Small Fermi energy and phonon anharmonicity in MgB_2 and related compounds

The remarkable anharmonicity of the E_{2g} phonon in MgB_2 has been suggested in literature to play a primary role in its superconducting pairing. We investigate, by means of LDA calculations, the microscopic origin of such an anharmonicity in MgB_2, AlB_2, and in hole-doped graphite. We find that the anharmonic character of the E_{2g} phonon is essentially driven by the small Fermi energy of the sigma holes. We present a simple analytic model which allows us to understand in microscopic terms the role of the small Fermi energy and of the electronic structure. The relation between anharmonicity and nonadiabaticity is pointed out and discussed in relation to various materials.Comment: 5 pages, 2 figures replaced with final version, accepted on Physical Review

Loss-of-function ABCC8 mutations in pulmonary arterial hypertension

Background: In pulmonary arterial hypertension (PAH), pathological changes in pulmonary arterioles progressively raise pulmonary artery pressure and increase pulmonary vascular resistance, leading to right heart failure and high mortality rates. Recently, the first potassium channelopathy in PAH, because of mutations in KCNK3, was identified as a genetic cause and pharmacological target. Methods: Exome sequencing was performed to identify novel genes in a cohort of 99 pediatric and 134 adult-onset group I PAH patients. Novel rare variants in the gene identified were independently identified in a cohort of 680 adult-onset patients. Variants were expressed in COS cells and function assessed by patch-clamp and rubidium flux analysis. Results: We identified a de novo novel heterozygous predicted deleterious missense variant c.G2873A (p.R958H) in ABCC8 in a child with idiopathic PAH. We then evaluated all individuals in the original and a second cohort for rare or novel variants in ABCC8 and identified 11 additional heterozygous predicted damaging ABCC8 variants. ABCC8 encodes SUR1 (sulfonylurea receptor 1)—a regulatory subunit of the ATP-sensitive potassium channel. We observed loss of ATP-sensitive potassium channel function for all ABCC8 variants evaluated and pharmacological rescue of all channel currents in vitro by the SUR1 activator, diazoxide. Conclusions: Novel and rare missense variants in ABCC8 are associated with PAH. Identified ABCC8 mutations decreased ATP-sensitive potassium channel function, which was pharmacologically recovered

The role of area level social deprivation on childhood and adolescent consultation rate in primary care: a population based, cohort study

Abstract Background Studies show that children and adolescents in the most socially deprived areas (SDA) consult their general practitioner (GP) more often than those in the least socially deprived areas (Non-SDA). Given that GPs see a wide range of diseases, it is important to know which clinical diagnoses are shaped by socioeconomic factors. The primary objective was to determine the association between area level social deprivation and consultation rates in a pediatric population. The secondary objective was to explore this association across a wide range of clinical diagnoses. Methods A cohort study using the Rijnmond Primary Care Database (RPCD) was conducted. Between 2013 and 2020, a total of 69,861 patients aged 0 to 17 years registered with a GP were analysed. A consultation was defined as patient contact and entry of a diagnosis using the International Classification of Primary Care (ICPC-1) code. Associations between consultation rates, ICPC-1 codes and area level social deprivation were explored using a Poisson regression model. The incidence risk ratio (IRR) and 95% confidence interval (CI) were reported. Results Over the 7-year study period the consultation rate of the study population was 3.8 per person-years. The top 5 reasons for children and adolescents to consult their GP was related to skin, respiratory, general unspecified, musculoskeletal and digestive symptoms or diagnoses. Consultation rate was higher in SDA group compared to Non-SDA group (IRR 1.20, 95% CI 1.19–1.20). Consultation rate for ICPC-1 code related to pregnancy and family planning was significantly lower in SDA group compared to Non-SDA group. Upon further exploration of this code, SDA group were less likely to consult for oral contraception and more likely to contact a GP for induced termination of pregnancy compared to Non-SDA group (IRR 0.36; 95% CI 0.33–0.44 and IRR 2.94; 95% CI 1.58–5.46 respectively). Conclusions Overall, SDA group had higher GP consultation rates for the majority of clinical diagnoses except for pregnancy and family planning. In this latter category, adolescent females in SDA consulted less frequently for oral contraception. This study illustrates the need to understand the underlying health seeking behaviors of children and adolescents at different development phases of their lives

Avaliação da porosidade e placa férrica de raízes de arroz cultivado em hipoxia Evaluation of porosity and iron plaque on rice roots grown under hypoxia

A alta difusividade do oxigênio em diversos materiais dificulta a criação e, ou, manutenção de um ambiente livre de O2. As técnicas utilizadas são pouco eficientes na exclusão do O2 e, portanto, não expressam a condição do solo alagado. Os objetivos deste trabalho foram desenvolver um método para obtenção de raízes em condição de hipoxia e avaliar a placa férrica e a formação de aerênquima no arroz. Foi criada uma condição de hipoxia semelhante à do solo alagado em tanques de 50 L, explorando a capacidade de difusão do O2 por meio do vinil em contato com solo reduzido. Cada tanque preenchido com solo (Gleissolo háplico) recebeu cinco sacos de vinil e foi mantido alagado. Plantas dos genótipos IRGA 423 e IRGA 424 previamente cultivadas em campo foram coletadas, tendo as raízes cortadas junto ao colo, lavadas e um terço da lâmina foliar removido. Cada saco de vinil recebeu 12 plantas de cada genótipo e solução nutritiva. Após sete dias, as novas raízes adventícias formadas foram utilizadas na determinação da porosidade e a da placa férrica em segmentos de 0-2, 2-4 e 4-6 cm a partir da ponta da raiz. As raízes foram colocadas em contato com a solução de um solo em processo de redução por 4 h e a placa férrica determinada após a extração do Fe com HCl 0,5 mol L-1. A porosidade foi determinada pela aplicação de ciclos de vácuo, com auxílio de seringas. A diferença de peso antes e depois do tratamento com vácuo e entrada de água foi assumida como sendo a estimativa da magnitude do aerênquima ao longo da raiz. A eficácia do método foi testada com a produção de raízes adventícias em saco de vinil com aeração e hipoxia. A porosidade nas raízes foi maior em ambiente hipóxico, comparado à aeração. A porosidade foi maior na proximidade da base da planta e, à medida que a porosidade aumentou, houve aumento do conteúdo de Fe na superfície das raízes, indicando que a placa férrica pode servir como estimativa da formação de aerênquima no arroz. O método de obtenção de raízes foi eficiente em promover a eliminação de O2 do saco de vinil para estudar a formação do aerênquima.<br>The high oxygen diffusion in different materials makes the establishment and maintenance of oxygen-free environments difficult. The techniques used to obtain oxygen-free environments are little efficient and not representative of flooded soil conditions. The purpose of this study was to develop a method for obtaining roots in a hypoxic environment to evaluate iron plaque and aerenchyma formation in rice plants. A hypoxic condition similar to that of flooded soils was created in 50 L tanks, based on the oxygen diffusion capacity through vinyl plastic in contact with flooded soil. Each tank was filled with soil (Gley soil), five vinyl bags and then flooded. Rice plants of the genotypes IRGA 423 and IRGA 424 grown in the field were collected, the roots cut at the stem, washed and 1/3 of the leaves removed. Each bag was filled with 12 plants of each genotype and nutrient solution. After seven days, the new adventitious roots were used to determine the iron plaque and aerenchyma formation in the segments 0-2, 2-4 and 4-6 cm from the root tips. The roots were exposed the solution of a flooded soil for 4 hours. The iron plaque was determined in the root segments after iron extraction with HCl 0.5 mol L-1. Porosity was determined in vacuum cycles applied with a syringe. The weight difference before and after vacuum treatment and water entrance was assumed as estimate of the magnitude of the aerenchyma of the roots. The method was tested with the production of new adventitious roots in vinyl bags under aerated and hypoxic conditions. Root porosity was higher in the hypoxic than in the aerated environment. Porosity was higher near plant base and as porosity increased, iron increased near the root surface, indicating the iron plaque as a parameter to estimate aerenchyma formation in rice roots. The tested root-growth method was efficient in eliminating O2 from the vinyl bags to study aerenchyma formation