Diagnosis and Management of Pediatric Diseases

A screenshot of some the most rapidly evolving fields in Neonatology and Pediatrics with articles reviewing some metabolic dysregulations as well as non-oncologic diseases that may occur in infancy, childhood, youth. The illustrative material with original photographs and drawings highlighting some pathogenetic concepts are keystones of this book

Digital Pathology: The Time Is Now to Bridge the Gap between Medicine and Technological Singularity

Digitalization of the imaging in radiology is a reality in several healthcare institutions worldwide. The challenges of filing, confidentiality, and manipulation have been brilliantly solved in radiology. However, digitalization of hematoxylin- and eosin-stained routine histological slides has shown slow movement. Although the application for external quality assurance is a reality for a pathologist with most of the continuing medical education programs utilizing virtual microscopy, the abandonment of traditional glass slides for routine diagnostics is far from the perspectives of many departments of laboratory medicine and pathology. Digital pathology images are captured as images by scanning and whole slide imaging/virtual microscopy can be obtained by microscopy (robotic) on an entire histological (microscopic) glass slide. Since 1986, services using telepathology for the transfer of images of anatomic pathology between detached locations have benefited countless patients globally, including the University of Alberta. The purpose of specialist recertification or re-validation for the Royal College of Pathologists of Canada belonging to the Royal College of Physicians and Surgeons of Canada and College of American Pathologists is a milestone in virtual reality. Challenges, such as high bandwidth requirement, electronic platforms, the stability of the operating systems, have been targeted and are improving enormously. The encryption of digital images may be a requirement for the accreditation of laboratory services—quantum computing results in quantum-mechanical phenomena, such as superposition and entanglement. Different from binary digital electronic computers based on transistors where data are encoded into binary digits (bits) with two different states (0 and 1), quantum computing uses quantum bits (qubits), which can be in superpositions of states. The use of quantum computing protocols on encrypted data is crucial for the permanent implementation of virtual pathology in hospitals and universities. Quantum computing may well represent the technological singularity to create new classifications and taxonomic rules in medicine

Insulin/IGF-1R, SIRT1, and FOXOs Pathways—An Intriguing Interaction Platform for Bone and Osteosarcoma

Aging is a substantial risk factor for the development of osteoarthritis (OA) and, probably, an essential substrate for the development of neoplastic disease of the bone, such as osteosarcoma, which is the most common malignant mesenchymal primary bone tumor. Genetic studies have established that the insulin/insulin-like growth factor 1 (IGF-1)/phosphatidylinositol-3 kinase (PI3K)/AKT (Protein Kinase B) signal transduction pathway is involved across species, including nematodes, fruit flies, and mammals. SIRT1, a phylogenetically-conserved family of deacetylases, seems to play pleiotropic effects in epithelial malignancies of the liver and interact with the IGF-1/PI3K/AKT signal transduction pathway. Some of the most critical processes in degenerative conditions may indeed include the insulin/IGF1R and SIRT1 signaling pathways as well as some specific transcription factors. The Forkhead box O (FOXO) transcription factors (FOXOs) control diverse cellular functions, such as metabolism, longevity, and cell death. FOXOs play a critical role in the IGF-1/PI3K/AKT signal transduction pathway. FOXOs can indeed be modulated to reduce age-related diseases. FOXOs have advantageous inhibitory effects on fibroblast and myofibroblast activation, which are accompanied by a subsequent excessive production of extracellular matrix. FOXOs can block or decrease the fibrosis levels in numerous organs. Previously, we observed a correlation between nuclear FOXO3 and high caspase-8 expression, which induces cellular apoptosis in response to harmful external stimuli. In this perspective, we emphasize the current advances and interactions involving the insulin/IGF1R, SIRT1, and FOXOs pathways in the bone and osteosarcoma for a better understanding of the mechanisms potentially underpinning tissue degeneration and tumorigenesis

Genetics of Biliary Atresia: A Work in Progress for a Disease with an Unavoidable Sequela into Liver Cirrhosis following Failure of Hepatic Portoenterostomy

The bile duct development may not be fully completed at birth, and this is quite a common event. Moreover, bile formation is immature, and there is a propensity for the neonate to develop cholestasis in the presence of a wide variety of insults that can damage the liver. A biliary atresia is a correctable form of infantile cholangiopathies. The Kasai hepatic portoenterostomy (HPE) is often performed and is successful if it is done at an early stage. However, HPE can fail, and the liver fate is inevitably a cirrhotic change. Biliary atresia is heterogeneous and may result from a combination of genetic factors, vascular, infective or toxic insults with activation of different genetic and immunological pathways. In this chapter, we will review some genes that may be highly relevant to biliary atresia, including not only PKHD1, JAG1, and CFTR, but also GPC1, ADD3 and others. Four genetic loci are considered as predisposition loci in biliary atresia, despite the absence of an etiologic mutation. The rare occurrence of biliary atresia in well-known genetic syndromes seems to suggest coincidental finding, but epigenetic aspects might play a significant role in contributing to the increase of biliary atresia rate

Vaccination: a question of social responsibility

Not requeste

Canine Liver Transplantation Model and the Intermediate Filaments of the Cytoskeleton of the Hepatocytes

Liver transplantation has been a successful therapy for liver failure. However, a significant number of recipients suffer from graft dysfunction. Considerably, ischemia and reperfusion (I/R) injury is the most important factor leading to organ dysfunction, although the pathogenesis has not been fully described. I/R injury have several established features that are accompanied by and/or linked to bile duct loss or ductopenia, cholestasis, and biliary ductular proliferations in the posttransplant liver biopsy. However, biliary marker levels increase usually only 5–7 days after transplantation. Intermediate filaments are one of the three cytoskeletal proteins that have a major role in liver protection and maintaining both cellular structure and integrity of eukaryotic cells. We reviewed the canine liver transplantation model as I/R injury model to delineate the intermediate filaments of the cytoskeleton that are probably the determinants in changing the phenotype of hepatocytes to cholangiocytes. Remarkably, this interesting feature seems to occur earlier than frank cholestasis. We speculate that I/R liver injury through a phenotypical switch of the hepatocytes may contribute to the poor outcome of the liver graft

BRCA1/2 mutation screening and LOH analysis of lung adenocarcinoma tissue in a multiple-cancer patient with a strong family history of breast cancer

BACKGROUND: Germline mutations in BRCA1/2 greatly elevate risks of breast and ovarian cancers, but the role of these genes in tumourigenesis of other cancer types is still being investigated. OBJECTIVE: We report on an investigation of BRCA1/2 mutations and their loss of heterozygosity (LOH) in a patient with a strong family history of breast cancer who was diagnosed with consecutive primary cervical, ovarian and lung carcinomas. METHODS AND RESULTS: BRCA1/2 mutation screening of the proband revealed a common familial breast- and ovarian cancer-associated germline BRCA2 mutation (3034del4bp). We then performed LOH analysis for BRCA2 in lung adenocarcinoma tissue of the patient. Using the laser-capture microdissection (LCM) technique, we obtained pure populations of neoplastic cells from which DNA could be extracted. Mutation analysis by denaturing high-performance liquid chromatography (DHPLC) and direct sequencing revealed loss of the mutant allele in the adenocarcinoma tumour tissue. CONCLUSION: To our knowledge, this is the first report of investigation for LOH for BRCA2 in primary lung adenocarcinoma tissue of a patient with multiple primary tumours related to a familial germline BRCA2 mutation. Interestingly, it was the mutant, not the wild-type, allele which was lost in the lung adenocarcinoma tissue

Mathematical models in nursing research

This paper discusses the use of advanced mathematical tools in nursing research, such as mathematical models used in medicine for description and prediction of experimental tumor growth. They are rarely used in nursing research, but fortunately in the last decade, their use is increased, particularly due to the artificial intelligence and Big Data, with great benefits for further development of nursing. Therefore, a strong interaction between nurses and mathematicians is needed to improve nursing research, and consequently the nurses performance in daily work

Continuity correction of Pearson’s chi-square test in 2x2 Contingency Tables: A mini-review on recent development

The Pearson’s chi-square test represents a nonparametric test more used in Biomedicine and Social Sciences, but it introduces an error for 2x2 contingency tables, when a discrete probability distribution is approximated with a continuous distribution. The first author to introduce the continuity correction of Pearson’s chi-square test has been Yates F. (1934). Unfortunately, Yates’s correction may tend to overcorrect of p-value, this can implicate an overly conservative result. Therefore many authors have introduced variants Pearson’s chi-square statistic, as alternative continuity correction to Yates’s correction. The goal of this paper is to describe the most recent continuity corrections, proposed for Pearson’s chi-square test