A Unifying Theory for SIDS

The Sudden Infant Death Syndrome (SIDS) has four distinctive characteristics that must be explained by any theory proposed for it. (1) A characteristic male fraction of approximately 0.61 for all postneonatal SIDS in the US; (2) a distinctive lognormal-type age distribution arising from zero at birth, mode at about 2 months, median at about 3 months, and an exponential decrease with age going towards zero beyond one year; (3) a marked decrease in SIDS rate from the discovery that changing the recommended infant sleep position from prone to supine reduced the rate of SIDS, but it did not change the form of the age or gender distributions cited above; (4) a seasonal variation, maximal in winter and minimal in summer, that implies subsets of SIDS displaying evidence of seasonal low-grade respiratory infection and nonseasonal neurological prematurity. A quadruple-risk model is presented that fits these conditions but requires confirmatory testing by finding a dominant X-linked allele protective against cerebral anoxia that is missing in SIDS

Ergonomic problems originating in the use of high-frequency and ultrasonic medical devices

Dieser Beitrag ist mit Zustimmung des Rechteinhabers aufgrund einer (DFG geförderten) Allianz- bzw. Nationallizenz frei zugänglich.This publication is with permission of the rights owner freely accessible due to an Alliance licence and a national licence (funded by the DFG, German Research Foundation) respectively.High-frequency and ultrasonic medical devices are widely used in laparoscopic surgical procedures. Using these devices can result in ergonomic problems. Two studies were performed: in a questionnaire surgeons were asked to evaluate laparoscopic surgical instruments. Based on the resulting 74 data sets it was possible to define various improvements to the design of instruments. In a subsequent field study 70 surgical procedures were observed to comprise user caused problems in the interaction with medical devices

Vergleich histopathologischer Scores in der Beurteilung der Meniskusdegeneration - Ihre Rolle beim Einsatz des Tissue Engineerings

Vergleich histopathologischer Scores in der Beurteilung der Meniskusdegeneration – Ihre Rolle beim Einsatz des Tissue Engineerings Nach wie vor führen Meniskusverletzungen häufig zu Operationen, bei denen Teile oder der gesamte Meniskus entfernt werden. Dies führt durch den Verlust von funktionalem Gewebe in vielen Fällen zu einer vorzeitigen Osteoarthrose. Daher sollen Tissue Engineering-Strategien eine Verbesserung in der Langzeitprognose nach Meniskusschäden erreichen. Vor dem Hintergrund von Transplantatversagern soll untersucht werden, ob die Beurteilung des resezierten Meniskusgewebes als eine Beschreibung des Tranplantatbettes Aussagen über die Performance eines Transplantates erlaubt. In dieser Arbeit wurden 68 Präparate nach verschiedenen Scores klassifiziert. Die Scores nach Pauli, Roth und Krenn wurden speziell für den Meniskusknorpel entwickelt, der Score nach Mankin wurde an Femurköpfen entwickelt, wird aber auch für die Schweregradbestimmung an Knorpel verwendet. Ziel war die Überprüfung, ob diese Scores an den gleichen Präparaten auch zu übereinstimmenden Schweregradeinteilungen kommen. Ein Vergleich der verwendeten Parameter sollte Rückschlüsse auf geeignete Kriterien für die Erfolgsaussichten eines Tissue-Engineering-Transplantats ermöglichen. Die experimentellen Ergebnisse der vorliegenden Untersuchung zeigen, dass die Scores mehrheitlich nicht zu übereinstimmenden Schweregradeinteilungen kommen. Bei den Scores nach Mankin und Pauli, die mehr als zwei Schweregrade unterscheiden, sind die Abweichungen erheblich: So lag im direkten Vergleich der beiden nur in 28% der Fälle eine übereinstimmende Schweregradeinteilung vor. Bei den Scores, die ausschließlich die Kategorien „gering geschädigt“ und „schwer geschädigt“ unterscheiden lag die Zahl der übereinstimmenden Schweregradeinteilungen bei 60%. Ein Grund für die große Diskrepanz der Ergebnisse könnte die Schwierigkeit sein festzulegen, was genau als pathologisch veränderter und was als unauffälliger Meniskus zu bewerten ist, weil der Meniskus sich beginnend ab der Geburt in einem steten Wandel befindet. Obwohl es einige übereinstimmende Parameter gibt, welche Veränderungen am Meniskus als pathologisch zu bewerten sind, ist die Gewichtung der einzelnen Parameter durchaus unterschiedlich in den getesteten Scores. Auch macht keiner der Autoren einen Vorschlag, welche Behandlung oder sonstige Konsequenz aufgrund des erfolgten Scorings erfolgen sollte oder könnte. Dabei könnten sie in Verbindung mit bildgebenden Verfahren eine gute Grundlage bieten, um eine Prognose über die Erfolgsaussichten eines Tissue Engineering-Transplantats zu machen. Daher ist eine weitere Erforschung der Grundlagen für die Weiterentwicklung des Tissue Engineering notwendig und wünschenswert

Concept mapping as a tool to break disciplinary boundaries: isomerism in biological systems

O mapeamento conceitual foi utilizado como uma ferramenta para verificar as mudanças conceituais de estudantes de Ensino Médio após a realização de atividades didáticas desenvolvidas durante as aulas de Química. O objetivo pedagógico a ser atingido foi romper as fronteiras que segregam o conhecimento científico em disciplinas isoladas. Os estudantes foram intencionalmente provocados a relacionar conceitos de Química e de Biologia, a fim de compreender melhor e explicar as conseqüências biológicas da isomeria. Os mapas conceituais elaborados pelos estudantes, antes e após as atividades propostas, evidenciaram o aparecimento de relações entre conceitos químicos e biológicos, que foram avaliadas qualitativamente. Este trabalho mostra que os mapas conceituais podem ser utilizados como ferramentas para auxiliar o professor na realização de práticas didáticas interdisciplinares na escola, bem como para acompanhar o progresso dos estudantes em direção à interdisciplinaridade.Concept mapping was used as a tool for checking the conceptual changes caused by didactic activities implemented during chemistry classes in high school. Its pedagogical aim was to break down the boundaries, which segregate scientific knowledge into isolated disciplines. The students were intentionally provoked to merge concepts from chemistry and biology, in order to better understand and explain the biological consequences of isomerism. The concept maps produced by the students before and after the activities confirmed the appearance of relationships among chemical and biological concepts, which were qualitatively evaluated. This work shows that concept maps can be used to follow the students' progress towards interdisciplinarity, and to help the teacher to devise future classroom activities to reinforce and to expand interdisciplinary relationships.Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq) - PIBI

Dark‑adaptation in the eyes of a lake and a sea population of opossum shrimp (Mysis relicta): retinoid isomer dynamics, rhodopsin regeneration, and recovery of light sensitivity

We have studied dark-adaptation at three levels in the eyes of the crustaceanMysis relictaover 2-3 weeks after exposing initially dark-adapted animals to strong white light: regeneration of 11-cisretinal through the retinoid cycle (by HPLC), restoration of native rhodopsin in photoreceptor membranes (by MSP), and recovery of eye photosensitivity (by ERG). We compare two model populations ("Sea", S-p, and "Lake", L-p) inhabiting, respectively, a low light and an extremely dark environment. 11-cisretinal reached 60-70% of the pre-exposure levels after 2 weeks in darkness in both populations. The only significant L-p/S(p)difference in the retinoid cycle was that L(p)had much higher levels of retinol, both basal and light-released. In S-p, rhodopsin restoration and eye photoresponse recovery parallelled 11-cisretinal regeneration. In L-p, however, even after 3 weeks only ca. 25% of the rhabdoms studied had incorporated new rhodopsin, and eye photosensitivity showed only incipient recovery from severe depression. The absorbance spectra of the majority of the L(p)rhabdoms stayed constant around 490-500 nm, consistent with metarhodopsin II dominance. We conclude that sensitivity recovery of S(p)eyes was rate-limited by the regeneration of 11-cisretinal, whilst that of L(p)eyes was limited by inertia in photoreceptor membrane turnover.Peer reviewe

Inhalation therapy in the next decade : Determinants of adherence to treatment in asthma and COPD

Peer reviewedPublisher PD

Next-generation sequencing in a large pedigree segregating visceral artery aneurysms suggests potential role of COL4A1/COL4A2 in disease etiology

Background Visceral artery aneurysms (VAAs) can be fatal if ruptured. Although a relatively rare incident, it holds a contemporary mortality rate of approximately 12%. VAAs have multiple possible causes, one of which is genetic predisposition. Here, we present a striking family with seven individuals affected by VAAs, and one individual affected by a visceral artery pseudoaneurysm. Methods We exome sequenced the affected family members and the parents of the proband to find a possible underlying genetic defect. As exome sequencing did not reveal any feasible protein-coding variants, we combined whole-genome sequencing of two individuals with linkage analysis to find a plausible non-coding culprit variant. Variants were ranked by the deep learning framework DeepSEA. Results Two of seven top-ranking variants, NC_000013.11:g.108154659C>T and NC_000013.11:g.110409638C>T, were found in all VAA-affected individuals, but not in the individual affected by the pseudoaneurysm. The second variant is in a candidate cis-regulatory element in the fourth intron of COL4A2, proximal to COL4A1. Conclusions As type IV collagens are essential for the stability and integrity of the vascular basement membrane and involved in vascular disease, we conclude that COL4A1 and COL4A2 are strong candidates for VAA susceptibility genes.Peer reviewe

In vivo electrophysiological characterization of TASK-1 deficient mice

Background/Aims: TASK-1 is a potassium channel predominantly expressed in heart and brain. We have previously shown that anesthetized TASK-1(-/-) mice have prolonged QT intervals in surface electrocardiograms (ECGs). In addition, heart rate variability quantified by time and frequency domain parameters was significantly altered in TASK-1(-/-) mice with a sympathetic preponderance. Aims of the present study were the analysis of QT intervals by telemetric ECGs, to determine potential influences of anesthesia and beta-adrenergic stimulation on repolarization in surface ECGs, to investigate in vivo electrophysiological parameters by intracardiac electrical stimulation and to quantify heart rate turbulence after ischemia/reperfusion or ventricular pacing in TASK-1(+/+) and TASK-1(-/-) mice. Methods: Rate corrected QT intervals (QTc) were recorded in conscious mice by telemetry and in surface ECGs following administration of various anesthetics (tribromoethanol (Avertin (R)), pentobarbital and isoflurane). TASK-1(+/+) and TASK-1(-/-) mice were characterized by programmed electrical stimulation using an intracardiac octapolar catheter. The baroreceptor reflex was analyzed by heart rate turbulence (turbulence onset and slope) after ischemia/reperfusion and by stimulated premature ventricular contractions

Genetic Panel Screening of Nearly 100 Mutations Reveals New Insights into the Breed Distribution of Risk Variants for Canine Hereditary Disorders

Background The growing number of identified genetic disease risk variants across dog breeds challenges the current state-of-the-art of population screening, veterinary molecular diagnostics, and genetic counseling. Multiplex screening of such variants is now technologically feasible, but its practical potential as a supportive tool for canine breeding, disease diagnostics, pet care, and genetics research is still unexplored. Results To demonstrate the utility of comprehensive genetic panel screening, we tested nearly 7000 dogs representing around 230 breeds for 93 disease-associated variants using a custom-designed genotyping microarray (the MyDogDNA1panel test). In addition to known breed disease-associated mutations, we discovered 15 risk variants in a total of 34 breeds in which their presence was previously undocumented. We followed up on seven of these genetic findings to demonstrate their clinical relevance. We report additional breeds harboring variants causing factor VII deficiency, hyperuricosuria, lens luxation, von Willebrand's disease, multifocal retinopathy, multidrug resistance, and rod-cone dysplasia. Moreover, we provide plausible molecular explanations for chondrodysplasia in the Chinook, cerebellar ataxia in the Norrbottenspitz, and familiar nephropathy in the Welsh Springer Spaniel. Conclusions These practical examples illustrate how genetic panel screening represents a comprehensive, efficient and powerful diagnostic and research discovery tool with a range of applications in veterinary care, disease research, and breeding. We conclude that several known disease alleles are more widespread across different breeds than previously recognized. However, careful follow up studies of any unexpected discoveries are essential to establish genotype-phenotype correlations, as is readiness to provide genetic counseling on their implications for the dog and its breed.Peer reviewe