Knowledge of Dutch GPs in caring for cancer patients using oral anticancer therapy at home

The GP's role in cancer care is changing and will become increasingly important. One of the challenges for GPs in caring for cancer patients is their lack of specialized knowledge and the impossibility to keep up to date with developments in the field of oncology. We investigated GPs use of knowledge in the case of the increasing use of oral anticancer therapy at home. The objective of the study was to find out the needs for knowledge improvement for GPs in caring for cancer patients at home, by analysing what kinds of knowledge Dutch GPs use and the ways they obtain knowledge in their daily practice of caring for patients using oral anticancer therapy at home. Semi-structured in-depth interviews were conducted between July and November 2011 with 15 Dutch GPs. A thematic analysis of interview transcripts was conducted. GPs recognize their lack of specialized knowledge and their inability to keep up to date with developments in the field of oncology. The analysis shows that GPs use different kinds of knowledge and skills they already have to care for their patients and obtain valuable knowledge about oral anticancer therapy via and from their patients. Apart from formal training, GPs may be supported to strengthen the strategies they already use, i.e. to actively mobilize different types and sources of knowledge and use the patient as a source of knowledge in caring for oncology patients at hom

Identification of human D lactate dehydrogenase deficiency

Phenotypic and biochemical categorization of humans with detrimental variants can provide valuable information on gene function. We illustrate this with the identification of two different homozygous variants resulting in enzymatic loss-of-function in LDHD, encoding lactate dehydrogenase D, in two unrelated patients with elevated D-lactate urinary excretion and plasma concentrations. We establish the role of LDHD by demonstrating that LDHD loss-of-function in zebrafish results in increased concentrations of D-lactate. D-lactate levels are rescued by wildtype LDHD but not by patients' variant LDHD, confirming these variants' loss-of-function effect. This work provides the first in vivo evidence that LDHD is responsible for human D-lactate metabolism. This broadens the differential diagnosis of D-lactic acidosis, an increasingly recognized complication of short bowel syndrome with unpredictable onset and severity. With the expanding incidence of intestinal resection for disease or obesity, the elucidation of this metabolic pathway may have relevance for those patients with D-lactic acidosis

Identification of human D lactate dehydrogenase deficiency

Phenotypic and biochemical categorization of humans with detrimental variants can provide valuable information on gene function. We illustrate this with the identification of two different homozygous variants resulting in enzymatic loss-of-function in LDHD, encoding lactate dehydrogenase D, in two unrelated patients with elevated D-lactate urinary excretion and plasma concentrations. We establish the role of LDHD by demonstrating that LDHD loss-of-function in zebrafish results in increased concentrations of D-lactate. D-lactate levels are rescued by wildtype LDHD but not by patients' variant LDHD, confirming these variants' loss-of-function effect. This work provides the first in vivo evidence that LDHD is responsible for human D-lactate metabolism. This broadens the differential diagnosis of D-lactic acidosis, an increasingly recognized complication of short bowel syndrome with unpredictable onset and severity. With the expanding incidence of intestinal resection for disease or obesity, the elucidation of this metabolic pathway may have relevance for those patients with D-lactic acidosis