Preimplantation genetic diagnosis (PGD) was originally developed to diagnose embryo-related genetic abnormalities for couples who present a high risk of a specific inherited disorder. Because this ...technology involves embryo selection, the medical, bioethical, and legal implications of the technique have been debated, particularly when it is used to select features that are not related to serious diseases. Although several initiatives have attempted to achieve regulatory harmonization, the diversity of healthcare services available and the presence of cultural differences have hampered attempts to achieve this goal. Thus, in different countries, the provision of PGD and regulatory frameworks reflect the perceptions of scientific groups, legislators, and society regarding this technology. In Brazil, several texts have been analyzed by the National Congress to regulate the use of assisted reproduction technologies. Legislative debates, however, are not conclusive, and limited information has been published on how PGD is specifically regulated. The country requires the development of new regulatory standards to ensure adequate access to this technology and to guarantee its safe practice. This study examined official documents published on PGD regulation in Brazil and demonstrated how little direct oversight of PGD currently exists. It provides relevant information to encourage reflection on a particular regulation model in a Brazilian context, and should serve as part of the basis to enable further reform of the clinical practice of PGD in the country.
Methods:
This is a cohort study, conducted at a university-based reproductive medicine center and private reproductive medicine center that aimed to evaluate granulosa cumulus cell gene expression in ...the insulin signaling pathway in Polycystic Ovary Syndrome (PCOS) patients undergoing in vitro fertilization (IVF) treatment and to compare the cumulus gene expression between normal weight and obese women without clinical insulin resistance. Fifteen PCOS patients, nine normal weight patients and six obese patients presenting normal HOMA IR (Homeostasis Model Assessment–Insulin Resistance), participated. Patients underwent oocyte retrieval for IVF and after the procedure, granulosa cumulus cells were removed from the oocytes for RNA extraction. Quantitative polymerase chain reaction (PCR) array analysis of 84 genes from insulin signaling pathway was conducted. The results were expressed as fold up- or fold down-expression in obese patients compared with normal weight patients. Any fold change ⩾3 or ⩽3 and any p ⩽ 0.05 were considered statistically significant.
Results:
There were 10 genes that were overexpressed in obese compared with normal weight women, BCL2L1, BRAF, CBL, DOK1, FBP1, FRS2, MTOR, PCK2, RPS6KA1, and SORBS1, that had a fold change ⩾3 and p ⩽ 0.05.
Discussion:
In the obese group, the overexpressed genes are mainly responsible for the proliferation and differentiation of cumulus cells during oocyte maturation, insulin resistance, apoptosis regulation, and glucose metabolism during early embryogenesis, suggesting that in the follicular environment, insulin resistance is present even in the absence of clinical signs.
Conclusion:
Together, our findings and the related literature suggest that those alterations may be associated with the worse prognosis of follicular development and oocyte maturation observed in PCOS obese women.
The techniques researched, developed and applied towards the measurement of radioisotope concentrations at ultra-low levels in the real-time solar neutrino experiment BOREXINO at Gran Sasso are ...presented and illustrated with specific results of widespread interest. We report the use of low-level germanium gamma spectrometry, low-level miniaturized gas proportional counters and low background scintillation detectors developed in solar neutrino research. Each now sets records in its field. We additionally describe our techniques of radiochemical ultra-pure, few atom manipulations and extractions. Forefront measurements also result from the powerful combination of neutron activation and low-level counting. Finally, with our techniques and commercially available mass spectrometry and atomic absorption spectroscopy, new low-level detection limits for isotopes of interest are obtained.
Short stature homeobox-containing (SHOX) gene mutations causing haploinsufficiency have been reported in idiopathic short stature, but the real prevalence of this defect in the population with growth ...failure is debated. Based on current data, the prevalence of SHOXdefect (SHOX-D) has been calculated to have occurred in at least 1 in 2,000 children. This occurrence rate is higher than that of classic GH deficiency or Turner syndrome. In all probability, the real prevalence of SHOX-D will increase in the future with the improvement of the genetic analysis with investigations for point mutations in the enhancer sequences or for deletions in other parts of this region. A selection criterion to individuate the most appropriate candidates eligible for the SHOX region analysis has been suggested based on the evaluation of a disproportional short stature. The efficacy of GH treatment in these patients has recently been demonstrated with results that are similar to those observed in Turner syndrome.
The International League Against Epilepsy (ILAE) classification recognizes 2 forms of myoclonic epilepsy with a good prognosis: benign myoclonic epilepsy of infancy (BMEI) and juvenile myoclonic ...epilepsy (JME); recent studies confirm the efficacy of levetiracetam (LEV) in treating idiopathic generalized epilepsies (IGE) in patients with myoclonic seizures. We report a girl referred to our Child Neuropsychiatry Unit at age 9 years because of massive myoclonic jerks, previously diagnosed as tics. Neuropsychological examination evidenced mild cognitive impairment. The clinical and electroencephalogram (EEG) data led to diagnosis of BMEI with late presentation. A dramatic suppression of interictal and ictal epileptiform activity was achieved after only one intake of LEV. Another neuropsychological examination after 6 months of treatment showed performance improvement probably related to EEG modifications. LEV may be suitable for the first-line treatment of myoclonic idiopathic seizures.
The drainage area is an important, non-local property of a landscape, which controls surface and subsurface hydrological fluxes. Its role in numerous ecohydrological and geomorphological applications ...has given rise to several numerical methods for its computation. However, its theoretical analysis has lagged behind. Only recently, an analytical definition for the specific catchment area was proposed (Gallant & Hutchinson. 2011 Water Resour. Res. 47, W05535. (doi:10.1029/2009WR008540)), with the derivation of a differential equation whose validity is limited to regular points of the watershed. Here, we show that such a differential equation can be derived from a continuity equation (Chen et al. 2014 Geomorphology 219, 68–86. (doi:10.1016/j.geomorph.2014.04.037)) and extend the theory to critical and singular points both by applying Gauss’s theorem and by means of a dynamical systems approach to define basins of attraction of local surface minima. Simple analytical examples as well as applications to more complex topographic surfaces are examined. The theoretical description of topographic features and properties, such as the drainage area, channel lines and watershed divides, can be broadly adopted to develop and test the numerical algorithms currently used in digital terrain analysis for the computation of the drainage area, as well as for the theoretical analysis of landscape evolution and stability.
We report the direct measurement of the 7Be solar neutrino signal rate performed with the Borexino detector at the Laboratori Nazionali del Gran Sasso and the search for a day–night asymmetry of this ...interaction rate. The interaction rate of the 0.862MeV 7Be neutrinos is 46±1.6(stat)−1.6+1.5(syst) counts/(day · 100ton). The hypothesis of no oscillation for this solar neutrinos is inconsistent with our measurement at the 5.8σ C.L. Our result is the first direct measurement of solar neutrinos with an accuracy better than 5%. We report the survival probability for solar νe in the transition region between matter-enhanced and vacuum-driven oscillations. The measured day night asymmetry is Adn=0.001±0.012 (stat)±0.007 (syst), in agreement with the predicition of MSW–LMA neutrino 13 oscillations. This result discourages MSW oscillations with mixing parameters in the LOW region at more than 8.5σ, meaning that this region is, for the first time, strongly rejected without the assumption of CPT symmetry. The result can also be used to constrain some neutrino oscillation scenarios involving new physics.
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