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The objective of the study was to examine the aetiology of sensorineural hearing loss (SNHL) in a paediatric population presenting to the National Centre of Medical Genetics. A retrospective chart review from 1998 to 2006. One hundred and twenty nine children were investigated for SNHL. The average age of diagnosis of hearing loss was 36 months. The degree(More)
BACKGROUND Haploinsufficiency of the gene encoding for transcription factor 4 (TCF4) was recently identified as the underlying cause of Pitt-Hopkins syndrome (PTHS), an underdiagnosed mental-retardation syndrome characterised by a distinct facial gestalt, breathing anomalies and severe mental retardation. METHODS TCF4 mutational analysis was performed in(More)
Job satisfaction is a key to the retention of quality nurses. To promote staff retention and reduce costs, nursing administrators need current research on job satisfaction of home health nurses. In a study of job satisfaction of 66 home health nurses, research indicates that the most satisfying aspects of home care nursing include autonomy and independence,(More)
Mucopolysaccharidosis type 1 (MPS1) is an autosomal recessive disorder with severe, moderate and mild phenotypes: Hurler, Hurler-Scheie and Scheie syndromes. We estimated incidence (2001-2006) and prevalence (2002 census) of MPS1 in the Irish Republic (ROI) using population data, database and chart review of all live MPS1 patients attending two specialised(More)
The current status of state mental retardation/developmental disability agency information systems related to day and employment programs for persons with disabilities was described, and data regarding the number and characteristics of persons served in different day-employment programs and the funding sources for these persons were summarized. Suggestions(More)
Next-generation sequencing has accelerated the identification of disease genes in many rare genetic disorders including early-onset epileptic encephalopathies (EOEEs). While many of these disorders are caused by neuronal channelopathies, the role of synaptic and related neuronal proteins are increasingly being described. Here, we report a 6-year-old girl(More)
The aim of this study was to ascertain the diagnostic yield following a routine genetics clinic referral for the assessment of global developmental delay. Detailed retrospective review of 119 complete consecutive case notes of patients referred to one single clinical geneticist over a 14 month time period was undertaken (n = 119; 54 males, 65 females). The(More)
H.-W. Hübers,1,2,* S. G. Pavlov,1 S. A. Lynch,3 Th. Greenland,4 K. L. Litvinenko,5 B. Murdin,5 B. Redlich,6 A. F. G. van der Meer,6 H. Riemann,7 N. V. Abrosimov,7 P. Becker,8 H.-J. Pohl,9 R. Kh. Zhukavin,10 and V. N. Shastin10 1Institute of Planetary Research, German Aerospace Center (DLR), Rutherfordstrasse 2, 12489 Berlin, Germany 2Institut für Optik und(More)