Detection of elusive DNA copy-number variations in hereditary disease and cancer through the use of noncoding and off-target sequencing reads.

Copy-number variants (CNVs) play a substantial role in the molecular pathogenesis of hereditary disease and cancer, as well as in normal human interindividual variation. However, they are still rather difficult to identify in mainstream sequencing projects, especially involving exome sequencing, because they often occur in DNA regions that are not targeted for analysis. To overcome this problem, we developed OFF-PEAK, a user-friendly CNV detection tool that builds on a denoising approach and the use of "off-target" DNA reads, which are usually discarded by sequencing pipelines.

Effects of the Glaucoma Drugs Latanoprost and Brimonidine on Corneal Temperature.

Purpose: The aim of this study was to investigate the effects of the glaucoma drugs latanoprost, brimonidine, and the combination of both on the central corneal temperature (CT) of healthy subjects by means of infrared thermography. Changes of the central CT may reflect changes of ocular blood flow.

Methods: Before application and during 2 hours after the application of latanoprost, brimonidine, or the combination of both in one eye, the CT in both eyes of 40 healthy subjects was measured repeatedly.

Cornea Thermography: Optimal Evaluation of the Outcome and the Resulting Reproducibility.

Purpose: The aim of the study was to establish a standardized quantitative evaluation of corneal temperature (CT) that includes anchoring reference points in the topography and minimization of artifacts. We further investigated the distribution and the short- and long-term reproducibility of the CT values, as well as the influence of the core temperatures.

Methods: The CT values in both eyes of 40 healthy subjects were measured through thermography.

Diurnal and menstrual cycles in body temperature are regulated differently: a 28-day ambulatory study in healthy women with thermal discomfort of cold extremities and controls.

Diurnal cycle variations in body-heat loss and heat production, and their resulting core body temperature (CBT), are relatively well investigated; however, little is known about their variations across the menstrual cycle under ambulatory conditions. The main purpose of this study was to determine whether menstrual cycle variations in distal and proximal skin temperatures exhibit similar patterns to those of diurnal variations, with lower internal heat conductance when CBT is high, i.e.

Diurnal blood pressure variations are associated with changes in distal-proximal skin temperature gradient.

It is generally assumed that skin vascular resistance contributes only to a small extent to total peripheral resistance and hence to blood pressure (BP). However, little is known about the impact of skin blood flow (SBF) changes on the diurnal variations of BP under ambulatory conditions. The main aim of the study was to determine whether diurnal patterns of distal SBF are related to mean arterial BP (MAP).

Half a pack of cigarettes a day more than doubles DNA breaks in circulating leukocytes.

Background: The mechanisms by which smoking induces damage is not known for all diseases. One mechanism believed to play a role is oxidative stress. Oxidative stress leads to cellular damage including DNA damage, particularly DNA breaks.

Smell perception in normal tension glaucoma patients.

Purpose: The aim of this study was to quantify the ability to identify odors in normal tension glaucoma (NTG) patients and healthy subjects with and without a primary vascular dysregulation (PVD).

Methods: Both self-assessment of smell perception and evaluation of odor identification by means of the 12-item odor identification test ("Sniffin' Sticks") were performed in the following groups of subjects: 1) 18 NTG patients with PVD (G+), 2) 18 NTG patients without PVD (G-), 3) 18 healthy subjects with PVD (H(+)) and 4) 18 healthy subjects without PVD (H-). The subjects self-assessment of smell perception was evaluated before the Sniffin' Sticks test by asking them to judge their ability to identify odors as either "average," "better than average," or "worse than average.