Biallelic variants in LIG3 cause a novel mitochondrial neurogastrointestinal encephalomyopathy.

Abnormal gut motility is a feature of several mitochondrial encephalomyopathies, and mutations in genes such as TYMP and POLG, have been linked to these rare diseases. The human genome encodes three DNA ligases, of which only one, ligase III (LIG3), has a mitochondrial splice variant and is crucial for mitochondrial health. We investigated the effect of reduced LIG3 activity and resulting mitochondrial dysfunction in seven patients from three independent families, who showed the common occurrence of gut dysmotility and neurological manifestations reminiscent of mitochondrial neurogastrointestinal encephalomyopathy.

How to learn skilled communication in primary care MUS consultations: a focus group study.

Background: Many general practitioners (GPs) experience communication problems in medically unexplained symptoms (MUS) consultations as they are insufficiently equipped with adequate communication skills or do not apply these in MUS consultations.

Objective: To define the most important learnable communication elements during MUS consultations according to MUS patients, GPs, MUS experts and teachers and to explore how these elements should be taught to GPs and GP trainees.

Methods: Five focus groups were conducted with homogeneous groups of MUS patients, GPs, MUS experts and teachers.

General practitioners' perspectives on management of early-stage chronic kidney disease: a focus group study.

Background: Guideline adherence in chronic kidney disease management is low, despite guideline implementation initiatives. Knowing general practitioners' (GPs') perspectives of management of early-stage chronic kidney disease (CKD) and the applicability of the national interdisciplinary guideline could support strategies to improve quality of care.

Method: Qualitative focus group study with 27 GPs in the Netherlands.

How family physicians address diagnosis and management of depression in palliative care patients.

Purpose: Depression is highly prevalent in palliative care patients. In clinical practice, there is concern about both insufficient and excessive diagnosis and treatment of depression. In the Netherlands, family physicians have a central role in delivering palliative care.

Hereditary leiomyomatosis and renal cell cancer in families referred for fumarate hydratase germline mutation analysis.

Heterozygous fumarate hydratase (FH) germline mutations cause hereditary leiomyomatosis and renal cell cancer (HLRCC), an autosomal dominant syndrome characterized by multiple cutaneous piloleiomyomas, uterine leiomyomas and papillary type 2 renal cancer. The main objective of our study was to evaluate clinical and genetic data from families suspected of HLRCC on a nationwide level. All families referred for FH mutation analysis in the Netherlands were assessed.