Gas exchange during storage and incubation of Avian eggs: Effects on embryogenesis, hatchability, chick quality and post-hatch growth

Embryonic development is a dynamic process that requires a fine balance between several factors in order to achieve an optimum hatchability and chick quality. These factors include the background of the embryo, such as genetic line of the breeders, the age of the breeder, egg weight, and factors related to the environment in which the egg is stored and incubated, such as temperature, humidity, gas levels and altitude. Gas exchanges are of fundamental importance for embryonic development during incubation and may affect the livability of the embryo. This paper reviews the roles of the gaseous environment (i.e. O 2 and CO2) around hatching eggs during storage and during incubation and the effect it might have on the survival of the developing embryos and the chicks that hatch. The state of the art on the different attempts to establish the optimum requirements of different gases that promote the optimal developmental trajectories at different periods during incubation is presented. The roles and consequences of different levels of O2 and CO2 during storage and incubation on hatchability, incubation duration, hatching process, embryo growth, embryo mortality, organ development and morphology, metabolism, blood acid-base balance, chick quality and chick post-hatch growth are reviewed. © 2007 World's Poultry Science Association

Do we still need animals? Surveying the role of animal-free models in Alzheimer’s and Parkinson’s disease research

The use of animals in neuroscience and biomedical research remains controversial. Policy is built around the “3R” principle of “Refining, Reducing and Replacing” animal experiments, and across the globe, different initiatives stimulate the use of animal-free methods. Based on an extensive literature screen to map the development and adoption of animal-free methods in Alzheimer's and Parkinson's disease research, we find that at least two in three examined studies rely on animals or on animal-derived models. Among the animal-free studies, the relative contribution of innovative models that may replace animal experiments is limited. We argue that the distinction between animal research and alternative models presents a false dichotomy, as the role and scientific value of both animal and animal-free approaches are intertwined. Calls to halt all animal experiments appear premature, as insufficient non-animal-based alternatives are available and their development lags behind. In light of this, we highlight the need for objective, unprejudiced monitoring, and more robust performance indicators of animal-free approaches

Ring resonator based SOI biosensors

In this paper, two recent advances in silicon ring resonator biosensors are presented. First, we address the problem that due to the high index contrast, small deviations from perfect symmetry lift the degeneracy of the normal resonator mode. This severely deteriorates the quality of the output signal. To address this, we discuss an integrated interferometric approach to give access to the unsplit, high-quality normal modes of the microring resonator. Second, we demonstrate how digital microfluidics can be used for effective fluid delivery to nanophotonic microring resonator sensors fully constructed in SOI

Management strategy after diagnosis of Abernethy malformation: a case report

<p>Abstract</p> <p>Introduction</p> <p>The Abernethy malformation is a rare anomaly with a widely variable clinical presentation. Many diagnostic dilemmas have been reported. Nowadays, with the evolution of medical imaging, diagnosis can be made more easily, but management of patients with an Abernethy malformation is still open for discussion.</p> <p>Case presentation</p> <p>In this case study, we describe a 34-year-old Caucasian man who presented with a large hepatocellular carcinoma in the presence of an Abernethy malformation, which was complicated by the development of pulmonary arterial hypertension.</p> <p>Conclusion</p> <p>This case underlines the importance of regular examination of patients with an Abernethy malformation, even in older patients, to prevent complications and to detect liver lesions at an early stage.</p

Should patients with Phosphomannomutase 2-CDG (PMM2-CDG) be screened for adrenal insufficiency?

PMM2-CDG is the most common congenital disorder of glycosylation (CDG) accounting for almost 65% of known CDG cases affecting N-glycosylation. Abnormalities in N-glycosylation could have a negative impact on many endocrine axes. There is very little known on the effect of impaired N-glycosylation on the hypothalamic-pituitary-adrenal axis function and whether CDG patients are at risk of secondary adrenal insufficiency and decreased adrenal cortisol production. Cortisol and ACTH concentrations were simultaneously measured between 7:44 am to 1 pm in forty-three subjects (20 female, median age 12.8 years, range 0.1 to 48.6 years) participating in an ongoing international, multi-center Natural History study for PMM2-CDG (ClinicalTrials.gov Identifier: NCT03173300). Of the 43 subjects, 11 (25.6%) had cortisol below 5 μg/dl and low to normal ACTH levels, suggestive of secondary adrenal insufficiency. Two of the 11 subjects have confirmed central adrenal insufficiency and are on hydrocortisone replacement and/or stress dosing during illness; 3 had normal and 1 had subnormal cortisol response to ACTH low-dose stimulation test but has not yet been started on therapy; the remaining 5 have upcoming stimulation testing planned. Our findings suggest that patients with PMM2-CDG may be at risk for adrenal insufficiency. Monitoring of morning cortisol and ACTH levels should be part of the standard care in patients with PMM2-CDG.Glycomine, Inc. was the sponsor of this study, and was involved in the study design and in the and interpretation of data; in the writing of the report; and in the decision to submit the article for publication. Several authors of this publication are members of the European Reference Network for Rare Hereditary Metabolic Disorders (MetabERN) - Project ID No 739543.info:eu-repo/semantics/publishedVersio

Novel GAA Variants and Mosaicism in Pompe Disease Identified by Extended Analyses of Patients with an Incomplete DNA Diagnosis

Pompe disease is a metabolic disorder caused by a deficiency of the glycogen-hydrolyzing lysosomal enzyme acid α-glucosidase (GAA), which leads to progressive muscle wasting. This autosomal-recessive disorder is the result of disease-associated variants located in the GAA gene. In the present study, we performed extended molecular diagnostic analysis to identify novel disease-associated variants in six suspected Pompe patients from four different families for which conventional diagnostic assays were insufficient. Additional assays, such as a generic-splicing assay, minigene analysis, SNP array analysis, and targeted Sanger sequencing, allowed the identification of an exonic deletion, a promoter deletion, and a novel splicing variant located in the 5′ UTR. Furthermore, we describe the diagnostic process for an infantile patient with an atypical phenotype, consisting of left ventricular hypertrophy but no signs of muscle weakness or motor problems. This led to the identification of a genetic mosaicism for a very severe GAA variant caused by a segmental uniparental isodisomy (UPD). With this study, we aim to emphasize the need for additional analyses to detect new disease-associated GAA variants and non-Mendelian genotypes in Pompe disease where conventional DNA diagnostic assays are insufficient