BACKGROUND Sodium-glucose cotransporter 2 (SGLT2) inhibitors are a novel class of antihyperglycemic agents that improve glycemic control by increasing glycosuria. Additional benefits beyond glucose lowering include significant improvements in seated clinic blood pressure (BP), partly attributed to their diuretic-like actions. Less known are the effects of this class on 24-hour ambulatory BP, wh...

OBJECTIVES This study compared the effects of morning and evening dosing of amlodipine/valsartan combination on 24-h blood pressure (BP) in patients uncontrolled by amlodipine (5 mg). METHODS This was a multicenter study that used a prospective, randomized, open-label, blinded endpoint design. Patients with essential hypertension, who's ambulatory BP was uncontrolled after 4 weeks on amlodipi...

We report experiments designed to test homology dependence for gene conversion between duplicated chromosomal sequences in cultured mammalian cells. The experimental system is such that gene conversion events not associated with reciprocal exchange are recoverable. For this study four plasmids were constructed. Each contains a different duplication of the herpes simplex virus thymidine kinase (...

The novel Aristaless related homeobox gene, ARX, is widely expressed in the brain and is thought to play a key role in the regulation of brain development. Neurological phenotypes caused by ARX mutations have recently started to unfold. We describe a 72 year old man with X-linked mental retardation due to a 24 bp duplication mutation in exon 2 of the ARX gene. Cerebral MRI showed bilateral cyst...

Spinal muscular atrophy (SMA), the most common autosomal recessive cause of infant death, is typically diagnosed by determination of SMN1 copy number. Approximately 3-5% of patients with SMA retain at least one copy of the SMN1 gene carrying pathogenic insertions, deletions, or point mutations. We report a patient with SMA who is homozygous for two mutations carried in cis: an 8 bp duplication ...

The aim of this study is to evaluate the association between usual physical activity and 24 h blood pressure (BP) profile in people with type 2 diabetes mellitus (DM). This is a cross-sectional study of 151 participants with type 2 DM. Usual physical activity was assessed by step counting and self-reported questionnaire. BP was measured in office and by 24 h ambulatory BP monitoring (ABPM; 24 h...

Several papers have suggested that 24-hour average blood pressure (BP) is superior to office BP in relation to hypertension target organ damage. This review article will specifically address the evidence provided in this regard by either cross-sectional or longitudinal studies. It will also critically discuss the available data supporting the concept that not only 24-hour average BP values, but...