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CHD7 mutation spectrum in 28 Swedish patients diagnosed with CHARGE syndrome

CHARGE syndrome is a disorder characterized by Coloboma, Heart defect, Atresia choanae, Retarded growth and/or development, Genital hypoplasia and Ear anomalies. Heterozygous mutations in the chromodomain helicase DNA-binding protein 7 (CHD7) gene have been identified in about 60% of individuals diagnosed with CHARGE syndrome. We performed a CHD7 mutation screening by direct exon sequencing in 28

Spatial clustering of mental disorders and associated characteristics of the neighbourhood context in Malmo, Sweden, in 2001.

Study objective: Previous research provides preliminary evidence of spatial variations of mental disorders and associations between neighbourhood social context and mental health. This study expands past literature by (1) using spatial techniques, rather than multilevel models, to compare the spatial distributions of two groups of mental disorders (that is, disorders due to psychoactive substance

Sociodemographic risk factors of metabolic syndrome in middle-aged women: results from a population-based study of Swedish women, The Women's Health in the Lund Area (WHILA) Study.

BACKGROUND: Metabolic syndrome (MS) is a common health problem in menopausal women. According to The Adult Treatment Panel (ATP) III, MS includes the combination of three or more of the following risk factors: abdominal obesity, glucose intolerance, high blood pressure, high serum triglycerides and low levels of high density lipoprotein cholesterol. OBJECTIVES: To assess the prevalence of the MS i

Factors related to frequent usage of the primary healthcare services in old age: findings from The Swedish National Study on Aging and Care

People aged 60 or more are the most frequent users of healthcare services. In this age range, however, both frequent and infrequent users can be found. Frequent users have high rates of illnesses. Previous research has found that the frequency may be influenced also by psychological and social factors. The aim of this study was to investigate to what degree such factors add to the explanation of d

Parents' experience of early discharge from hospital after birth in Sweden.

OBJECTIVE: to investigate the factors that influence the experience of mothers and fathers when they have chosen to return home, earlier than is the normal routine, following the birth of their baby. DESIGN: a qualitative study, using open interviews, was undertaken. The text of the transcripts was coded and categorised according to the grounded theory method using constant comparative analysis. S

Packaging information needed for evaluation in the supply chain: The case of the Swedish grocery retail industry

The proper use and exchange of the right packaging-related information in a grocery supply chain is critical to achieve an efficient and responsive packaging logistics system. The use of well-defined packaging-related information that is available for all actors in the supply chain also facilitates an integrated and supply chain-orientated packaging development. The objective of this paper is to d

Sustainability and biodiversity: from policy to implementation, with examples from Swedish forests

The implementation of the Rio protocol and the preservation of biodiversity at national and regional level is an important step in achieving a sustainable forestry. This is indeed a challenging task since our knowledge of the ecology and habitat demands for but a few species is severely restricted. Research in the last years show that forest species have very different qualitative and spatial dema