Search results for "WB"
showing 10 items of 1688 documents
Exposure to metals and metalloids among pregnant women from Spain: Levels and associated factors
2021
This study was funded by Grants from EU (FP7-ENV-2011 cod 282957 and HEALTH.2010.2.4.5-1); Spain: ISCIII (Red INMA G03/176, CB06/02/0041; FIS-FEDER: PI03/1615, PI04/1509, PI04/1112, PI04/1931, PI05/1079, PI05/1052, PI06/0867, PI06/1213, PI07/0314, PI09/00090, PI09/02647, PI11/01007, PI11/02591, PI11/02038, PI13/1944, PI13/2032, PI13/02187, PI14/00891, PI14/01687, PI16/1288, PI17/00663, PI18/01142 and PI19/1338; Miguel Servet FEDER MS15/00025, MS20/0006, CPII16/00051, and FIS-FSE: 17/00260); CIBERESP; Generalitat Valenciana: FISABIO (UGP 15-230, UGP-15-244, and UGP-15-249), AICO/2020/285, and Alicia Koplowitz Foundation 2017; Generalitat de Catalunya-CIRIT 1999SGR 00241; Department of Health…
Isolation and Culture of Oligodendrocytes
2019
Primary cultures of brain-derived rodent cells are widely used to study molecular and cellular mechanisms in neurobiology. In this chapter, we describe methods of purifying and culturing oligodendroglial cells from mouse perinatal brains. In addition, we describe methods of coculturing the purified oligodendrocytes with neurons. When prepared and cultured according to these protocols, many essential aspects of the biology of oligodendrocytes, such as their proliferation, differentiation, and myelination, can be studied in culture.
Does the evidence matter in medicine? The retinoblastoma paradigm.
2007
Retinoblastoma (Rb) is the most common intraocular malignant tumour in childhood, with an incidence of 1 in 15,000 live births. Complete information on this rare tumour can be easily accessed through the internet, although many aspect concerning the aetiology and pathogenesis of the disease, are still controversial. The "two hit" theory, formulated in 1971 to explain the variegated clinical expression of the disease, is based on the idea that single gene mutation may determine the development of cancer. However, this view does not take into account the most recent evidences showing the role of aneuploidy and chromosome instability in cancer. Also, a number of other genes and epigenetic mech…
Sense and Antisense DMPK RNA Foci Accumulate in DM1 Tissues during Development.
2015
International audience; Myotonic dystrophy type 1 (DM1) is caused by an unstable expanded CTG repeat located within the DMPK gene 3'UTR. The nature, severity and age at onset of DM1 symptoms are very variable in patients. Different forms of the disease are described, among which the congenital form (CDM) is the most severe. Molecular mechanisms of DM1 are well characterized for the adult form and involve accumulation of mutant DMPK RNA forming foci in the nucleus. These RNA foci sequester proteins from the MBNL family and deregulate CELF proteins. These proteins are involved in many cellular mechanisms such as alternative splicing, transcriptional, translational and post-translational regul…
The campomelic syndrome: review, report of 17 cases, and follow-up on the currently 17-year-old boy first reported by Maroteaux et al in 1971.
1983
We report 17 cases of the campomelic syndrome (CS) and a follow-up of one of the original patients of Maroteaux et al who is now 17 years old. Our review is based on 97 patients, including our own. An infant with the CS presents at birth with spectacularly short and bowed femora and tibiae. The initial chest radiograph confirms the diagnosis by demonstrating extremely small bladeless scapulae and hypoplastic pedicles of many thoracic vertebrae. Ossification of the sternal segments, pubis, talus, and knee epiphyses is also retarded. Usually the hips are dislocated and talipes equinovarus deformities are present. There is a small chondrocranium and a disproportionately large neurocranium. The…
Chondrodysplasia punctata, tibia-metacarpal (MT) type.
1990
We describe 7 patients with a new form of chondrodysplasia punctata. Its principal clinical manifestations are flat midface and nose, short limbs, and otherwise normal development. Consistent radiologic manifestations in the newborn infant are discrete calcific stippling, coronal clefts of vertebral bodies, short tibiae, and shortness of the 2nd and 3rd metacarpal bones. Radiologic findings in the older child include shortness of tibiae and the 3rd and 4th metacarpals.
Stippled epiphyses in fetal alcohol syndrome.
1990
We report on punctate epiphyseal calcifications (stippled epiphyses) in the fetal alcohol syndrome and present the differential diagnosis of chondrodysplasia punctata. A literature survey shows that epiphyseal calcifications accompanying alcoholic embryopathy are regularly located in the lower limbs and rarely found in the upper extremities.
Going through the lockdown: a longitudinal study on the psychological consequences of the coronavirus pandemic
2021
Coronavirus 2019 pandemic lockdown in Italy lasted for 2 months, 1 week and 2 days. During this long period, one of the longest in Europe, the restrictions produced effects on people’s psychological well-being, with consequences that also continued after lockdown. The purpose of the study is to investigate these effects and how they changed in the general population over a period of time. We are also interested in exploring people’s post-lockdown anxiety and concerns. We conducted an online survey using snowball sampling techniques. The longitudinal study consisted of four administrations covering a period of 10 weeks between April (baseline) and June (last follow-up). Levels of anxiety and…