Theory of Coexistence of Superconductivity and Ferroelectricity : A Dynamical Symmetry Model

We propose and investigate a model for the coexistence of Superconductivity (SC) and Ferroelectricity (FE) based on the dynamical symmetries $su(2)$ for the pseudo-spin SC sector, $h(4)$ for the displaced oscillator FE sector, and $su(2) \otimes h(4)$ for the composite system. We assume a minimal symmetry-allowed coupling, and simplify the hamiltonian using a double mean field approximation (DMFA). A variational coherent state (VCS) trial wave-function is used for the ground state: the energy, and the relevant order parameters for SC and FE are obtained. For positive sign of the SC-FE coupling coefficient, a non-zero value of either order parameter can suppress the other (FE polarization suppresses SC and vice versa). This gives some support to "Matthias' Conjecture" [1964], that SC and FE tend to be mutually exclusive. For such a Ferroelectric Superconductor we predict: a) the SC gap $\Delta$ (and $T_c$) will increase with increasing applied pressure when pressure quenches FE as in many ferroelectrics, and b) the FE polarization will increase with increaesing magnetic field up to $H_c$. The last result is equivalent to the prediction of a new type of Magneto-Electric Effect in a coexistent SC-FE material. Some discussion will be given of the relation of these results to the cuprate superconductors.Comment: 46 page

Confiabilidade da declaração de causa básica de mortes infantis em região metropolitana do sudeste do Brasil Reliability of the medical certificates of underlying cause of infant deaths in a metropolitan region of southeastern Brazil

A partir de dados coletados para um estudo sobre a mortalidade infantil na região metropolitana de Belo Horizonte, MG, Brasil, foi selecionada uma amostra aleatória de óbitos infantis ocorridos em 1989, para avaliar a concordância da causa básica de morte registrada na declaração de óbito e a obtida após revisão detalhada do prontuário hospitalar da criança. Verificou-se que 11,7% dos óbitos neonatais não tiveram a causa básica registrada no atestado, confirmada pela investigação nos prontuários médicos (kappa = 0,61), o mesmo ocorrendo em 44,0% dos pós-neonatais (kappa = 0,47). Esta maior discordância no grupo pós-neonatal provavelmente se deveu a maior dificuldade de definição das causas contribuintes e da causa básica dos óbitos por diarréias, pneumonias e desnutrição, principais causas de mortalidade nesse grupo. Em relação aos óbitos por desnutrição e diarréia, observou-se associação entre ambas em 76,9% das vezes em que a diarréia foi selecionada como causa básica, mostrando que essas patologias podem ser destacadas como um mesmo grupamento em saúde pública. As discordâcias encontradas demonstram que os médicos ainda dão pouca importância ao seu papel como agentes geradores de informação de saúde. Os dados da declaração de óbito fornecem indicação razoável das principais causas de mortes infantis, principalmente quando se considera o grupamento diarréia-pneumonia-desnutrição, composto de patologias evitáveis e ainda de grande relevância como causa de mortalidade infantil na região.<br>The quality of official information on underlying causes of infant deaths was studied on the basis of data collected for a popullation-based study of the surveillance of infant mortality in the metropolitan region of Belo Horizonte, Brazil in 1989. The survey included the analysis of a sample of infant deaths carried out by comparing the underlying causes of death as coded on death certificates to those recorded by a group of doctors who abstracted information from hospital records. We verified that 11.7% of neonatal deaths did not have the underlying cause of death confirmed by the investigation (kappa=0.61), and neither did 44.0% of post-neonatal deaths (kappa=0.47). It is believed that this major disagreement among post-neonatal deaths is due to the close correlation observed among the major causes of death within this group (pneumonia, diarrhoea and malnutrition). For example, associated malnutrition was observed in 76.9% of those cases in which diarrhoea was coded as the underlying cause of death. It was concluded that the quality of the death certificates is not satisfactory. However, the composition of the main groups of causes presented no significant alteration after investigation and may be used in public health surveillance, especially if we regard pneumonia, diarrhoea and malnutrition as a group with the same determinants. Unfortunately, this group still accounts for a great number of otherwise avoidable deaths in Brazil

Aberrant phase separation and nucleolar dysfunction in rare genetic diseases.

Thousands of genetic variants in protein-coding genes have been linked to disease. However, the functional impact of most variants is unknown as they occur within intrinsically disordered protein regions that have poorly defined functions(1-3). Intrinsically disordered regions can mediate phase separation and the formation of biomolecular condensates, such as the nucleolus(4,5). This suggests that mutations in disordered proteins may alter condensate properties and function(6-8). Here we show that a subset of disease-associated variants in disordered regions alter phase separation, cause mispartitioning into the nucleolus and disrupt nucleolar function. We discover de novo frameshift variants in HMGB1 that cause brachyphalangy, polydactyly and tibial aplasia syndrome, a rare complex malformation syndrome. The frameshifts replace the intrinsically disordered acidic tail of HMGB1 with an arginine-rich basic tail. The mutant tail alters HMGB1 phase separation, enhances its partitioning into the nucleolus and causes nucleolar dysfunction. We built a catalogue of more than 200,000 variants in disordered carboxy-terminal tails and identified more than 600 frameshifts that create arginine-rich basic tails in transcription factors and other proteins. For 12 out of the 13 disease-associated variants tested, the mutation enhanced partitioning into the nucleolus, and several variants altered rRNA biogenesis. These data identify the cause of a rare complex syndrome and suggest that a large number of genetic variants may dysregulate nucleoli and other biomolecular condensates in humans

Somatic APC mosaicism and oligogenic inheritance in genetically unsolved colorectal adenomatous polyposis patients

Germline variants in the APC gene cause familial adenomatous polyposis. Inherited variants in MutYH, POLE, POLD1, NTHL1, and MSH3 genes and somatic APC mosaicism have been reported as alternative causes of polyposis. However, ~30\ue2\u80\u9350% of cases of polyposis remain genetically unsolved. Thus, the aim of this study was to investigate the genetic causes of unexplained adenomatous polyposis. Eight sporadic cases with &gt;20 adenomatous polyps by 35 years of age or &gt;50 adenomatous polyps by 55 years of age, and no causative germline variants in APC and/or MutYH, were enrolled from a cohort of 56 subjects with adenomatous colorectal polyposis. APC gene mosaicism was investigated on DNA from colonic adenomas by Sanger sequencing or Whole Exome Sequencing (WES). Mosaicism extension to other tissues (peripheral blood, saliva, hair follicles) was evaluated using Sanger sequencing and/or digital PCR. APC second hit was investigated in adenomas from mosaic patients. WES was performed on DNA from peripheral blood to identify additional polyposis candidate variants. We identified APC mosaicism in 50% of patients. In three cases mosaicism was restricted to the colon, while in one it also extended to the duodenum and saliva. One patient without APC mosaicism, carrying an APC in-frame deletion of uncertain significance, was found to harbor rare germline variants in OGG1, POLQ, and EXO1 genes. In conclusion, our restrictive selection criteria improved the detection of mosaic APC patients. In addition, we showed for the first time that an oligogenic inheritance of rare variants might have a cooperative role in sporadic colorectal polyposis onset