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  1. Article ; Online: Intraoperative transit-time flow measurement of caval veins before and after bidirectional cavopulmonary anastomosis.

    Arrigoni, Sara C / van der Maaten, Joost M A A / Roofthooft, Marc T R / Hoffmann, Roland F / Berger, Rolf M F / Ebels, Tjark

    Cardiology in the young

    2023  , Page(s) 1–7

    Abstract: Background: Haemodynamic changes in caval venous flow distribution occurring during bidirectional cavopulmonary anastomosis operation are still largely unknown.: Methods: Transit time flow measurements were performed in 15 cavopulmonary anastomosis ... ...

    Abstract Background: Haemodynamic changes in caval venous flow distribution occurring during bidirectional cavopulmonary anastomosis operation are still largely unknown.
    Methods: Transit time flow measurements were performed in 15 cavopulmonary anastomosis operations. Superior and inferior caval vein flows were measured before and after the cavopulmonary anastomosis. Ratio of superior caval vein to overall caval veins flow was calculated.
    Results: Mean superior caval vein flow ratio before cavopulmonary anastomosis was higher than previously reported for healthy children. Superior caval vein flow ratio decreased in 14/15 patients after cavopulmonary anastomosis: mean 0.63 ± 0.12 before versus 0.43 ± 0.14 after. No linear correlation between intraoperative superior caval vein pressure and superior caval vein flow after cavopulmonary anastomosis was found. Neither Nakata index nor pulmonary vascular resistance measured at preoperative cardiac catheterisation correlated with intraoperative flows. None of patients died or required a take down.
    Conclusions: The higher mean superior caval vein flow ratio before cavopulmonary anastomosis compared to healthy children suggests flow redistribution in univentricular physiology to protect brain and neurodevelopment. The decrease of superior caval vein flow ratio after cavopulmonary anastomosis may reflect the flow redistribution related to trans-pulmonary gradient. The lack of correlation between superior caval vein pressure and superior caval vein flow could be explained by limited sample size and multifactorial determinants of caval veins flow, although pressure remain essential. Larger sample of measurements are needed to find flow range potentially predictive for clinical failure. To authors' knowledge, this is the first intraoperative flow measurement of both caval veins during cavopulmonary operations.
    Language English
    Publishing date 2023-12-01
    Publishing country England
    Document type Journal Article
    ZDB-ID 1078466-4
    ISSN 1467-1107 ; 1047-9511
    ISSN (online) 1467-1107
    ISSN 1047-9511
    DOI 10.1017/S104795112300402X
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 4050: Show issues Location:
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  2. Article ; Online: Clinical Significance of Early Pulmonary Hypertension in Preterm Infants.

    Arjaans, Sanne / Fries, Marian W F / Schoots, Mirthe H / Schilte, Carine F M / Roofthooft, Marc T R / Vrijlandt, Elianne J L E / Bos, Arie F / Kooi, Elisabeth M W / Berger, Rolf M F

    The Journal of pediatrics

    2022  Volume 251, Page(s) 74–81.e3

    Abstract: Objective: To characterize different phenotypes of early pulmonary hypertension (PH) in preterm infants and their respective associations with bronchopulmonary dysplasia (BPD) and survival.: Study design: A prospective cohort study in a tertiary ... ...

    Abstract Objective: To characterize different phenotypes of early pulmonary hypertension (PH) in preterm infants and their respective associations with bronchopulmonary dysplasia (BPD) and survival.
    Study design: A prospective cohort study in a tertiary university medical center from June 2016 until March 2019. Infants with a gestational age <30 weeks and/or a birth weight <1000 g were included. Echocardiographic assessment for PH was performed at 3-10 days after birth. Subsequent development of BPD at 36 weeks postmenstrual age and mortality were assessed.
    Results: Early PH was identified in 55% of 104 included infants, including 21% with persistent PH of the newborn (PPHN), 61% with flow-associated PH, and 18% PH without shunt. Only PPHN was associated with placental fetal vascular malperfusion, lower gestational age, and low Apgar score. Both PPHN and flow PH were associated with the development of BPD. Early PH was associated with poorer survival, driven by PPHN.
    Conclusions: Early PH is highly prevalent (55%) in preterm infants and associated with the development of BPD, independent of the phenotype of PH. Infants with PPHN had the poorest survival. Early PH presents in various phenotypes characterized by differences in etiology, pathophysiology, and associated long-term sequelae.
    MeSH term(s) Infant, Newborn ; Humans ; Female ; Pregnancy ; Infant, Premature ; Hypertension, Pulmonary/etiology ; Hypertension, Pulmonary/complications ; Prospective Studies ; Placenta ; Bronchopulmonary Dysplasia/complications ; Bronchopulmonary Dysplasia/diagnosis ; Gestational Age
    Language English
    Publishing date 2022-08-04
    Publishing country United States
    Document type Journal Article
    ZDB-ID 3102-1
    ISSN 1097-6833 ; 0022-3476
    ISSN (online) 1097-6833
    ISSN 0022-3476
    DOI 10.1016/j.jpeds.2022.07.039
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  3. Article ; Online: The Genetic Epidemiology of Pediatric Pulmonary Arterial Hypertension.

    Haarman, Meindina G / Kerstjens-Frederikse, Wilhelmina S / Vissia-Kazemier, Theresia R / Breeman, Karel T N / Timens, Wim / Vos, Yvonne J / Roofthooft, Marc T R / Hillege, Hans L / Berger, Rolf M F

    The Journal of pediatrics

    2020  Volume 225, Page(s) 65–73.e5

    Abstract: Objective: To describe the prevalence of pulmonary arterial hypertension (PAH)-associated gene mutations, and other genetic characteristics in a national cohort of children with PAH from the Dutch National registry and to explore genotype-phenotype ... ...

    Abstract Objective: To describe the prevalence of pulmonary arterial hypertension (PAH)-associated gene mutations, and other genetic characteristics in a national cohort of children with PAH from the Dutch National registry and to explore genotype-phenotype associations and outcomes.
    Study design: Children (n = 70) diagnosed with idiopathic PAH, heritable PAH, PAH associated with congenital heart disease with coincidental shunt (PAH-congenital heart disease group 3), PAH after closure of a cardiac shunt (PAH-congenital heart disease group 4), or PAH associated with other noncardiac conditions were enrolled. Targeted next-generation sequencing was performed on PAH-associated genes (BMPR2, ACVRL1, EIF2AK4, CAV1, ENG, KCNK3, SMAD9, and TBX4). Also, children were tested for specific genetic disorders in case of clinical suspicion. Additionally, children were tested for copy number variations.
    Results: Nineteen children (27%) had a PAH-associated gene mutation/variant: BMPR2 n = 7, TBX4 n = 8, ACVRL1 n = 1, KCNK3 n = 1, and EIF2AK4 n = 2. Twelve children (17%) had a genetic disorder with an established association with PAH (including trisomy 21 and cobalamin C deficiency). In another 16 children (23%), genetic disorders without an established association with PAH were identified (including Noonan syndrome, Beals syndrome, and various copy number variations). Survival rates differed between groups and was most favorable in TBX4 variant carriers.
    Conclusions: Children with PAH show a high prevalence of genetic disorders, not restricted to established PAH-associated genes. Genetic architecture could play a role in risk-stratified care management in pediatric PAH.
    MeSH term(s) Activin Receptors, Type II/genetics ; Adolescent ; Arachnodactyly/complications ; Arachnodactyly/epidemiology ; Arachnodactyly/genetics ; Bone Morphogenetic Protein Receptors, Type II/genetics ; Child ; Child, Preschool ; Contracture/complications ; Contracture/epidemiology ; Contracture/genetics ; Down Syndrome/epidemiology ; Down Syndrome/genetics ; Female ; Gene Dosage ; Genetic Association Studies ; Genetic Predisposition to Disease ; Genetic Variation ; Heart Defects, Congenital/epidemiology ; Heart Defects, Congenital/genetics ; Humans ; Infant ; Male ; Mutation ; Nerve Tissue Proteins/genetics ; Netherlands/epidemiology ; Noonan Syndrome/complications ; Noonan Syndrome/epidemiology ; Noonan Syndrome/genetics ; Potassium Channels, Tandem Pore Domain/genetics ; Prospective Studies ; Protein-Serine-Threonine Kinases/genetics ; Pulmonary Arterial Hypertension/epidemiology ; Pulmonary Arterial Hypertension/genetics ; Registries ; T-Box Domain Proteins/genetics ; Vitamin B 12/metabolism ; Vitamin B 12 Deficiency/epidemiology ; Vitamin B 12 Deficiency/genetics
    Chemical Substances Nerve Tissue Proteins ; Potassium Channels, Tandem Pore Domain ; T-Box Domain Proteins ; TBX4 protein, human ; potassium channel subfamily K member 3 (1HQ3YCN4GS) ; EIF2AK4 protein, human (EC 2.7.11.1) ; Protein-Serine-Threonine Kinases (EC 2.7.11.1) ; ACVRL1 protein, human (EC 2.7.11.30) ; Activin Receptors, Type II (EC 2.7.11.30) ; BMPR2 protein, human (EC 2.7.11.30) ; Bone Morphogenetic Protein Receptors, Type II (EC 2.7.11.30) ; Vitamin B 12 (P6YC3EG204)
    Language English
    Publishing date 2020-06-02
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 3102-1
    ISSN 1097-6833 ; 0022-3476
    ISSN (online) 1097-6833
    ISSN 0022-3476
    DOI 10.1016/j.jpeds.2020.05.051
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  4. Article ; Online: TAB2 deletions and variants cause a highly recognisable syndrome with mitral valve disease, cardiomyopathy, short stature and hypermobility.

    Engwerda, Aafke / Leenders, Erika K S M / Frentz, Barbara / Terhal, Paulien A / Löhner, Katharina / de Vries, Bert B A / Dijkhuizen, Trijnie / Vos, Yvonne J / Rinne, Tuula / van den Berg, Maarten P / Roofthooft, Marc T R / Deelen, Patrick / van Ravenswaaij-Arts, Conny M A / Kerstjens-Frederikse, Wilhelmina S

    European journal of human genetics : EJHG

    2021  Volume 29, Issue 11, Page(s) 1669–1676

    Abstract: Deletions that include the gene TAB2 and TAB2 loss-of-function variants have previously been associated with congenital heart defects and cardiomyopathy. However, other features, including short stature, facial dysmorphisms, connective tissue ... ...

    Abstract Deletions that include the gene TAB2 and TAB2 loss-of-function variants have previously been associated with congenital heart defects and cardiomyopathy. However, other features, including short stature, facial dysmorphisms, connective tissue abnormalities and a variable degree of developmental delay, have only been mentioned occasionally in literature and thus far not linked to TAB2. In a large-scale, social media-based chromosome 6 study, we observed a shared phenotype in patients with a 6q25.1 deletion that includes TAB2. To confirm if this phenotype is caused by haploinsufficiency of TAB2 and to delineate a TAB2-related phenotype, we subsequently sequenced TAB2 in patients with matching phenotypes and recruited patients with pathogenic TAB2 variants detected by exome sequencing. This identified 11 patients with a deletion containing TAB2 (size 1.68-14.31 Mb) and 14 patients from six families with novel truncating TAB2 variants. Twenty (80%) patients had cardiac disease, often mitral valve defects and/or cardiomyopathy, 18 (72%) had short stature and 18 (72%) had hypermobility. Twenty patients (80%) had facial features suggestive for Noonan syndrome. No substantial phenotypic differences were noted between patients with deletions and those with intragenic variants. We then compared our patients to 45 patients from the literature. All literature patients had cardiac diseases, but syndromic features were reported infrequently. Our study shows that the phenotype in 6q25.1 deletions is caused by haploinsufficiency of TAB2 and that TAB2 is associated not just with cardiac disease, but also with a distinct phenotype, with features overlapping with Noonan syndrome. We propose the name "TAB2-related syndrome".
    MeSH term(s) Adaptor Proteins, Signal Transducing/genetics ; Cardiomyopathies/genetics ; Cardiomyopathies/pathology ; Chromosomes, Human, Pair 6/genetics ; Dwarfism/genetics ; Dwarfism/pathology ; Gene Deletion ; Heart Valve Diseases/genetics ; Heart Valve Diseases/pathology ; Humans ; Joint Instability/genetics ; Joint Instability/pathology ; Mitral Valve/pathology ; Phenotype ; Syndrome
    Chemical Substances Adaptor Proteins, Signal Transducing ; TAB2 protein, human
    Language English
    Publishing date 2021-08-30
    Publishing country England
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 1141470-4
    ISSN 1476-5438 ; 1018-4813
    ISSN (online) 1476-5438
    ISSN 1018-4813
    DOI 10.1038/s41431-021-00948-0
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    In stock of ZB MED Cologne/Königswinter

    Zs.A 3589: Show issues Location:
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    Jg. 1995 - 2021: Lesesall (2.OG)
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  5. Article ; Online: Large neonatal thoracoabdominal aneurysm: case report and review of the literature.

    Buddingh, K Tim / Zeebregts, Clark J / Tilanus, Martijn E C / Roofthooft, Marc T R / Broens, Paul M A

    Journal of pediatric surgery

    2008  Volume 43, Issue 7, Page(s) 1361–1364

    Abstract: We present a neonate with a large saccular aneurysm of the thoracoabdominal aorta, extending from the intrathoracic aorta to the left common iliac artery. No underlying cause could be identified. Despite an early diagnosis, the aneurysm was deemed ... ...

    Abstract We present a neonate with a large saccular aneurysm of the thoracoabdominal aorta, extending from the intrathoracic aorta to the left common iliac artery. No underlying cause could be identified. Despite an early diagnosis, the aneurysm was deemed inoperable because of the lengthy involvement and the frail aspect of all visceral arteries. A review of the literature on congenital abdominal aortic aneurysm in infants was conducted. Eleven cases of live-born infants with a congenital abdominal aortic aneurysm have previously been published. None of them involved as large a part of the thoracic and abdominal aorta as the case presented here.
    MeSH term(s) Aortic Aneurysm, Thoracic/diagnostic imaging ; Aortic Aneurysm, Thoracic/surgery ; Humans ; Infant, Newborn ; Male ; Tomography, X-Ray Computed
    Language English
    Publishing date 2008-07
    Publishing country United States
    Document type Case Reports ; Journal Article ; Review
    ZDB-ID 80165-3
    ISSN 1531-5037 ; 0022-3468
    ISSN (online) 1531-5037
    ISSN 0022-3468
    DOI 10.1016/j.jpedsurg.2008.02.008
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