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  1. Article: Case Report: Precision genetic diagnosis in a case of Dyggve-Melchior-Clausen syndrome reveals paternal isodisomy and heterodisomy of chromosome 18 with imprinting clinical implications.

    López-Garrido, María-Pilar / Carrascosa-Romero, María-Carmen / Montero-Hernández, Minerva / Serrano-Martínez, Caridad-María / Sánchez-Sánchez, Francisco

    Frontiers in genetics

    2022  Volume 13, Page(s) 1005573

    Abstract: A twelve-year-old patient with a previous clinical diagnosis of spondylocostal skeletal dysplasia and moderate intellectual disability was genetically analyzed through next generation sequencing of a targeted gene panel of 179 genes associated to ... ...

    Abstract A twelve-year-old patient with a previous clinical diagnosis of spondylocostal skeletal dysplasia and moderate intellectual disability was genetically analyzed through next generation sequencing of a targeted gene panel of 179 genes associated to skeletal dysplasia and mucopolysaccharidosis in order to stablish a precision diagnosis. A homozygous nonsense [c.62C>G; p.(Ser21Ter)] mutation in
    Language English
    Publishing date 2022-11-18
    Publishing country Switzerland
    Document type Case Reports
    ZDB-ID 2606823-0
    ISSN 1664-8021
    ISSN 1664-8021
    DOI 10.3389/fgene.2022.1005573
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article: Síndrome de Dyggve-Melchior-Clausen: presentación de un caso con una mutación de posible origen español.

    Martínez-Frías, María Luisa / Cormier-Daire, Valerie / Cohn, Daniel H / Mendioroz, Jacobo / Bermejo, Eva / Mansilla, Elena

    Medicina clinica

    2007  Volume 128, Issue 4, Page(s) 137–140

    Abstract: Background and objective: The Dyggve-Melchior-Clausen syndrome is a progressive ...

    Title translation Dyggve-Melchior-Clausen syndrome: presentation of a case with a mutation of possible Spanish origin.
    Abstract Background and objective: The Dyggve-Melchior-Clausen syndrome is a progressive spondyloepimetaphyseal dysplasia characterized by a short trunk dwarfism, barrel chest, sternal protrusion, kyphoscoliosis, severe platyspondyly, with a central constriction, irregular iliac wings with a lacy appearance, rhizomelic shortening of the limbs, microcephaly, coarse face, and variable mental retardation. This condition is extremely rare and the diagnosis is difficult without any previous experience on it. It is inherited as an autosomal recessive condition, its gene (DYM) having been mapped in the 18q12-21.1 chromosomal region. At least 21 different mutations of this gene have been reported.
    Material and methods: We describe an affected Spanish child and include his molecular analysis. We also review the current knowledge on this syndrome.
    Results: The diagnosis of this patient, based on his clinical and radiological features, was later confirmed by analysis of the DYM gene mutations. The patient had two different mutations, one inherited from the mother and the other inherited from the father.
    Conclusions: One of the mutations of this patient (exon 8) is extremely rare and has mostly been reported in patients with Spanish ancestors (from Chile, Argentina, Guam islands and a French patient with Spanish ancestors). These observations, together with that of the patient described here, led us to consider this mutation as having a possible Spanish/Portuguese origin. This condition may be more frequent in Spain than previously thought, especially due to misdiagnosis. This is important in order to undertake quaternary prevention, which is quite necessary for rare syndromes with polysystemic affectation.
    MeSH term(s) Abnormalities, Multiple/genetics ; Bone Diseases, Developmental/genetics ; Bone and Bones/abnormalities ; Child ; Chromosome Mapping ; Dwarfism/genetics ; Face/abnormalities ; Humans ; Intellectual Disability/genetics ; Male ; Microcephaly/genetics ; Mutation ; Phenotype ; Spain ; Syndrome
    Language Spanish
    Publishing date 2007-02-03
    Publishing country Spain
    Document type Case Reports ; English Abstract ; Journal Article ; Review
    ZDB-ID 411607-0
    ISSN 1578-8989 ; 0025-7753
    ISSN (online) 1578-8989
    ISSN 0025-7753
    DOI 10.1157/13098019
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  3. Article ; Online: The long shadow of the COVID-19 pandemic on children and adolescents' mental health.

    Melchior, Maria

    European child & adolescent psychiatry

    2023  Volume 32, Issue 12, Page(s) 2385–2386

    MeSH term(s) Adolescent ; Child ; Humans ; COVID-19 ; Mental Health ; Pandemics
    Language English
    Publishing date 2023-11-17
    Publishing country Germany
    Document type Editorial ; Comment
    ZDB-ID 1118299-4
    ISSN 1435-165X ; 1018-8827 ; 1433-5719
    ISSN (online) 1435-165X
    ISSN 1018-8827 ; 1433-5719
    DOI 10.1007/s00787-023-02321-6
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  4. Article ; Online: Social inequalities in children's mental health: isn't it time for action?

    Melchior, Maria

    European child & adolescent psychiatry

    2021  Volume 30, Issue 9, Page(s) 1317–1318

    MeSH term(s) Child ; Child Health ; Humans ; Mental Health ; Socioeconomic Factors
    Language English
    Publishing date 2021-08-12
    Publishing country Germany
    Document type Editorial
    ZDB-ID 1118299-4
    ISSN 1435-165X ; 1018-8827 ; 1433-5719
    ISSN (online) 1435-165X
    ISSN 1018-8827 ; 1433-5719
    DOI 10.1007/s00787-021-01855-x
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  5. Article: Probable identity-by-descent for a mutation in the Dyggve-Melchior-Clausen/Smith-McCort dysplasia (Dymeclin) gene among patients from Guam, Chile, Argentina, and Spain.

    Pogue, Robert / Ehtesham, Nadia / Repetto, Gabriela M / Carrero-Valenzuela, Roque / de Casella, Cristina Bazán / de Pons, Silvia Pintos / Martínez-Frías, Maria Luisa / Heuertz, Solange / Cormier-Daire, Valerie / Cohn, Daniel H

    American journal of medical genetics. Part A

    2005  Volume 138, Issue 1, Page(s) 75–78

    MeSH term(s) Abnormalities, Multiple/genetics ; Abnormalities, Multiple/pathology ; Argentina ; Chile ; DNA Mutational Analysis ; Family Health ; Female ; Growth Disorders/pathology ; Guam ; Haplotypes ; Humans ; Intellectual Disability/pathology ; Intracellular Signaling Peptides and Proteins ; Male ; Mutation ; Osteochondrodysplasias/pathology ; Pedigree ; Polymorphism, Single Nucleotide ; Proteins/genetics ; Spain ; Syndrome
    Chemical Substances DYM protein, human ; Intracellular Signaling Peptides and Proteins ; Proteins
    Language English
    Publishing date 2005-10-13
    Publishing country United States
    Document type Letter
    ZDB-ID 2108614-X
    ISSN 1552-4825
    ISSN 1552-4825
    DOI 10.1002/ajmg.a.30912
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  6. Article ; Online: Invited Commentary: Is the Long Shadow of Childhood Disadvantage on Lifelong Health Getting Worse Over Time?

    Melchior, Maria

    American journal of epidemiology

    2021  Volume 190, Issue 11, Page(s) 2294–2296

    Abstract: Social inequalities in health and their early-life origins have been extensively documented. Although the complex direct and intermediate mechanisms linking early-life disadvantage to later health are not yet fully understood, new findings on biological ... ...

    Abstract Social inequalities in health and their early-life origins have been extensively documented. Although the complex direct and intermediate mechanisms linking early-life disadvantage to later health are not yet fully understood, new findings on biological markers distinctly related with early-life experiences suggest a causal relationship. In this issue, Fuller-Rowell et al. (Am J Epidemiol. 2021:190(11):2284-2293) step back to examine the role of childhood disadvantage in the United States in different periods, observing that the relationship with later health seems to have strengthened over time. The main explanation the authors bring up has to do with increased income segregation and changes in labor market composition that limit opportunities for persons with low educational attainment. In other words, while the rich get richer, the poor get poorer, the middle class shrinks, and there are fewer interactions across different socioeconomic groups and the social ladder is blocked. Other evidence suggests that investments in children, through early education and academic support programs, could help reduce the consequences of childhood disadvantage on long-term health.
    MeSH term(s) Child ; Educational Status ; Humans ; Income ; Occupations ; Socioeconomic Factors ; Time ; United States/epidemiology
    Language English
    Publishing date 2021-06-07
    Publishing country United States
    Document type Journal Article ; Comment
    ZDB-ID 2937-3
    ISSN 1476-6256 ; 0002-9262
    ISSN (online) 1476-6256
    ISSN 0002-9262
    DOI 10.1093/aje/kwab168
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  7. Article ; Online: Is children's mental illness "a family affair"?

    Melchior, Maria

    European child & adolescent psychiatry

    2019  Volume 28, Issue 7, Page(s) 875–876

    MeSH term(s) Child ; Family/psychology ; Female ; Humans ; Male ; Mental Disorders/psychology
    Language English
    Publishing date 2019-07-03
    Publishing country Germany
    Document type Editorial
    ZDB-ID 1118299-4
    ISSN 1435-165X ; 1018-8827 ; 1433-5719
    ISSN (online) 1435-165X
    ISSN 1018-8827 ; 1433-5719
    DOI 10.1007/s00787-019-01366-w
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  8. Article ; Online: Suicide following a conviction, solitary confinement, or transfer in people incarcerated: A comprehensive retrospective cohort study in France, 2017-2020.

    Vanhaesebrouck, Alexis / Fovet, Thomas / Melchior, Maria / Lefevre, Thomas

    Suicide & life-threatening behavior

    2024  

    Abstract: Introduction: Suicide rates are higher in prison than in the general population in most countries. The proximity of some suicides to prison events has only received little attention in comparative studies. The aim of this study was to assess the ... ...

    Abstract Introduction: Suicide rates are higher in prison than in the general population in most countries. The proximity of some suicides to prison events has only received little attention in comparative studies. The aim of this study was to assess the relationship between suicide and four prison events: conviction, disciplinary solitary confinement, nondisciplinary solitary confinement and inter-prison transfer, in a national retrospective cohort study of people in prison.
    Methods: All incarcerations in France that occurred during 2017-2020 were eligible. Data were collected from an administrative database of the National Prison Service. Survival bivariate and multivariate analyses were performed with a Cox regression model.
    Results: Of 358,522 incarcerations were included, among which 469,348 events and 449 suicides occurred. In multivariate analysis, suicide risk was higher the first day of disciplinary solitary confinement (HR = 42.1 [21.5-82.7] and HR = 119.0 [71.5-197.9], before and after a government decree on the disciplinary system, respectively. It was higher within 2 weeks after a transfer (HR = 3.5 [2.3-5.2])) or entry in nondisciplinary solitary confinement (HR = 6.7 [3.4-13.3]) and lower within 2 weeks after a conviction (HR = 0.6 [0.4-1.0]).
    Conclusion: Solitary confinement and transfer were found to be precipitating factors of suicide in people who are incarcerated. These results offer interesting perspectives on prevention.
    Language English
    Publishing date 2024-02-15
    Publishing country England
    Document type Journal Article
    ZDB-ID 750058-0
    ISSN 1943-278X ; 0047-4592 ; 0363-0234
    ISSN (online) 1943-278X
    ISSN 0047-4592 ; 0363-0234
    DOI 10.1111/sltb.13064
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  9. Article ; Online: Risk factors of suicide in prisons: a comprehensive retrospective cohort study in France, 2017-2020.

    Vanhaesebrouck, Alexis / Fovet, Thomas / Melchior, Maria / Lefevre, Thomas

    Social psychiatry and psychiatric epidemiology

    2024  

    Abstract: Purpose: Suicide is a leading cause of death in prison and the suicide rates are several times higher in the prison population than in the general population in most countries. Of the studies that have investigated risk factors for suicide in prison, ... ...

    Abstract Purpose: Suicide is a leading cause of death in prison and the suicide rates are several times higher in the prison population than in the general population in most countries. Of the studies that have investigated risk factors for suicide in prison, few have controlled for possible confounding factors. The aim of this study is to identify risk factors of suicide among people in French prisons, over a four-year period.
    Methods: All incarcerations that occurred in France during 2017-2020 were eligible. Sociodemographic, criminal and prison characteristics were collected for each incarceration from data of the National Prison Service. Survival univariate and multivariate analyses were performed with a Cox regression model.
    Results: 358,522 incarcerations were included, of which 449 ended in suicide during the follow-up. The median length of prison stay was 5.1 months. The median age at prison entry was 30 years and 95.8% of incarcerations involved men. The overall suicide rate was 173 [157-189] per 100,000 person-years. Factors associated with suicide in the multivariate model (p < 0.05) were the early stage of incarceration and in particular the first week (HR = 7.6 [5.4-10.8]), violent offences and in particular homicide (HR = 3.0 [2.1-4.2]), French (HR = 1.7 [1.2-2.4]) and other European nationalities (HR = 2.1 [1.4-3.3]), age above 40 (HR = 2.0 [1.5-2.6]), pre-trial incarceration (HR = 1.8 [1.4-2.3]), being separated (HR = 1.6 [1.1-2.3] and having a high school diploma (HR = 1.4 [1.0-1.8]).
    Conclusions: Factors associated with suicide in prison are complex and involve individuals' criminal history as well as conditions of incarceration. These characteristics may be relevant to focus suicide prevention efforts.
    Language English
    Publishing date 2024-04-09
    Publishing country Germany
    Document type Journal Article
    ZDB-ID 623071-4
    ISSN 1433-9285 ; 0037-7813 ; 0933-7954
    ISSN (online) 1433-9285
    ISSN 0037-7813 ; 0933-7954
    DOI 10.1007/s00127-024-02661-x
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  10. Article ; Online: Differences in Social Distancing May Not Explain the Decreased Likelihood of SARS-CoV-2 Infection in Smokers.

    Airagnes, Guillaume / Matta, Joane / Melchior, Maria / Zins, Marie

    Nicotine & tobacco research : official journal of the Society for Research on Nicotine and Tobacco

    2023  Volume 25, Issue 10, Page(s) 1698–1700

    MeSH term(s) Humans ; COVID-19/epidemiology ; Physical Distancing ; SARS-CoV-2 ; Smokers
    Language English
    Publishing date 2023-05-26
    Publishing country England
    Document type Journal Article ; Research Support, Non-U.S. Gov't ; Comment
    ZDB-ID 1452315-2
    ISSN 1469-994X ; 1462-2203
    ISSN (online) 1469-994X
    ISSN 1462-2203
    DOI 10.1093/ntr/ntad083
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