Franks Schaefer

Consanguinity was positive in 18 families of the cohort (69.0%). Seven patients showed homozygous mutations. Five patients had heterozygous mutations. There were six patients with VUS and six patients had negative WES results. Whole exome sequencing showed a high diagnostic rate in this group of children with variable neurological…[Read more]

The analysis was carried out from a model that presents a broad and complex view of science, as it addresses several areas of knowledge and specific aspects of each of them and proposes the generation of one’s view of science from an integration of some of its distinct areas and/or aspects. The results show the current pandemic is a rich…[Read more]

The Spanish COPD Guidelines (GesEPOC) were first published in 2012, and since then have undergone a series of updates incorporating new evidence on the diagnosis and treatment of COPD. GesEPOC was drawn up in partnership with scientific societies involved in the treatment of COPD and the Spanish Patients’ Forum. Their recommendations are based on…[Read more]

Anion vacancy migration in the orthorhombic Pnma phase of the lead-halide perovskite CsPbBr3 under hydrostatic pressure is studied computationally. Density functional theory calculations are used to determine transition states, activation enthalpies, and attempt frequencies for vacancies to hop between nearby lattice sites, under pressure in the…[Read more]

Subjects with impaired fasting glucose, impaired glucose tolerance or any OGTT glucose concentration ≥200mg/dL were excluded.

Cases (10.5y ) exhibited reduced DI (p<0.001) due to a simultaneous reduction in both φtotal (p<0.001) and SI (p=0.008) compared to controls (11.5y ). CL0 and CL180 were lower in cases than controls (p=0.005 and p=…[Read more]

06), isolated ALT elevation (OR = 4.00), and both GGT + ALT elevation group (OR = 4.17) than the control group. Linear regression analysis revealed a positive association between GGT/ALT value and hepatic steatosis degree, GGT value, and degree of hepatic fibrosis. Hence, GGT elevation is associated with MetS, hepatic steatosis, and fibrosis in…[Read more]