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  1. Book: Free radical pathophysiology

    Alvarez, Silvia

    2008  

    Author's details ed. Silvia Alvarez
    Keywords Free Radicals / adverse effects ; Oxidative Stress ; Mitochondrial Diseases / physiopathology ; Inflammation ; Neurodegenerative Diseases
    Language English
    Size 450 S. : Ill., graph. Darst.
    Publisher Transworld Research Network
    Publishing place Trivandrum
    Publishing country India
    Document type Book
    HBZ-ID HT015903862
    ISBN 978-81-7895-311-3 ; 81-7895-311-0
    Database Catalogue ZB MED Medicine, Health

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    In stock of ZB MED Cologne/Königswinter

    Shelf markLoan statusLocation
    2009 A 3699 order for loan Magazin

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  2. Article ; Online: Mitochondrial Mechanisms in Immunity and Inflammatory Conditions: Beyond Energy Management.

    Alvarez, Silvia / Vanasco, Virginia / Adán Areán, Juan Santiago / Magnani, Natalia / Evelson, Pablo

    Antioxidants & redox signaling

    2024  

    Abstract: Significance: ...

    Abstract Significance:
    Language English
    Publishing date 2024-01-24
    Publishing country United States
    Document type Journal Article
    ZDB-ID 1483836-9
    ISSN 1557-7716 ; 1523-0864
    ISSN (online) 1557-7716
    ISSN 1523-0864
    DOI 10.1089/ars.2023.0367
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    Zs.A 5488: Show issues Location:
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  3. Article ; Online: Spinocerebellar ataxia type 15 caused by missense variants in the ITPR1 gene.

    Gazulla, José / Bellosta-Diago, Elena / Izquierdo-Alvarez, Silvia / Berciano, José

    European journal of neurology

    2023  Volume 30, Issue 8, Page(s) 2539–2543

    Abstract: Background and purpose: Spinocerebellar ataxia type 15 (SCA15) is a degenerative, adult onset autosomal dominant cerebellar ataxia, caused almost exclusively by deletions in the inositol 1,4,5 triphosphate receptor type 1 (ITPR1) gene (ITPR1). ITPR1 ... ...

    Abstract Background and purpose: Spinocerebellar ataxia type 15 (SCA15) is a degenerative, adult onset autosomal dominant cerebellar ataxia, caused almost exclusively by deletions in the inositol 1,4,5 triphosphate receptor type 1 (ITPR1) gene (ITPR1). ITPR1 mediates calcium release from the endoplasmic reticulum, and particularly abounds in Purkinje cells. It plays a pivotal role in excitatory and inhibitory actions on Purkinje cells, and alterations in their balance cause cerebellar dysfunction in ITPR1 knockout mice. To date, only two single missense mutations have been reported to cause SCA15. They were considered pathogenic because cosegregation occurred with disease, and haploinsufficiency was hypothesized as their pathogenic mechanism.
    Methods: In this study, three Caucasian kindreds with different heterozygous missense variants in ITPR1 are reported. The main clinical manifestation was a slowly progressive gait ataxia with onset after 40 years of age, with chorea in two patients and hand tremor in another one, concordant with manifestations found in SCA15.
    Results: The three missense variants identified in ITPR1 were c.1594G>A; p.(Ala532Thr) in Kindred A, c.56C>T; p.(Ala19Val) in Kindred B, and c.256G>A; p.(Ala86Thr) in Kindred C. Every variant was labelled as of unknown significance; however, each one cosegregated with disease and was predicted to be pathogenic by in silico tests.
    Conclusions: The three ITPR1 missense variants found in this study exhibited cosegregation with disease, a result that sustains their pathogenicity. Further studies are needed to confirm the role of missense mutations in SCA15.
    MeSH term(s) Mice ; Animals ; Humans ; Mutation, Missense ; Inositol 1,4,5-Trisphosphate Receptors/genetics ; Spinocerebellar Ataxias/genetics ; Spinocerebellar Ataxias/pathology ; Heterozygote
    Chemical Substances Inositol 1,4,5-Trisphosphate Receptors ; ITPR1 protein, human
    Language English
    Publishing date 2023-05-19
    Publishing country England
    Document type Journal Article
    ZDB-ID 1280785-0
    ISSN 1468-1331 ; 1351-5101 ; 1471-0552
    ISSN (online) 1468-1331
    ISSN 1351-5101 ; 1471-0552
    DOI 10.1111/ene.15840
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    Zs.MO 592: Show issues

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  4. Article ; Online: Genetic paroxysmal neurological disorders featuring episodic ataxia and epilepsy (Amadori E et al., 2022).

    Gazulla, José / Izquierdo-Alvarez, Silvia / Berciano, José

    European journal of medical genetics

    2022  Volume 65, Issue 12, Page(s) 104633

    MeSH term(s) Humans ; Ataxia/genetics ; Epilepsy/genetics
    Language English
    Publishing date 2022-10-04
    Publishing country Netherlands
    Document type Letter ; Comment
    ZDB-ID 2184135-4
    ISSN 1878-0849 ; 1769-7212
    ISSN (online) 1878-0849
    ISSN 1769-7212
    DOI 10.1016/j.ejmg.2022.104633
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    Zs.A 84/9: Show issues Location:
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  5. Article ; Online: Do some addictions interfere with fertility?

    Alvarez, Silvia

    Fertility and sterility

    2015  Volume 103, Issue 1, Page(s) 22–26

    Abstract: Management of infertile couples should focus on the effects of their professional environment and quality of life, such as stress, smoking, alcohol, weight, diet, and the use of electronic devices. It should also focus on reducing these negative factors ... ...

    Abstract Management of infertile couples should focus on the effects of their professional environment and quality of life, such as stress, smoking, alcohol, weight, diet, and the use of electronic devices. It should also focus on reducing these negative factors and improving the couples' quality of life in conjunction with assisted reproduction treatments. The challenge for human reproduction now, and in the decades to come, is to introduce the concept of "ecofertility" in our practices. Early education and prevention are essential to preserve fertility.
    MeSH term(s) Alcohol Drinking/epidemiology ; Causality ; Comorbidity ; Environmental Exposure/statistics & numerical data ; Female ; Humans ; Infertility/epidemiology ; Life Style ; Male ; Marijuana Abuse/epidemiology ; Pregnancy ; Prevalence ; Risk Factors ; Smoking/epidemiology ; Stress, Psychological/epidemiology
    Language English
    Publishing date 2015-01
    Publishing country United States
    Document type Journal Article ; Review
    ZDB-ID 80133-1
    ISSN 1556-5653 ; 0015-0282
    ISSN (online) 1556-5653
    ISSN 0015-0282
    DOI 10.1016/j.fertnstert.2014.11.008
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    Zs.A 73: Show issues Location:
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  6. Article ; Online: Hyperhomocysteinemia in hypofertile male patients can be alleviated by supplementation with 5MTHF associated with one carbon cycle support.

    Clement, Arthur / Amar, Edouard / Clement, Patrice / Sedbon, Éric / Brami, Charles / Alvarez, Silvia / Menezo, Yves

    Frontiers in reproductive health

    2023  Volume 5, Page(s) 1229997

    Abstract: Introduction: Homocysteine (Hcy) is a cellular poison, side product of the hydrolysis of S-Adenosyl Homocysteine, produced after the universal methylation effector S -Adenosylmethionine liberates a methyl group to recipient targets. It inhibits the ... ...

    Abstract Introduction: Homocysteine (Hcy) is a cellular poison, side product of the hydrolysis of S-Adenosyl Homocysteine, produced after the universal methylation effector S -Adenosylmethionine liberates a methyl group to recipient targets. It inhibits the methylation processes and its rising is associated with multiple disease states and ultimately is both a cause and a consequence of oxidative stress, affecting male gametogenesis. We have determined hyper homocysteinhemia (HHcy) levels can be reliably reduced in hypofertile patients in order to decrease/avoid associated epigenetic problems and protect the health of future children, in consideration of the fact that treatment with high doses of folic acid is inappropriate.
    Methods: Homocysteine levels were screened in male patients consulting for long-standing infertility associated with at least three failed Assisted Reproductive Technology (ART) attempts and/or repeat miscarriages. Seventy-seven patients with Hcy levels > 15 µM were treated for three months with a combination of micronutrients including 5- MethylTetraHydroFolate (5-MTHF), the compound downstream to the MTHFR enzyme, to support the one carbon cycle; re-testing was performed at the end of a 3 months treatment period. Genetic status for Methylenetetrahydrofolate Reductase (MTHFR) Single nucleotide polymorphisms (SNPs) 677CT (c.6777C > T) and 1298AC (c.1298A > C) was determined.
    Results: Micronutrients/5-MTHF were highly efficient in decreasing circulating Hcy, from averages 27.4 to 10.7 µM, with a mean observed decrease of 16.7 µM. The MTHFR SNP 677TT (homozygous form) and combined heterozygous 677CT/1298AC status represent 77.9% of the patients with elevated Hcy.
    Discussion: Estimation HHcy should not be overlooked in men suffering infertility of long duration. MTHFR SNPs, especially 677TT, are a major cause of high homocysteinhemia (HHcy). In these hypofertile patients, treatment with micronutrients including 5-MTHF reduces Hcy and even allows spontaneous pregnancies post treatment. This type of therapy should be considered in order to ensure these patients' quality of life and avoid future epigenetic problems in their descendants.
    Language English
    Publishing date 2023-08-29
    Publishing country Switzerland
    Document type Journal Article
    ISSN 2673-3153
    ISSN (online) 2673-3153
    DOI 10.3389/frph.2023.1229997
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  7. Article ; Online: Water and waste remediation processes: an update.

    Dominguez, Joaquin R / García, Juan / Alvarez, Sílvia

    Environmental science and pollution research international

    2021  Volume 28, Issue 15, Page(s) 18725–18726

    MeSH term(s) Environmental Pollution ; Environmental Restoration and Remediation ; Industrial Waste ; Waste Water ; Water ; Water Pollutants, Chemical
    Chemical Substances Industrial Waste ; Waste Water ; Water Pollutants, Chemical ; Water (059QF0KO0R)
    Language English
    Publishing date 2021-03-12
    Publishing country Germany
    Document type Editorial
    ZDB-ID 1178791-0
    ISSN 1614-7499 ; 0944-1344
    ISSN (online) 1614-7499
    ISSN 0944-1344
    DOI 10.1007/s11356-021-12510-y
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  8. Article ; Online: Abdominal painful mass after prolonged standing: nephroptosis in a 30-year-old woman.

    Juste Álvarez, Silvia / Rodríguez-Izquierdo Jiménez, Marta / González Ginel, Ignacio / Rodríguez Antolín, Alfredo / Gomez Del Cañizo, Carmen

    Lancet (London, England)

    2024  Volume 403, Issue 10430, Page(s) 946

    MeSH term(s) Female ; Humans ; Adult ; Kidney Diseases ; Kidney ; Abdomen ; Pain
    Language English
    Publishing date 2024-03-09
    Publishing country England
    Document type Case Reports ; Journal Article
    ZDB-ID 3306-6
    ISSN 1474-547X ; 0023-7507 ; 0140-6736
    ISSN (online) 1474-547X
    ISSN 0023-7507 ; 0140-6736
    DOI 10.1016/S0140-6736(24)00197-1
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  9. Article ; Online: Familial clustering of primary lateral sclerosis and amyotrophic lateral sclerosis: Supplementary evidence for a continuum.

    Gazulla, José / Izquierdo-Alvarez, Silvia / Ruiz-Fernández, Emilio / Berciano, José

    European journal of neurology

    2021  Volume 29, Issue 1, Page(s) e1–e2

    MeSH term(s) Amyotrophic Lateral Sclerosis/genetics ; Cluster Analysis ; Humans ; Mutation
    Language English
    Publishing date 2021-11-14
    Publishing country England
    Document type Letter ; Comment
    ZDB-ID 1280785-0
    ISSN 1468-1331 ; 1351-5101 ; 1471-0552
    ISSN (online) 1468-1331
    ISSN 1351-5101 ; 1471-0552
    DOI 10.1111/ene.15146
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  10. Article: Initial Cerebellar Ataxia in Hereditary Adult-Onset Primary Lateral Sclerosis.

    Gazulla, José / Izquierdo-Alvarez, Silvia / Ruiz-Fernández, Emilio / Berciano, José

    Case reports in neurology

    2021  Volume 13, Issue 2, Page(s) 414–421

    Abstract: Cerebellar ataxia preceding the apparition of primary lateral sclerosis (PLS) is reported herein. Three individuals from 2 independent kindreds experienced ataxia before developing clinical signs of PLS. Disease onset was during the sixth decade or later, ...

    Abstract Cerebellar ataxia preceding the apparition of primary lateral sclerosis (PLS) is reported herein. Three individuals from 2 independent kindreds experienced ataxia before developing clinical signs of PLS. Disease onset was during the sixth decade or later, and an insidious onset, with progression exceeding 11 years, was observed. Pathochrony was homogenous, consisting of initial gait instability, followed by hand dysmetria 2 years later. During a 5-year follow-up, cerebellar ataxia remained the sole clinical manifestation, preceding the appearance of muscle stiffness, which progressed to a paraparesis, and then to a purely spastic quadriparesis, over 4 years; pseudobulbar dysarthria and dysphagia appeared later. At this disease stage, limb spasticity, hyperactive jaw and limb stretch reflexes, extensor plantar responses, and a spastic dysarthria were found on examination; limb dysmetria and an ataxo-spastic gait were also found. No muscle atrophy or fasciculation was observed. Among ancillary tests, electromyographic studies performed 6 years after disease onset revealed normal motor unit action potentials and absence of spontaneous activity, in 2 individuals. MRI revealed normal cerebellum and brainstem in 2 cases. Inheritance was dominant in both kindreds, and extensive genetic testing was negative. It is concluded that cerebellar ataxia preceded the appearance of a purely spastic spinobulbar syndrome (which fulfilled the clinical diagnostic criteria for PLS) during a 5-year period in 3 patients with a hereditary, adult-onset form of PLS; subsequent disease progression was equivalent to that of sporadic PLS. Further studies are needed to fully delineate the clinical and genetic spectra of adult-onset PLS.
    Language English
    Publishing date 2021-06-21
    Publishing country Switzerland
    Document type Case Reports
    ZDB-ID 2505302-4
    ISSN 1662-680X
    ISSN 1662-680X
    DOI 10.1159/000515157
    Database MEDical Literature Analysis and Retrieval System OnLINE

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