathophysiology.
    Type of Medium: Online Resource
    ISSN: 1473-4222 , 1473-4230
    URL: Article
    DOI: 10.1007/s12311-020-01201-y
    Language: English
    Publisher: Springer Science and Business Media LLC
    Publication Date: 2021
    detail.hit.zdb_id: 2071266-2
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