CHAMP1 premature termination codon mutations found in individuals with intellectual disability cause a homologous recombination defect through haploinsufficiency.

CHAMP1 (chromosome alignment-maintaining phosphoprotein 1) plays a role in the repair of DNA double-strand breaks (DSBs) by homologous recombination (HR). The CHAMP1 gene is one of the genes mutated in individuals with intellectual disability. The majority of the mutations are premature termination codon (PTC) mutations, while missense mutations have also been reported.

Nerve sonography in the diagnostic evaluation of primary and secondary carpal tunnel syndrome in rheumatoid arthritis.

Background And Purpose: Carpal tunnel syndrome (CTS) is the most common entrapment neuropathy and extra-articular manifestation of rheumatoid arthritis (RA). However, in patients with RA, it is not always possible to clinically distinguish an actual CTS from other RA-based complaints.

Methods: We evaluated the diagnostic role of nerve ultrasound (NUS) as supportive tool in the diagnostic process of CTS in patients with RA and tried to provide etiological clarification in cases of secondary CTS.

The Structured Delegation of Medical Care Services for Patients With Inflammatory Rheumatic Diseases.

Background: In some areas of Germany, there is a shortage of specialist physicians for patients with inflammatory rheumatic diseases. Delegating certain medical care services to qualified, specialized rheumatological assistants (SRAs) might be an effective way to supplement the available capacity for specialized medical care.

Methods: Patients under stable treatment for rheumatoid arthritis (RA) or psoriatic arthritis (PsA) were included in this trial, which was designed to demonstrate, in a first step, the non-inferiority of a form of care involving delegation of physicians' tasks to SRAs (team-based care), in comparison to standard care, with respect to changes in disease activity at one year.

[Multimodal therapy of fibromyalgia syndrome : Updated guidelines 2017 and overview of systematic review articles].

Background: The regular update of the guidelines on fibromyalgia syndrome, AWMF number 145/004, was scheduled for April 2017.

Methods: The guidelines were developed by 13 scientific societies and 2 patient self-help organizations coordinated by the German Pain Society. Working groups (n = 8) with a total of 42 members were formed balanced with respect to gender, medical expertise, position in the medical or scientific hierarchy and potential conflicts of interest.

[Etiology and pathophysiology of fibromyalgia syndrome : Updated guidelines 2017, overview of systematic review articles and overview of studies on small fiber neuropathy in FMS subgroups].

Background: The regular update of the guidelines on fibromyalgia syndrome, AWMF number 145/004, was planned for April 2017.

Methods: The guidelines were developed by 13 scientific societies and 2 patient self-help organizations coordinated by the German Pain Society. Working groups (n =8) with a total of 42 members were formed balanced with respect to gender, medical expertise, position in the medical or scientific hierarchy and potential conflicts of interest.