Assessment of Comorbidity in Bariatric Patients through a Biomarker-Based Model-A Multicenter Validation of the Metabolic Health Index.

Background: The metabolic health index (MHI) is a biomarker-based model that objectively assesses the cumulative impact of comorbidities type 2 diabetes mellitus, hypertension and dyslipidemia on the health state of bariatric patients. The MHI was developed on a single-center cohort using a fully laboratory data-driven approach, resulting in a MHI score on a range from 1 to 6. To show universal applicability in clinical care, the MHI was validated externally and potential laboratory-related shortcomings were evaluated.

[Hyponatraemia].

Because hyponatraemia can be caused by many disorders, the diagnostic approach to hyponatraemia can be challenging for physicians. Causes of hyponatraemia can be classified according to a combination of laboratory parameters (e.g.

The influence of sex, gestational age, birth weight, blood transfusion, and timing of the heel prick on the pancreatitis-associated protein concentration in newborn screening for cystic fibrosis.

Background: Pancreatitis-associated protein (PAP) is currently discussed as a marker in newborn screening (NBS) for cystic fibrosis (CF). However, it is not known if PAP concentrations are influenced by sex, gestational age, birth weight, blood transfusion or time of collection and what this would mean for NBS for CF.

Methods: In 2008 all newborns in part of the Netherlands were screened for CF by an IRT/PAP protocol.

Novel strategies in newborn screening for cystic fibrosis: a prospective controlled study.

Context: Newborn screening for cystic fibrosis (CF) is included in many routine programmes but current strategies have considerable drawbacks, such as false-positive tests, equivocal diagnosis and detection of carriers.

Objective: To assess the test performance of two newborn screening strategies for CF.

Design, Setting And Participants: In 2008 and 2009, CF screening was added to the routine screening programme as a prospective study in part of The Netherlands.

Impaired complex I assembly in a Leigh syndrome patient with a novel missense mutation in the ND6 gene.

We describe a novel mutation in the ND6 gene (T14487C) in a patient with Leigh syndrome. Biochemical analyses indicated a low complex I activity in the patient's fibroblasts but normal values in muscle and liver. Cybrid clones showed a specific complex I defect that correlates with the mutant heteroplasmy levels.