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  • 1
    Online Resource
    Online Resource
    Anti-Müllerian hormone as an ovarian reserve marker in women with the most frequent muscular dystrophies
    Ovid Technologies (Wolters Kluwer Health) ; 2020
    In:  Medicine Vol. 99, No. 23 ( 2020-06-05), p. e20523-
    Details
    In: Medicine, Ovid Technologies (Wolters Kluwer Health), Vol. 99, No. 23 ( 2020-06-05), p. e20523-
    Abstract: Some muscular dystrophies may have a negative impact on fertility. A decreased ovarian reserve is 1 of the factors assumed to be involved in fertility impairment. AMH (anti-Müllerian hormone) is currently considered the best measure of ovarian reserve. A total of 21 females with myotonic dystrophy type 1 (MD1), 25 females with myotonic dystrophy type 2 (MD2), 12 females with facioscapulohumeral muscular dystrophy (FSHD), 12 female carriers of Duchenne muscular dystrophy mutations (cDMD) and 86 age-matched healthy controls of reproductive age (range 18 – 44 years) were included in this case control study. An enzymatically amplified 2-site immunoassay was used to measure serum AMH level. The MD1 group shows a significant decrease of AMH values (median 0.7 ng/mL; range 0 – 4.9 ng/mL) compared with age-matched healthy controls ( P   〈  .01). AMH levels were similar between patients and controls in terms of females with MD2 ( P  = .98), FSHD ( P  = .55) and cDMD ( P  = .60). This study suggests decreased ovarian reserve in women with MD1, but not in MD2, FSHD and cDMD.
    Type of Medium: Online Resource
    ISSN: 0025-7974 , 1536-5964
    URL: Article
    DOI: 10.1097/MD.0000000000020523
    Language: English
    Publisher: Ovid Technologies (Wolters Kluwer Health)
    Publication Date: 2020
    detail.hit.zdb_id: 2049818-4
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  • 2
    Online Resource
    Online Resource
    Two Reliable Methodical Approaches for Non-Invasive RHD Genotyping of a Fetus from Maternal Plasma
    MDPI AG ; 2020
    In:  Diagnostics Vol. 10, No. 8 ( 2020-08-05), p. 564-
    Details
    In: Diagnostics, MDPI AG, Vol. 10, No. 8 ( 2020-08-05), p. 564-
    Abstract: Noninvasive fetal RHD genotyping is an important tool for predicting RhD incompatibility between a pregnant woman and a fetus. This study aimed to assess a methodological approach other than the commonly used one for noninvasive fetal RHD genotyping on a representative set of RhD-negative pregnant women. The methodology must be accurate, reliable, and broadly available for implementation into routine clinical practice. A total of 337 RhD-negative pregnant women from the Czech Republic region were tested in this study. The fetal RHD genotype was assessed using two methods: real-time PCR and endpoint quantitative fluorescent (QF) PCR. We used exon-7-specific primers from the RHD gene, along with internal controls. Plasma samples were analyzed and measured in four/two parallel reactions to determine the accuracy of the RHD genotyping. The RHD genotype was verified using DNA analysis from a newborn buccal swab. Both methods showed an excellent ability to predict the RHD genotype. Real-time PCR achieved its greatest accuracy of 98.6% (97.1% sensitivity and 100% specificity (95% CI)) if all four PCRs were positive/negative. The QF PCR method also achieved its greatest accuracy of 99.4% (100% sensitivity and 98.6% specificity (95% CI)) if all the measurements were positive/negative. Both real-time PCR and QF PCR were reliable methods for precisely assessing the fetal RHD allele from the plasma of RhD-negative pregnant women.
    Type of Medium: Online Resource
    ISSN: 2075-4418
    URL: Article
    DOI: 10.3390/diagnostics10080564
    Language: English
    Publisher: MDPI AG
    Publication Date: 2020
    detail.hit.zdb_id: 2662336-5
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  • 3
    Online Resource
    Online Resource
    Sensory and pain modulation profiles of ongoing central neuropathic extremity pain in multiple sclerosis
    Wiley ; 2021
    In:  European Journal of Pain Vol. 25, No. 3 ( 2021-03), p. 573-594
    Details
    In: European Journal of Pain, Wiley, Vol. 25, No. 3 ( 2021-03), p. 573-594
    Abstract: Central neuropathic extremity pain (CNEP) is the most frequent type of pain in multiple sclerosis (MS). The aim of the present study was to evaluate sensory and pain modulation profiles in MS patients with CNEP. Methods In a single‐centre observational study, a group of 56 CNEP MS patients was compared with 63 pain‐free MS patients and with a sex‐ and age‐adjusted control group. Standardized quantitative sensory testing (QST) and dynamic QST (dQST) protocols comprising temporal summation and conditioned pain modulation tests were used to compare sensory profiles. Results Loss‐type QST abnormalities in both thermal and mechanical QST modalities prevailed in both MS subgroups and correlated significantly with higher degree of disability expressed as Expanded Disability Status Scale (EDSS). Comparison of sensory phenotypes disclosed a higher frequency of the ‘sensory loss’ prototypic sensory phenotype in the CNEP subgroup (30%) compared with pain‐free MS patients (6%; p  = .003). Conclusion The role of aging process and higher lesion load in the spinothalamocortical pathway might be possible explanation for pain development in this particular ‘deafferentation’ subtype of central neuropathic pain in MS. We were unable to support the role of central sensitization or endogenous facilitatory and inhibitory mechanisms in the development of CNEP in MS. Significance This article presents higher prevalence of the ‘sensory loss’ prototypic sensory phenotype in multiple sclerosis patients with central extremity neuropathic pain compared to pain‐free patients. Higher degree of disability underlines the possible role of higher lesion load in the somatosensory pathways in this particular ‘deafferentation’ type of central neuropathic pain.
    Type of Medium: Online Resource
    ISSN: 1090-3801 , 1532-2149
    URL: Issue
    URL: Article
    DOI: 10.1002/ejp.v25.3
    DOI: 10.1002/ejp.1695
    Language: English
    Publisher: Wiley
    Publication Date: 2021
    detail.hit.zdb_id: 2002493-9
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