Role of the Protein Tyrosine Kinase 7 gene in human neural tube defects

Les anomalies du tube neural (ATN) sont des anomalies développementales où le tube neural reste ouvert (1-2/1000 naissances). Afin de prévenir cette maladie, une connaissance accrue des processus moléculaires est nécessaire. L’étiologie des ATN est complexe et implique des facteurs génétiques et environnementaux. La supplémentation en acide folique est reconnue pour diminuer les risques de développer une ATN de 50-70% et cette diminution varie en fonction du début de la supplémentation et de l’origine démographique. Les gènes impliqués dans les ATN sont largement inconnus. Les études génétiques sur les ATN chez l’humain se sont concentrées sur les gènes de la voie métabolique des folates du à leur rôle protecteur dans les ATN et les gènes candidats inférés des souris modèles. Ces derniers ont montré une forte association entre la voie non-canonique Wnt/polarité cellulaire planaire (PCP) et les ATN. Le gène Protein Tyrosine Kinase 7 est un membre de cette voie qui cause l’ATN sévère de la craniorachischisis chez les souris mutantes. Ptk7 interagit génétiquement avec Vangl2 (un autre gène de la voie PCP), où les doubles hétérozygotes montrent une spina bifida. Ces données font de PTK7 comme un excellent candidat pour les ATN chez l’humain. Nous avons re-séquencé la région codante et les jonctions intron-exon de ce gène dans une cohorte de 473 patients atteints de plusieurs types d’ATN. Nous avons identifié 6 mutations rares (fréquence allélique <1%) faux-sens présentes chez 1.1% de notre cohorte, dont 3 sont absentes dans les bases de données publiques. Une variante, p.Gly348Ser, a agi comme un allèle hypermorphique lorsqu'elle est surexprimée dans le modèle de poisson zèbre. Nos résultats impliquent la mutation de PTK7 comme un facteur de risque pour les ATN et supporte l'idée d'un rôle pathogène de la signalisation PCP dans ces malformations.

Mental health and human rights: the MI Principles - turning rhetoric into action

The purpose of this paper is to describe and explain General Assembly Resolution 46/119 United Nations Principles for the Protection of Persons with Mental Illness and for the Improvement for Mental Health Care and situate them in the current examination of mental health and human rights issues. The paper will provide country examples of human rights standards in mental healthcare, will exemplify some of the failures to use the MI Principles and comment on why this has occurred. The paper will also discuss the 'Principles to Respect': Initiative on Mental Health and Human Rights, a practical strategy to address the human rights standards of persons with mental illness.

Assessing high-priority mixtures: A review of methanol as influenced by ethanol

The intent of this research was to identify the level of risk methanol posed to a fetus during an ethanol co-exposure. This investigation was prompted by the known competitive inhibition properties of ethanol and the developmental toxicity of methanol. Integrated into this research was the practicality necessitated by regulatory processes, namely: does the risk justify the expense of additional research. To this end, the scope and nature of exposures were summarized to illustrate the ubiquity of these chemicals and the potential for dual exposure. Similarly, severity of outcome was evaluated by systematically reviewing the LOAELs, NOAELs, and statistical significance contained in methanol-induced developmental studies. Results. Blood methanol levels corresponding to developmental effects in laboratory studies were found to be substantially higher than the blood methanol levels predicted in high-risk methanol-ethanol exposure scenarios. This indicates that ethanol would not likely exacerbate methanol toxicity to the point of teratogenicity; however, it is important to note that the developmental toxicity of ethanol—an established human teratogen—was not included in the evaluation. Ethanol's contribution as a developmental toxicant rather than merely as an attenuator of methanol toxicity undermines the severity of effects possible from this chemical combination. Therefore further evaluation is needed to assess the developmental toxicities following dual exposures before rendering methanol and ethanol a high-priority mixture.^

Risk assessment for public health from human interaction with ornamental waters

Water is essential to life; nevertheless ingestion of contaminated water could result in death caused by waterborne diseases such as cholera. Pathogens present in the water can cause diseases, other than those resulting from water ingestion, being registered an increase in the number of case reports in recent years. It is not clear if this increase is due either to a better case reporting system or to an increase in microorganism’s virulence. The generalized use of antibiotics in agriculture and animal farming contributed to their dissemination in the environment which promotes microorganism selection and emergence of resistant strains. This phenomenon can be enhanced by the ability of microorganism to persist within complex communities known as biofilms. In the present work we aim to characterize the microbial population present in ornamental waters and perform a risk assessment for public health resulting from human interaction with it.

Health and Human Services : Hispanic representation and equal employment practices in Region VIII : report to the Honorable Timothy E. Wirth, U.S. Senate /

"November 1990."

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"B-243721"--P. 1.

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Mode of access: Internet.

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Mode of access: Internet.

Departments of Labor, Health and Human Services, Education, and related agencies appropriations for 2012 : hearings before a subcommittee of the Committee on Appropriations, House of Representatives, One Hundred Twelfth Congress, first session /

Shipping list no.: 2011-0418-P (pt. 1), 2011-0423-P (pt. 2A), 2011-0426-P (pt. 2B), 2011-0439-P (pt. 3), 2011-0432-P (pt. 4), 2012-0085-P (pt. 5), 2012-0221-P (pt. 6), 2012-0256-P (pt. 7).

Departments of Labor, Health and Human Services, Education, and related agencies appropriations for 2011 : hearings before a subcommittee of the Committee on Appropriations, House of Representatives, One Hundred Eleventh Congress, second session /

Mode of access: Internet.

Departments of Labor, Health and Human Services, Education, and related agencies appropriations for 2013 : hearings before a subcommittee of the Committee on Appropriations, House of Representatives, One Hundred Twelfth Congress, second session /

Shipping list no. 2012-0243-P (pt. 1, 4), 2012-0266-P (pt. 2A), 2012-0267-P (pt. 2B), 2012-0250-P (pt. 3), 2013-0038 (pt. 5), 2013-0040-P (pt. 6), 2012-0298-P (pt. 7).

Departments of Labor, Health and Human Services, Education, and related agencies appropriations for 2014 : hearings before a subcommittee of the Committee on Appropriations, House of Representatives, One Hundred Thirteenth Congress, first session /

Mode of access: Internet.

Departments of Labor, Health and Human Services, and Education, and related agencies appropriations for fiscal year 1994 : hearings before a Subcommittee of the Committee on Appropriations, United States Senate, One Hundred Third Congress, first session.

Shipping list no. 94-0642-P (pt. 1).

Annual report of the U.S. Department of Health and Human Services to the Congress of the United States on services provided to handicapped children in Project Head Start.

Title from cover.

Departments of Labor, Health and Human Services, Education, and related agencies appropriations for 1983 [microform] : hearings before a subcommittee of the Committee on Appropriations, House of Representatives, Ninety-seventh Congress, second session.

CIS Microfiche Accession Numbers: CIS 82 H181-51 (pt.1), CIS 82 H181-52 (pt.2), CIS 82 H181-53 (pt.3), CIS 82 H181-54 (pt.4), CIS 82 H181-55 (pt.5), CIS 82 H181-56 (pt.6), CIS 82 H181-80 (pt.7), CIS 82 H181-81 (pt.8), CIS 82 H181-82 (pt.9)