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To examine and categorize individual outcomes after the "Intensity matters!"-program, a new, cross-professional intensive intervention for children with disabilities across Norway. 84 children and their parents/legal guardian were enrolled in this multicase study. Participants were active in defining goals, and hereby the content of the intervention. The pre-settled goals were grouped into the categories of body functions and structure, activities and participation inspired by the components of the International Classification of Functioning, Disability, and Health (ICF). The pre-settled goals were assessed pre- and post-intervention by using The Canadian Occupational Performance Measure (COPM). A clinically important change was predefined as a change ≥2 points. 1004 pre-settled goals were categorized into focus areas, where 62.4% were categorized as activity; functional mobility (n = 626). Post-intervention assessment of the COPM ratings of child performance and satisfaction showed a mean change of 3.7 (range −0.25;8.5) and 3.8 (range 0.25;10), respectively. The majority of participants in the "Intensity Matters!"-program had a clinically important change in their individual goals after only three weeks of intervention. This study supports the use of client-centered measures in rehabilitation for children with disabilities, but a further examination of long-term outcome is warranted. The "Intensity matters!"-program is a cross-professional, goal-directed, and intensive intervention with a high degree of user involvement. In a sample of 84 individual participants, this study shows that the majority of focus areas were found to be of clinically relevant improvement post intervention. Individual structured programs with high intensity in a group setting are likely to be successful for children with different health conditions, including cerebral palsy and other neurological or genetic disorders. Areas of concern formulated ahead of a three-week, intensive, goal-directed program were mainly linked to the ICF domain activity, and more specifically related to personal care and functional mobility. Rehabilitation professionals should emphasise participants' priorities and involvement of children when planning and evaluating a therapeutic intervention. [ABSTRACT FROM AUTHOR]

Introduction Charcot-Marie-Tooth disease ( CMT) is a heterogeneous inherited neuropathy. The number of known CMT genes is rapidly increasing mainly due to next-generation sequencing technology, at present more than 70 CMT-associated genes are known. We investigated whether variants in the DCTN2 could cause CMT. Material and methods Fifty-nine Norwegian CMT families from the general population with unknown genotype were tested by targeted next-generation sequencing ( NGS) for variants in DCTN2 along with 32 CMT genes and 19 other genes causing other inherited neuropathies or neuronopathies, due to phenotypic overlap. In the family with the DCTN2 variant, exome sequencing was then carried out on all available eight family members to rule out the presence of more potential variants. Results Targeted NGS identified in one family a variant of DCTN2, c.337C>T, segregating with the phenotype in five affected members, while it was not present in the three unaffected members. The DCTN2 variant c.337C>T; p.(His113Tyr) was neither found in in-house controls nor in SNP databases. Exome sequencing revealed a singular heterozygous shared haplotype containing four genes, DCTN2, DNAH10, LRIG3, and MYO1A, with novel sequence variants. The haplotype was shared by all the affected members, while the unaffected members did not have it. Conclusions This is the first time a haplotype on chromosome 12 containing sequence variants in the genes DCTN2, DNAH10, LRIG3, and MYO1A has been linked to an inherited neuropathy in humans. [ABSTRACT FROM AUTHOR]

Background Musculoskeletal complaints are considered a major cause of sickness absence, particularly in areas such as the health sector. However, little is known about the personal decision-making process for self-certified sickness absence. Aims To explore female health care workers' thoughts and experiences about work attendance when experiencing musculoskeletal symptoms. Methods A qualitative study using individual, semi-structured, in-depth interviews with eight female health care workers was performed. Questions were related to factors influencing the decision to attend work and decision-making when facing the dilemma of attending work when experiencing musculoskeletal symptoms. The data were analysed according to the systematic text condensation. Results Subjects reported a high threshold before calling in sick. Self-certified sickness absence was not a strategy for coping with musculoskeletal symptoms as participants chose to be physically active and work part-time rather than taking sickness absence. Making decisions about attending work fostered conflicting norms, as women faced a dilemma between feeling guilt towards colleagues and patients and taking care of their own health. Conclusions The findings highlight the complexity of managing work when experiencing musculoskeletal symptoms, and the dilemmas faced by those affected. The importance of work environment factors and the fact that some women feel compelled to work part-time in order to prioritize their own health require further consideration. [ABSTRACT FROM AUTHOR]

Secreted proprotein convertase subtilisin/kexin type 9 (PCSK9) binds to the low-density lipoprotein receptor (LDLR) at the cell surface and disrupts the normal recycling of the LDLR. When human PCSK9 is injected into LDLR-deficient mice, PCSK9 is still rapidly cleared by the liver. This finding may suggest that PCSK9 is physiologically also cleared by receptors other than the LDLR. An alternative explanation could be that PCSK9 has undergone modifications during purification and is cleared by scavenger receptors on liver endothelial sinusoidal cells when injected into mice. If the only mechanism for clearing PCSK9 in humans is through the LDLR, one would expect that differences in the number of LDLRs would affect the plasma levels of low-density lipoprotein cholesterol (LDLC) and PCSK9 in a similar fashion. In this study, levels of LDLC and PCSK9 were measured in familial hypercholesterolemia (FH) homozygotes, FH heterozygotes, and normocholesterolemic subjects. The ratio between the levels of LDLC and PCSK9 was 1.7-fold higher in FH heterozygotes and 3-fold higher in FH homozygotes than in the normocholesterolemic subjects. Thus, defective LDLRs have a greater impact on the levels of LDLC than on the levels of PCSK9. By assuming that the rate of PCSK9 synthesis is similar in the 3 groups, this finding suggests that in humans, plasma PCSK9 is also cleared by LDLR-independent mechanisms. [ABSTRACT FROM AUTHOR]