Phenotypic and molecular assessment of seven patients with 6p25 deletion syndrome: relevance to ocular dysgenesis and hearing impairment.

BACKGROUND: Thirty-nine patients have been described with deletions involving chromosome 6p25. However, relatively few of these deletions have had molecular characterization. Common phenotypes of 6p25 deletion syndrome patients include hydrocephalus, hearing loss, and ocular, craniofacial, skeletal, cardiac, and renal malformations. Molecular characterization of deletions can identify genes that are responsible for these phenotypes. METHODS: We report the clinical phenotype of seven patients with terminal deletions of chromosome 6p25 and compare them to previously reported patients. Molecular characterization of the deletions was performed using polymorphic marker analysis to determine the extents of the deletions in these seven 6p25 deletion syndrome patients. RESULTS: Our results, and previous data, show that ocular dysgenesis and hearing impairment are the two most highly penetrant phenotypes of the 6p25 deletion syndrome. While deletion of the forkhead box C1 gene (FOXC1) probably underlies the ocular dysgenesis, no gene in this region is known to be involved in hearing impairment. CONCLUSIONS: Ocular dysgenesis and hearing impairment are the two most common phenotypes of 6p25 deletion syndrome. We conclude that a locus for dominant hearing loss is present at 6p25 and that this locus is restricted to a region distal to D6S1617. Molecular characterization of more 6p25 deletion patients will aid in refinement of this locus and the identification of a gene involved in dominant hearing loss.

Impaired natural killing of MHC class I-deficient targets by NK cells expressing a catalytically inactive form of SHP-1.

NK cell function is negatively regulated by MHC class I-specific inhibitory receptors. Transduction of the inhibitory signal involves protein tyrosine phosphatases such as SHP-1 (SH2-containing protein tyrosine phosphatase-1). To investigate the role of SHP-1 for NK cell development and function, we generated mice expressing a catalytically inactive, dominant-negative mutant of SHP-1 (dnSHP-1). In this paper we show that expression of dnSHP-1 does not affect the generation of NK cells even though MHC receptor-mediated inhibition is partially impaired. Despite this defect, these NK cells do not kill syngeneic, normal target cells. In fact dnSHP-1-expressing NK cells are hyporesponsive toward MHC-deficient target cells, suggesting that non-MHC-specific NK cell activation is significantly reduced. In contrast, these NK cells mediate Ab-dependent cell-mediated cytotoxicity and prevent the engraftment with beta2-microglobulin-deficient bone marrow cells. A similar NK cell phenotype is observed in viable motheaten (mev) mice, which show reduced SHP-1 activity due to a mutation in the Shp-1 gene. In addition, NK cells in both mouse strains show a tendency to express more inhibitory MHC-specific Ly49 receptors. Our results demonstrate the importance of SHP-1 for the generation of functional NK cells, which are able to react efficiently to the absence of MHC class I molecules from normal target cells. Therefore, SHP-1 may play an as-yet-unrecognized role in some NK cell activation pathways. Alternatively, a reduced capacity to transduce SHP-1-dependent inhibitory signals during NK cell development may be compensated by the down-modulation of NK cell triggering pathways.

Faktorenanalytische Untersuchung und Rehabilitätsbestimmung der statischen und dynamischen Pupillometrie bei Normalpersonen und psychopathologischen Gruppen [Factor analytic study and determination of rehabilitation of static and dynamic pupillometry in normal persons and psychopathologic groups]

Variables measured during static and dynamic pupillometry were factor-analyzed. Following factors were obtained regardless whether investigations were carried out in normals or in psychiatric patients: A static factor, a dynamic factor, a stimulus-specific factor and a restitution-dependent factor. Evaluation of reliability in normals demonstrated a high reliability for the static variables of pupillometry.

Hearing Aids and Audiological Services Funding Summary - Fiscal Year 2009

An annual report from the Early Hearing Detection and Intervention section of the Iowa Department of Public Health stating the number of children receiving audiological services, the dollars spent and the insrance coverage of the children that received either services or equipment.

Hearing Aids and Audiological Services Funding Summary - Fiscal Year 2010

An annual report from the Early Hearing Detection and Intervention section of the Iowa Department of Public Health stating the number of children receiving audiological services, the dollars spent and the insrance coverage of the children that received either services or equipment.

Iowa's Early Hearing and Intervention Program - Hearing Checklist, 2011

A simple checklist divided into sections by month showing the common progression of hearing ability of a child up to three years of age .

Iowa Hearing Health Care Directory, 2008

Audiologists, hearing aid dispensers, and ear, nose, and throat doctors were invited to be listed in this directory. All providers who responded and provide pediatric hearing health care services to children have been included in this directory. The information listed was provided by each provider.

Iowa’s Early Hearing Detection and Intervention Family Resource Guide for Parents of Children Who are Deaf and Hard of Hearing, 2010

This guide is intended to serve as the fi rst step in your journey toward understanding your child’s hearing loss and the resources available for your child and your family. Research provides clear evidence that if a child with hearing loss is to succeed in both language and educational development, the involvement of parents is crucial. This guide will equip you with the basic knowledge and resources you need to navigate Iowa’s service system. Here you will find: • information about the professionals who will work with your child • information about family support • your child’s education and communication options • your rights and responsibilities as the parent of child who is deaf or hard of hearing • links to other important resources • a glossary of new words you may encounter

Iowa’s Early Hearing Detection and Intervention Family Resource Guide for Parents of Children Who are Deaf and Hard of Hearing, 2010. Para detección e intervención temprana de la audición Guia de Recursos del Estado de Iowa para Padres con Ninos Sordeo o Audicion Disminuida, 2010

This guide is intended to serve as the fi rst step in your journey toward understanding your child’s hearing loss and the resources available for your child and your family. Research provides clear evidence that if a child with hearing loss is to succeed in both language and educational development, the involvement of parents is crucial. This guide will equip you with the basic knowledge and resources you need to navigate Iowa’s service system. Here you will find: • information about the professionals who will work with your child • information about family support • your child’s education and communication options • your rights and responsibilities as the parent of child who is deaf or hard of hearing • links to other important resources • a glossary of new words you may encounter Esta guía tiene por objeto ayudarle a dar el primer paso para comprender la pérdida auditiva de su hijo/a y los recursos disponibles para él/ella y su familia. Las investigaciones demuestran claramente que la participación de los padres es fundamental para que los niños con pérdida auditiva tengan éxito tanto en su desarrollo lingüístico como educacional. Esta guía le entregará los conocimientos y recursos básicos que necesitará para navegar por el sistema de servicios de Iowa. En esta guía encontrará: • información sobre los profesionales que trabajarán con su hijo/a • información sobre apoyo familiar • opciones de educación y comunicación de su hijo/a • sus derechos y responsabilidades como padre o madre de un niño con sordera o con difi cultades auditivas • vínculos a otros recursos importantes • un glosario de nuevas palabras que necesita conocer

Healthcare utilization of elderly persons hospitalized after a noninjurious fall in a Swiss academic medical center.

OBJECTIVES: To determine the risk of hospital readmission, nursing home admission, and death, as well as health services utilization over a 6-month follow-up, in community-dwelling elderly persons hospitalized after a noninjurious fall. DESIGN: Prospective cohort study with 6-month follow-up. SETTING: Swiss academic medical center. PARTICIPANTS: Six hundred ninety persons aged 75 and older hospitalized through the emergency department. MEASUREMENTS: Data on demographics and medical, physical, social, and mental status were collected upon admission. Follow-up data were collected from the state centralized billing system (hospital and nursing home admission) and proxies (death). RESULTS: Seventy patients (10%) were hospitalized after a noninjurious fall. Fallers had shorter hospital stays (median 4 vs 8 days, P<.001) and were more frequently discharged to rehabilitation or respite care than nonfallers. During follow-up, fallers were more likely to be institutionalized (adjusted hazard ratio=1.82, 95% confidence interval=1.03-3.19, P=.04) independent of comorbidity and functional and mental status. Overall institutional costs (averaged per day of follow-up) were similar for both groups ($138.5 vs $148.7, P=.66), but fallers had lower hospital costs and significantly higher rehabilitation and long-term care costs ($55.5 vs $24.1, P<.001), even after adjustment for comorbidity, living situation, and functional and cognitive status. CONCLUSION: Elderly patients hospitalized after a noninjurious fall were twice as likely to be institutionalized as those admitted for other medical conditions and had higher intermediate and long-term care services utilization during follow-up, independent of functional and health status. These results provide direction for interventions needed to delay or prevent institutionalization and reduce subsequent costs.

Life-course socioeconomic environment and health risk behaviours: a multilevel small-area analysis of young-old persons in an urban neighbourhood in Lausanne, Switzerland

With a life expectancy at the age of 65 of around 20 years, damaging health risk behaviours of young-old adults have become a target for preventive actions. Such risk factors necessitate an accurate understanding of the present and past socioeconomic conditions associated with health risk behaviours. The aim of our study is to assess the impact of certain life events as well as economic and environmental factors on health risk behaviours. We included 1309 participants of the Lausanne Cohort Lc65+ aged 65-70 years and employed logistic regression analyses, with individuals nested within areas. The results illustrate the influences of socioeconomic factors from childhood to young-old age. Life experiences in adulthood and economic resources in young-old age are both associated with unfavourable health behaviours. Neighbourhood is a modest determinant as well, particularly regarding alcohol consumption. Therefore, prevention against health risk behaviours should focus on population subgroups defined on the basis of their socioeconomic and living contexts.

Heb 5.7, Jesus' Prayer on the Mount of Olives and Jewish Christianity: Hearing Early Christian Voices in Canonical and Apocryphal Texts

(Résumé de l'ouvrage) The book of Hebrews has often been the Cinderella of the New Testament, overlooked and marginalized; and yet it is one of the most interesting and theologically significant books in the New Testament. A Cloud of Witness examines the theology of the book in the light of its ancient historical context. There are chapters devoted to the structure of Hebrews, the person of Jesus Christ, Hebrews within the context of Second Temple Judaism and the Greco-Roman empire and the role of Hebrews in early Christian thought.

Damn Platonism! Concrete Persons' Skin, Flesh and Bodies: Three Phases of a Won Battle in Miquel Àngel Riera's poetry

The aim of this article is to show how, throughout M. A. Riera's poetry, an evident anti-metaphysical sensibility can be easily detected, which in its turn makes the poet to praise concrete person's skin, flesh and bodies, thus avoiding any personal Platonic or idealistic experience of human love. In the author's opinion, an accurate reading of his poems makes us discover Plato and Platonism as one of the great responsible thinkers for the contempt of carnal love, which has been undoubtedly the origin of a real human pain as a result of denying the somatic side of eros.

Division of Persons with Disabilities Department of Human Rights Strategic Plan, 2002-2005

The Division of Persons with Disabilities exists to promote the employment of Iowans with disabilities and reduce barriers to employment by providing information, referral, assessment and guidance, training, and negotiation services to employers and citizens with disabilities.