"It becomes your whole life"-Exploring experiences of reciprocal translocation carriers and their partners.

Reciprocal translocation carriers are often diagnosed when they are experiencing difficulties conceiving or after a pregnancy affected by an unbalanced set of chromosomes inherited from the balanced carrier parent. Having a reciprocal translocation is not uncommon; carriers can benefit from reproductive options to achieve a healthy, chromosomally balanced, pregnancy. The aim of this study was to explore the lived experience of carriers and their partners. We conducted 13 semi-structured telephone interviews. Participants were recruited through Victorian Clinical Genetics Services and interviews took place between May and September 2020. Interview transcripts were analyzed using thematic analysis. Reciprocal translocation carriers and their partners described long term emotional and reproductive impacts, with carrier status identified at the time of prenatal diagnosis having marked emotional consequences. Couples facing reproductive challenges found the diagnosis created uncertainty for their future. When considering a pregnancy, couples worried about experiencing a miscarriage; during pregnancy, there was a reluctance to have an invasive diagnostic procedure due to fearing the risk of losing an unaffected pregnancy. Adaptation to their new reality involved having access to accurate information, peer support and maintaining hope. Couples valued having the option to know the carrier status of their children. The complex impacts of carrying a reciprocal translocation highlight the importance of access to specialist genetic counseling services to ensure couples are supported in understanding the implications of their translocation.

Early-Onset Molecular Derangements in the Olfactory Bulb of Tg2576 Mice: Novel Insights Into the Stress-Responsive Olfactory Kinase Dynamics in Alzheimer's Disease.

The olfactory bulb (OB) is the first processing station in the olfactory pathway. Despite smell impairment, which is considered an early event in Alzheimer's disease (AD), little is known about the initial molecular disturbances that accompany the AD development at olfactory level. We have interrogated the time-dependent OB molecular landscape in Tg2576 AD mice prior to the appearance of neuropathological amyloid plaques (2-, and 6-month-old), using combinatorial omics analysis. The metabolic modulation induced by overproduction of human mutated amyloid precursor protein (APP) clearly differs between both time points. Besides the progressive perturbation of the APP interactome, functional network analysis unveiled an inverse regulation of downstream extracellular signal-regulated kinase (ERK1/2), and p38 mitogen-activated protein kinase (MAPK) routes in 2-month-old Tg2576 mice with respect to wild-type (WT) mice. In contrast, Akt and MAPK kinase 4 (SEK1)/ stress-activated protein kinase (SAPK) axis were parallel activated in the OB of 6-months-old-Tg2576 mice. Furthermore, a survival kinome profiling performed during the aging process (2-, 6-, and 18-month-old) revealed that olfactory APP overexpression leads to changes in the activation dynamics of protein kinase A (PKA), and SEK1/MKK4-SAPK/JNK between 6 and 18 months of age, when memory deficits appear and AD pathology is well established in transgenic mice. Interestingly, both olfactory pathways were differentially activated in a stage-dependent manner in human sporadic AD subjects with different neuropathological grading. Taken together, our data reflect the early impact of mutated APP on the OB molecular homeostasis, highlighting the progressive modulation of specific signaling pathways during the olfactory amyloidogenic pathology.

Influence of Structure-Directing Additives on the Properties of Poly(methylsilsesquioxane) Aerogel-Like Materials.

The effect of glycerol (GLY) and poly(ethylene glycol) (PEG) additives on the properties of silica aerogel-like monoliths obtained from methyltrimethoxysilane (MTMS) precursor was assessed. The tested molar ratios of additive/precursor were from 0 to 0.1 and the lowest bulk densities were obtained with a ratio of 0.025. When a washing step was performed in the sample containing the optimum PEG ratio, the bulk density could be reduced even further. The analysis of the material's microstructure allowed us to conclude that GLY, if added in an optimum amount, originates a narrower pore size distribution with a higher volume of mesopores and specific surface area. The PEG additive played a binder effect, leading to the filling of micropores and the appearance of large pores (macropores), which caused a reduction in the specific surface area. The reduction of the bulk density and the microstructural changes in the aerogels induced by adding a small amount of these additives confirm the possibility of fine control of properties of these lightweight materials. The achieved high porosity (97%) and low thermal conductivity (~35 mW·m-1·K-1) makes them suitable to be used as thermal insulators.

Brainstem stroke: anatomy, clinical and radiological findings.

Ischemic brainstem strokes constitute 10% of all ischemic brain strokes. Hemorrhagic complications are associated with an especially poor prognosis. Associated symptomatology includes vertigo, cranial nerve symptoms, and crossed or uncrossed corticospinal tract findings. Advanced neuroimaging techniques have become essential in the decision-making process of brainstem stroke management and may provide a means to identify those patients who may benefit from thrombolysis. Because many of the recommendations are based on limited data, additional research on treatment of acute brainstem stroke is needed.

La higiene de las manos en una unidad de cuidado intensivo / Hand Hygiene in an Intensive Care Unit

Objetivo: comprender cómo el equipo de salud valora, jerarquiza y prioriza la higiene de las manos en la unidad de cuidado intensivo de un hospital universitario.Materiales y métodos: metodología cualitativa con enfoque etnográfico. Los datos se construyeron por medio de la observación participante y entrevistas a médicos, enfermeras y auxiliares de enfermería participantes en el estudio, en la unidad de cuidado intensivo de un hospital universitario.Resultados: la higiene de las manos es una práctica contextualizada a condiciones tales como el paciente, el procedimiento y el mundo material, y lleva a los participantes a valorarla, ponderarla y priorizarla. Al profesional de enfermería se le ha delegado la tarea de supervisar el cumplimiento de dicha práctica, lo que le genera conflictos con los otros estamentos.Conclusiones: la higiene de las manos es considerada una práctica episódica, temporal, contextualizada, con restricciones e imperativa. Los participantes la ponderan y jerarquizan según el tipo de paciente, el tipo de procedimiento y el espacio físico donde se encuentre.