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  1. Artikel: Risk of Preterm Birth among Secundiparas with a Previous Cesarean due to a Failed Vacuum Delivery.

    Helman, Sarit / Mahajna, Muhammad / Ehrlich, Zvi / Ratner, Miri / Grisaru-Granovsky, Sorina / Reichman, Orna

    Journal of clinical medicine

    2023  Band 12, Heft 23

    Abstract: Background: Studies have found an association between second-stage cesarean sections (SSCSs) and subsequent preterm birth (PTB). We aimed to evaluate if secundiparas with previous second-stage cesarean sections due to a failed vacuum delivery (SSCS-F-VD) ...

    Abstract Background: Studies have found an association between second-stage cesarean sections (SSCSs) and subsequent preterm birth (PTB). We aimed to evaluate if secundiparas with previous second-stage cesarean sections due to a failed vacuum delivery (SSCS-F-VD) are associated with PTB in the subsequent delivery compared with secundiparas with previous spontaneous vaginal birth (SVB) at term. A secondary aim was to compare this association with secundiparas with a previous SSCS at term.
    Methods: A historical, prospective, longitudinal cohort study was conducted in a large tertiary university hospital between 2006 and 2019. Matched mothers who experienced first and second births at the indexed hospital, excluding those with a previous miscarriage or multiple pregnancy in either the first or second birth were grouped based on the mode of delivery and gestational week of the first birth.
    Results: Parturients with term SVB and term SSCSs were less likely to experience PTB in the following delivery compared with those who underwent an SSCS-F-VD, with 496/14,551 (3.4%) versus 6/160 (3.8%) versus 5/61 (8.2%), respectively, at
    Conclusion: Previous SSCS-F-VD is associated with PTB in the following delivery, offering valuable insights for pregnancy management and patient counseling.
    Sprache Englisch
    Erscheinungsdatum 2023-11-28
    Erscheinungsland Switzerland
    Dokumenttyp Journal Article
    ZDB-ID 2662592-1
    ISSN 2077-0383
    ISSN 2077-0383
    DOI 10.3390/jcm12237358
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  2. Artikel: A novel mutation of the CLN8 gene: is there a Mediterranean phenotype?

    Zelnik, Nathanel / Mahajna, Muhammad / Iancu, Theodore C / Sharony, Reuven / Zeigler, Marsha

    Pediatric neurology

    2007  Band 36, Heft 6, Seite(n) 411–413

    Abstract: We report the first known case in Israel of a patient with an early childhood onset of ceroid-lipofuscinosis who is homozygous to a mutation of the CLN8 gene. This patient further expands the clinical varieties of CLN8, initially reported in Finland and ... ...

    Abstract We report the first known case in Israel of a patient with an early childhood onset of ceroid-lipofuscinosis who is homozygous to a mutation of the CLN8 gene. This patient further expands the clinical varieties of CLN8, initially reported in Finland and Turkey and recently in Italy. The ultrastructural pathology of a skin biopsy specimen revealed abundant typical fingerprint profiles, but rare granular osmiophilic bodies and curvilinear structures. Sequencing of exon 3 of the CLN8 gene revealed a novel C>G missense mutation at a conserved amino acid glutamine 256 to glutamic acid. Our findings further raise the possibility of the existence of a Mediterranean CLN8 variant.
    Mesh-Begriff(e) Child, Preschool ; Epithelial Cells/pathology ; Epithelial Cells/ultrastructure ; Homozygote ; Humans ; Israel ; Male ; Mediterranean Region ; Membrane Proteins/genetics ; Microscopy, Electron ; Mutation, Missense ; Neuronal Ceroid-Lipofuscinoses/genetics ; Neuronal Ceroid-Lipofuscinoses/pathology ; Phenotype
    Chemische Substanzen CLN8 protein, human ; Membrane Proteins
    Sprache Englisch
    Erscheinungsdatum 2007-06
    Erscheinungsland United States
    Dokumenttyp Case Reports ; Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 639164-3
    ISSN 1873-5150 ; 0887-8994
    ISSN (online) 1873-5150
    ISSN 0887-8994
    DOI 10.1016/j.pediatrneurol.2007.01.008
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  3. Artikel ; Online: Infantile cerebellar-retinal degeneration associated with a mutation in mitochondrial aconitase, ACO2.

    Spiegel, Ronen / Pines, Ophry / Ta-Shma, Asaf / Burak, Efrat / Shaag, Avraham / Halvardson, Jonatan / Edvardson, Shimon / Mahajna, Muhammad / Zenvirt, Shamir / Saada, Ann / Shalev, Stavit / Feuk, Lars / Elpeleg, Orly

    American journal of human genetics

    2012  Band 90, Heft 3, Seite(n) 518–523

    Abstract: Degeneration of the cerebrum, cerebellum, and retina in infancy is part of the clinical spectrum of lysosomal storage disorders, mitochondrial respiratory chain defects, carbohydrate glycosylation defects, and infantile neuroaxonal dystrophy. We studied ... ...

    Abstract Degeneration of the cerebrum, cerebellum, and retina in infancy is part of the clinical spectrum of lysosomal storage disorders, mitochondrial respiratory chain defects, carbohydrate glycosylation defects, and infantile neuroaxonal dystrophy. We studied eight individuals from two unrelated families who presented at 2-6 months of age with truncal hypotonia and athetosis, seizure disorder, and ophthalmologic abnormalities. Their course was characterized by failure to acquire developmental milestones and culminated in profound psychomotor retardation and progressive visual loss, including optic nerve and retinal atrophy. Despite their debilitating state, the disease was compatible with survival of up to 18 years. Laboratory investigations were normal, but the oxidation of glutamate by muscle mitochondria was slightly reduced. Serial brain MRI displayed progressive, prominent cerebellar atrophy accompanied by thinning of the corpus callosum, dysmyelination, and frontal and temporal cortical atrophy. Homozygosity mapping followed by whole-exome sequencing disclosed a Ser112Arg mutation in ACO2, encoding mitochondrial aconitase, a component of the Krebs cycle. Specific aconitase activity in the individuals' lymphoblasts was severely reduced. Under restrictive conditions, the mutant human ACO2 failed to complement a yeast ACO1 deletion strain, whereas the wild-type human ACO2 succeeded, indicating that this mutation is pathogenic. Thus, a defect in mitochondrial aconitase is associated with an infantile neurodegenerative disorder affecting mainly the cerebellum and retina. In the absence of noninvasive biomarkers, determination of the ACO2 sequence or of aconitase activity in lymphoblasts are warranted in similarly affected individuals, based on clinical and neuroradiologic grounds.
    Mesh-Begriff(e) Aconitate Hydratase/genetics ; Adolescent ; Atrophy/enzymology ; Atrophy/genetics ; Cerebellum/abnormalities ; Cerebellum/enzymology ; Child ; Child, Preschool ; Exome ; Exons ; Female ; Genotype ; Glutamic Acid/metabolism ; Heterozygote ; Homozygote ; Humans ; Infant ; Magnetic Resonance Imaging/methods ; Male ; Mitochondria/enzymology ; Mitochondria/genetics ; Mutation ; Neurodegenerative Diseases/enzymology ; Neurodegenerative Diseases/genetics ; Oxidation-Reduction ; Polymorphism, Single Nucleotide ; Retina/abnormalities ; Retina/enzymology
    Chemische Substanzen Glutamic Acid (3KX376GY7L) ; ACO2 protein, human (EC 4.2.1.3) ; Aconitate Hydratase (EC 4.2.1.3)
    Sprache Englisch
    Erscheinungsdatum 2012-03-10
    Erscheinungsland United States
    Dokumenttyp Journal Article
    ZDB-ID 219384-x
    ISSN 1537-6605 ; 0002-9297
    ISSN (online) 1537-6605
    ISSN 0002-9297
    DOI 10.1016/j.ajhg.2012.01.009
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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    Verfügbar in ZB MED Köln/Königswinter

    Zs.A 107: Hefte anzeigen Standort:
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    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (1.OG)
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