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  1. Article ; Online: Novel presentation of AADC deficiency as a mild phenotype with exercise-induced dystonic crises

    Liene Thys / Marije Meuwissen / Katrien Janssens / Diane Beysen

    Heliyon, Vol 10, Iss 1, Pp e23746- (2024)

    A case report

    1481  

    Abstract: Aromatic l-amino acid decarboxylase (AADC) deficiency is a rare autosomal recessive neurometabolic disorder caused by biallelic pathogenic variants in the DDC gene; approximately 140 patients have been described worldwide. AADC deficiency is ... ...

    Abstract Aromatic l-amino acid decarboxylase (AADC) deficiency is a rare autosomal recessive neurometabolic disorder caused by biallelic pathogenic variants in the DDC gene; approximately 140 patients have been described worldwide. AADC deficiency is characterised by a combined deficiency of dopamine, serotonin, adrenaline and noradrenaline causing a highly variable phenotype with developmental delay, early-onset hypotonia, movement disorders and autonomic symptoms. We expand the phenotype of this neurometabolic disorder by reporting on a paediatric patient with a mild phenotype with atypical exercise-induced dystonic crises, a feature that has not been described in AADC deficiency up till now. Additionally, we also present a second patient with typical characteristics and a severe phenotype. The diagnosis in both patients was confirmed by the presence of a homozygous pathogenic variant in the DDC gene and reduced AADC enzyme plasma activity. The use of whole exome sequencing-based strategies has played a crucial role in diagnosing these two patients.
    Keywords Neurometabolic disorder ; Aromatic l-amino acid decarboxylase deficiency ; AADC ; Case report ; Exome sequencing ; Science (General) ; Q1-390 ; Social sciences (General) ; H1-99
    Subject code 610
    Language English
    Publishing date 2024-01-01T00:00:00Z
    Publisher Elsevier
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  2. Article: Novel presentation of AADC deficiency as a mild phenotype with exercise-induced dystonic crises: A case report.

    Thys, Liene / Meuwissen, Marije / Janssens, Katrien / Beysen, Diane

    Heliyon

    2023  Volume 10, Issue 1, Page(s) e23746

    Abstract: Aromatic l-amino acid decarboxylase (AADC) deficiency is a rare autosomal recessive neurometabolic disorder caused by biallelic pathogenic variants in ... ...

    Abstract Aromatic l-amino acid decarboxylase (AADC) deficiency is a rare autosomal recessive neurometabolic disorder caused by biallelic pathogenic variants in the
    Language English
    Publishing date 2023-12-16
    Publishing country England
    Document type Case Reports
    ZDB-ID 2835763-2
    ISSN 2405-8440
    ISSN 2405-8440
    DOI 10.1016/j.heliyon.2023.e23746
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article ; Online: Confirmation of gray matter heterotopia as part of the DDX23 phenotypic spectrum.

    Thys, Liene / Beysen, Diane / Jansen, Anna / Janssens, Katrien / Meuwissen, Marije

    American journal of medical genetics. Part A

    2023  Volume 191, Issue 9, Page(s) 2451–2453

    MeSH term(s) Humans ; Gray Matter/diagnostic imaging ; DEAD-box RNA Helicases
    Chemical Substances DDX23 protein, human (EC 2.7.7.-) ; DEAD-box RNA Helicases (EC 3.6.4.13)
    Language English
    Publishing date 2023-07-10
    Publishing country United States
    Document type Letter ; Research Support, Non-U.S. Gov't ; Comment
    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.63347
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    In stock of ZB MED Cologne/Königswinter

    Zs.A 1376/A: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
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    Jg. 1995 - 2021: Lesesall (1.OG)
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  4. Article ; Online: Communication skills training in advance care planning: a survey among medical students at the University of Antwerp.

    van de Wiel, Mick / Bombeke, Katrien / Janssens, Annelies

    BMC palliative care

    2022  Volume 21, Issue 1, Page(s) 154

    Abstract: Background: Palliative care (PC) is a strongly emerging discipline worldwide. Despite efforts to integrate this important topic in the medical curriculum in Belgium, still little time is spent on PC and its implementation during theoretical and ... ...

    Abstract Background: Palliative care (PC) is a strongly emerging discipline worldwide. Despite efforts to integrate this important topic in the medical curriculum in Belgium, still little time is spent on PC and its implementation during theoretical and practical training.
    Materials & methods: We had two cohorts of second master's year MD students at the University of Antwerp complete a survey compromising a custom-built PC knowledge test and a self-confidence assessment of communicative skills used in end-of-life conversations. We evaluated students' self-confidence regarding end-of-life-conversations before and after a PC training program. We also explored whether the PC classes enabled the students to adequately reflect on factors that might influence end-of-life conversations with an open-end question about the potential implications of the COVID-19 pandemic on advance care planning (ACP) conversations. Finally, we compared the results of the respondents having enjoyed face-to-face training (cohort 1) with those having received online training only (cohort 2, COVID-19 pandemic).
    Results: Although the respondents in both cohorts indicated that the overall curriculum did not pay enough attention to PC training, their average scores on the theoretical questions were good. Feeling confident about their communicative skills in general, they indicated to be less confident when it came to communications concerning PC and ACP in particular. The COVID-19 pandemic was initially equally deemed to impede and facilitate ACP and end-of-life conversations, but after the ACP training class more respondents saw the pandemic as an opportunity to broach end-of-life issues. Finally, we found no differences in scores between online and regular classroom teaching.
    Conclusion: Students experience a lack of confidence in communication skills used in end-of-life conversations and ACP. To help improve skills and competencies in conducting end-of-life conversations, it is recommended to have medical students assess PC/ACP training programs regularly and to modify the curriculum and course content based on these outcomes and current developments.
    MeSH term(s) Advance Care Planning ; COVID-19 ; Communication ; Death ; Humans ; Pandemics ; Students, Medical ; Surveys and Questionnaires
    Language English
    Publishing date 2022-08-31
    Publishing country England
    Document type Journal Article
    ZDB-ID 2091556-1
    ISSN 1472-684X ; 1472-684X
    ISSN (online) 1472-684X
    ISSN 1472-684X
    DOI 10.1186/s12904-022-01042-y
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  5. Article ; Online: Non-invasive prenatal testing detects blood chimerism in dizygotic twins.

    Janicki, Ewa / Janssens, Katrien / Blaumeiser, Bettina

    Prenatal diagnosis

    2021  Volume 42, Issue 2, Page(s) 236–239

    MeSH term(s) Adult ; Chimerism ; Female ; Humans ; Incidental Findings ; Male ; Noninvasive Prenatal Testing ; Pregnancy ; Twins, Dizygotic/genetics
    Language English
    Publishing date 2021-12-28
    Publishing country England
    Document type Case Reports ; Journal Article
    ZDB-ID 82031-3
    ISSN 1097-0223 ; 0197-3851
    ISSN (online) 1097-0223
    ISSN 0197-3851
    DOI 10.1002/pd.6082
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    In stock of ZB MED Cologne/Königswinter

    Zs.A 1625: 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: Automated antibody dispensing to improve high-parameter flow cytometry throughput and analysis.

    Bosteels, Victor / Van Duyse, Julie / Ruyssinck, Elien / Van der Borght, Katrien / Nguyen, Long / Gavel, Jannes / Janssens, Sophie / Van Isterdael, Gert

    Cytometry. Part A : the journal of the International Society for Analytical Cytology

    2024  

    Abstract: Over the past decade, the flow cytometry field has witnessed significant advancements in the number of fluorochromes that can be detected. This enables researchers to analyze more than 40 markers simultaneously on thousands of cells per second. However, ... ...

    Abstract Over the past decade, the flow cytometry field has witnessed significant advancements in the number of fluorochromes that can be detected. This enables researchers to analyze more than 40 markers simultaneously on thousands of cells per second. However, with this increased complexity and multiplicity of markers, the manual dispensing of antibodies for flow cytometry experiments has become laborious, time-consuming, and prone to errors. An automated antibody dispensing system could provide a potential solution by enhancing the efficiency, and by improving data quality by faithfully dispensing the fluorochrome-conjugated antibodies and by enabling the easy addition of extra controls. In this study, a comprehensive comparison of different liquid handlers for dispensing fluorochrome-labeled antibodies was conducted for the preparation of flow cytometry stainings. The evaluation focused on key criteria including dispensing time, dead volume, and reliability of dispensing. After benchmarking, the I.DOT, a non-contact liquid handler, was selected and optimized in more detail. In the end, the I.DOT was able to prepare a 25-marker panel in 20 min, including the full stain, all FMOs and all single stain controls for cells and beads. Having all these controls improved the validation of the panel, visualization, and analysis of the data. Thus, automated antibody dispensing by dispensers such as the I.DOT reduces time and errors, enhances data quality, and can be easily integrated in an automated workflow to prepare samples for flow cytometry.
    Language English
    Publishing date 2024-03-08
    Publishing country United States
    Document type Journal Article
    ZDB-ID 2099868-5
    ISSN 1552-4930 ; 0196-4763 ; 1552-4922
    ISSN (online) 1552-4930
    ISSN 0196-4763 ; 1552-4922
    DOI 10.1002/cyto.a.24835
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    Zs.A 1688: 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)
    Zs.MG 68: Show issues

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  7. Article: Implementation of Exome Sequencing in Prenatal Diagnostics: Chances and Challenges.

    Janicki, Ewa / De Rademaeker, Marjan / Meunier, Colombine / Boeckx, Nele / Blaumeiser, Bettina / Janssens, Katrien

    Diagnostics (Basel, Switzerland)

    2023  Volume 13, Issue 5

    Abstract: Whole exome sequencing (WES) has become part of the postnatal diagnostic work-up of both pediatric and adult patients with a range of disorders. In the last years, WES is slowly being implemented in the prenatal setting as well, although some hurdles ... ...

    Abstract Whole exome sequencing (WES) has become part of the postnatal diagnostic work-up of both pediatric and adult patients with a range of disorders. In the last years, WES is slowly being implemented in the prenatal setting as well, although some hurdles remain, such as quantity and quality of input material, minimizing turn-around times, and ensuring consistent interpretation and reporting of variants. We present the results of 1 year of prenatal WES in a single genetic center. Twenty-eight fetus-parent trios were analyzed, of which seven (25%) showed a pathogenic or likely pathogenic variant that explained the fetal phenotype. Autosomal recessive (4), de novo (2) and dominantly inherited (1) mutations were detected. Prenatal rapid WES allows for a timely decision-making in the current pregnancy, adequate counseling with the possibility of preimplantation or prenatal genetic testing in future pregnancies and screening of the extended family. With a diagnostic yield in selected cases of 25% and a turn-around time under 4 weeks, rapid WES shows promise for becoming part of pregnancy care in fetuses with ultrasound anomalies in whom chromosomal microarray did not uncover the cause.
    Language English
    Publishing date 2023-02-23
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 2662336-5
    ISSN 2075-4418
    ISSN 2075-4418
    DOI 10.3390/diagnostics13050860
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  8. Article ; Online: Implementation of Exome Sequencing in Prenatal Diagnostics

    Ewa Janicki / Marjan De Rademaeker / Colombine Meunier / Nele Boeckx / Bettina Blaumeiser / Katrien Janssens

    Diagnostics, Vol 13, Iss 860, p

    Chances and Challenges

    2023  Volume 860

    Abstract: Whole exome sequencing (WES) has become part of the postnatal diagnostic work-up of both pediatric and adult patients with a range of disorders. In the last years, WES is slowly being implemented in the prenatal setting as well, although some hurdles ... ...

    Abstract Whole exome sequencing (WES) has become part of the postnatal diagnostic work-up of both pediatric and adult patients with a range of disorders. In the last years, WES is slowly being implemented in the prenatal setting as well, although some hurdles remain, such as quantity and quality of input material, minimizing turn-around times, and ensuring consistent interpretation and reporting of variants. We present the results of 1 year of prenatal WES in a single genetic center. Twenty-eight fetus-parent trios were analyzed, of which seven (25%) showed a pathogenic or likely pathogenic variant that explained the fetal phenotype. Autosomal recessive (4), de novo (2) and dominantly inherited (1) mutations were detected. Prenatal rapid WES allows for a timely decision-making in the current pregnancy, adequate counseling with the possibility of preimplantation or prenatal genetic testing in future pregnancies and screening of the extended family. With a diagnostic yield in selected cases of 25% and a turn-around time under 4 weeks, rapid WES shows promise for becoming part of pregnancy care in fetuses with ultrasound anomalies in whom chromosomal microarray did not uncover the cause.
    Keywords prenatal diagnosis ; whole exome sequencing ; chromosomal microarray ; diagnostic yield ; congenital anomalies ; Medicine (General) ; R5-920
    Language English
    Publishing date 2023-02-01T00:00:00Z
    Publisher MDPI AG
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  9. Article ; Online: Two Pathways for the Degradation of Orpiment Pigment (As

    Broers, Fréderique T H / Janssens, Koen / Nelson Weker, Johanna / Webb, Samuel M / Mehta, Apurva / Meirer, Florian / Keune, Katrien

    Journal of the American Chemical Society

    2023  Volume 145, Issue 16, Page(s) 8847–8859

    Abstract: Paintings are complex objects containing many different chemical compounds that can react over time. The degradation of arsenic sulfide pigments causes optical changes in paintings. The main degradation product was thought to be white arsenolite ( ... ...

    Abstract Paintings are complex objects containing many different chemical compounds that can react over time. The degradation of arsenic sulfide pigments causes optical changes in paintings. The main degradation product was thought to be white arsenolite (As
    Language English
    Publishing date 2023-04-14
    Publishing country United States
    Document type Journal Article
    ZDB-ID 3155-0
    ISSN 1520-5126 ; 0002-7863
    ISSN (online) 1520-5126
    ISSN 0002-7863
    DOI 10.1021/jacs.2c12271
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Bonn / Germany

    Z 4' 55/32: Show issues
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  10. Article: Terminal deletion of chromosome 13 in a fetus with normal NIPT: The added value of invasive prenatal diagnosis in the NIPT era.

    Vervecken, Evy / Blaumeiser, Bettina / Vanderheyden, Tina / Hauspy, Jan / Janssens, Katrien

    Clinical case reports

    2020  Volume 8, Issue 8, Page(s) 1461–1466

    Abstract: In the age of noninvasive prenatal testing, there is still an important role for invasive prenatal diagnosis, even for chromosomes 13, 18, and 21. ...

    Abstract In the age of noninvasive prenatal testing, there is still an important role for invasive prenatal diagnosis, even for chromosomes 13, 18, and 21.
    Language English
    Publishing date 2020-05-13
    Publishing country England
    Document type Case Reports
    ZDB-ID 2740234-4
    ISSN 2050-0904
    ISSN 2050-0904
    DOI 10.1002/ccr3.2889
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