The Excess of Carriers in Rare Disorders Suggests a Nonpathogenic Effect for Most Variants of Uncertain Significance.

Functional annotation and interpretation of genetic variants are a critical step in genetic diagnosis, as it may lead to personalized therapeutic options and genetic counseling. While the number of confirmed pathogenic genetic variants in an individual is relatively low, the number of variants of uncertain significance (VOUS) can be considerably higher, increasing the number of potential carriers of genetic disorders. Thus, reducing uncertainty and assessing the real effect of VOUS are crucial for clinical and medical genetics.

Spatial versus spatio-temporal approaches for studying metacommunities: a multi-taxon analysis in Mediterranean and tropical temporary ponds.

Prior research on metacommunities has largely focused on snapshot surveys, often overlooking temporal dynamics. In this study, our aim was to compare the insights obtained from metacommunity analyses based on a spatial approach repeated over time, with a spatio-temporal approach that consolidates all data into a single model. We empirically assessed the influence of temporal variation in the environment and spatial connectivity on the structure of metacommunities in tropical and Mediterranean temporary ponds.

Tracking environmental changes in restored Mediterranean dune slacks.

Restoration is an ecological tool that aims to recover the prior conditions and functioning of a degraded habitat. Three restoration projects targeted a dune slack system in the Eastern Iberian Peninsula and created a mosaic of ponds restored over three different periods: 1998, 2003 and 2007, the latter coinciding with the start of our study. Restoration works consisted of digging out the pond basin to its original morphometry.

Effects of Bacillus thuringiensis var. israelensis on nonstandard microcrustacean species isolated from field zooplankton communities.

The toxicity of Bacillus thuringiensis var. israelensis on zooplanktonic microcrustaceans was evaluated using individuals collected in coastal wetlands where this larvicide has been used for mosquito control over the last decades. We tested five zooplankton species that coexist with mosquito larvae: two copepods (both nauplii and adults of Tropocyclops prasinus and Acantocyclops americanus), and three cladocerans (Ceriodaphnia reticulata, Chydorus sphaericus, and Daphnia cf.

Human-mediated dispersal of aquatic invertebrates with waterproof footwear.

Human-mediated dispersal has rarely been considered in wetland conservation strategies at regional scales, yet high concern exists about this aspect for (inter-)national management considering invasive species in other aquatic systems. In this context, we aim at understanding the role of human-mediated dispersal by footwear in protected wetlands with high conservation value. Zooplankton and zoobenthos were sampled in 13 shallow lakes in central Spain and, at the same time, mud attached to waders was collected and later cultured in deionized water under laboratory conditions for 4 weeks.

Chest pain at rest in patients with coronary artery disease. Myocardial ischemia, esophageal dysfunction, or panic disorder?

Severe nonexertional (resting) chest pain may be due to myocardial ischemia, esophageal dysfunction, psychiatric disorder, or any combination thereof and frequently poses a difficult diagnostic challenge. Our aim was to investigate causes of chest pain in patients with coronary artery disease. Forty-five patients with angiographically proven obstructive coronary lesions and recurrent chest pain at rest were studied; 18 had refractory pain despite cardiac therapy (problem group), and 27 had documented myocardial ischemia (control group).

[Thoracic pain of esophageal origin. Assessment of 125 consecutive patients with resting angina and angiographically normal coronary arteries].

Background: The esophagus may be the origin of chest pain clinically indistinguishable from that of myocardial ischemia. Gastroesophageal reflux (GER) and esophageal motility disorders (EMDs) are the main causes of esophageal chest pain, and esophageal motility tests are important for an appropriate diagnosis. We studied 125 unselected patients with angiographically normal coronary arteries presenting with atypical (resting) angina which was shown not to be of cardiac origin.

Physical stability of different liposome compositions obtained by extrusion method.

Six different liposome compositions were evaluated according their physical stability. The compositions used were (in mole ratio): dipalmitoylphosphatidylcholine (DPPC): DPPC:cholesterol (CHOL) (1:1), DPPC:CHOL (1:6:1), DPPC:CHOL:sphingomyelin (SFM) (7:2:1), DPPC:CHOL:stearylamine (STE) (8:5:1) and DPPC:CHOL:dicetyl phosphate (DCP) (8:5:1). The liposomes were obtained by the extrusion method, through polycarbonate membranes of 0.

Prognostic value of exercise radionuclide angiography in low risk acute myocardial infarction survivors.

Patients with an uneventful course during hospital stay, which represent from 30 to 50% of all myocardial infarction survivors, still have an incidence of new coronary events up to 7% during the first year of follow-up. To assess the value of radionuclide angiography in predicting new coronary events in this low risk population, 93 patients without evidence of left ventricular failure or recurrent postinfarction angina underwent rest and exercise radionuclide angiography and treadmill exercise testing before hospital discharge. During follow-up (16 +/- 5 months, range 12 to 32) 14 patients developed new coronary events: two patients died, four had a new myocardial infarction and the remaining eight had unstable angina.

[The predictive value of ventricular function during exercise after a myocardial infarct].

To assess the prognostic value of exercise left ventricular function, and if this test improves the prognostic value of clinical data and exercise test, 146 patients (mean age 56 +/- 9 years) underwent rest and exercise radionuclide angiography, 10 days after myocardial infarction. During follow-up (mean 16 +/- 5 months), 32 patients had new coronary events: 5 died, 9 had a new myocardial infarction and the remaining 18 developed unstable angina (Class III-IV of the CCS classification). Patients with new coronary events had more frequently severe left ventricular failure (Killip III-IV) (15% vs 3%; p less than 0.

Encapsulation of doxorubicin in neutral liposomes by passive methods: evidence of drug-lipid interaction at neutral pH.

Doxorubicin, an antineoplastic agent, was encapsulated in liposomes of dipalmitoylphosphatidylcholine with or without cholesterol, by the extrusion procedure. Doxorubicin was added to the lipid before drying, or was present in the rehydration buffer, and the influence of the method of encapsulation on size and polydispersity was determined by photon correlation spectroscopy. Results showed an important interaction between doxorubicin and liposomes, although cholesterol-containing vesicles were those that underwent the strongest insertion of the drug.