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Predicted Benign and Synonymous Variants in CYP11A1 Cause Primary Adrenal Insufficiency Through Missplicing.
(2019-01-01)
Primary adrenal insufficiency (PAI) is a potentially life-threatening condition that can present with nonspecific features and can be difficult to diagnose. We undertook next generation sequencing in a cohort of children ...
EAP1 regulation of GnRH promoter activity is important for human pubertal timing.
(Oxford University Press, 2019-01-04)
The initiation of puberty is orchestrated by an augmentation of gonadotropin-releasing hormone (GnRH) secretion from a few thousand hypothalamic neurons. Recent findings have indicated that the neuroendocrine control of ...
The current landscape of European registries for rare endocrine conditions
(BioScientifica, 2019-01)
Objective
To identify cross-border international registries for rare endocrine conditions that are led from Europe and to understand the extent of engagement with these registries within a network of reference centres ...
Development of a CRISPR/Cas9-based therapy for Hutchinson-Gilford progeria syndrome
(Nature Research, 2019-02-18)
CRISPR/Cas9-based therapies hold considerable promise for the treatment of genetic diseases. Among these, Hutchinson–Gilford progeria syndrome, caused by a point mutation in the LMNA gene, stands out as a potential candidate. ...
Prediction of individual life-years gained without cardiovascular events from lipid, blood pressure, glucose, and aspirin treatment based on data of more than 500 000 patients with Type 2 diabetes mellitus.
(Oxford University Press (OUP), 2019-01-09)
Aims: Although group-level effectiveness of lipid, blood pressure, glucose, and aspirin treatment for prevention of cardiovascular disease (CVD) has been proven by trials, important differences in absolute effectiveness ...
Efficacy and Safety of Incremental Dosing of a New Single-Pill Formulation of Perindopril and Amlodipine in the Management of Hypertension.
(Springer International Publishing, 2019-03-28)
BACKGROUND: Angiotensin-converting enzyme inhibitors and calcium channel blockers in combination are widely recommended in hypertension guidelines. The advantages of single-pill combinations (SPCs) are increasingly recognized, ...
Cardiac vagal dysfunction and myocardial injury after non-cardiac surgery: a planned secondary analysis of the measurement of Exercise Tolerance before surgery study.
(2019-02)
BACKGROUND: The aetiology of perioperative myocardial injury is poorly understood and not clearly linked to pre-existing cardiovascular disease. We hypothesised that loss of cardioprotective vagal tone [defined by impaired ...
Cardiac vagal dysfunction and myocardial injury after non-cardiac surgery: a planned secondary analysis of the measurement of Exercise Tolerance before surgery study
(2019-01-01)
© 2018 The Author(s) Background: The aetiology of perioperative myocardial injury is poorly understood and not clearly linked to pre-existing cardiovascular disease. We hypothesised that loss of cardioprotective vagal tone ...
Authors' Reply to Kindermann et al.'s Comment on: "Athlete's Heart: Diagnostic Challenges and Future Perspectives".
(Springer Link, 2019-01-08)
We thank Prof. Wilfried Kindermann and colleagues for their interest in our publication [1] and for the important comments raised in their letter [2]. They understandably underscore the importance of a step-wise approach ...