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Topic review
Updated time: 11 May 2021
Submitted by: Lisa Adams
Definition: This entry outlines recent preclinical and clinical advances in molecular imaging of abdominal aortic aneurysms (AAA) with a focus on molecular magnetic resonance imaging (MRI) of the extracellular matrix (ECM). In addition, developments in pharmacologic treatment of AAA targeting the ECM are reviewed and results from animal studies are contrasted with clinical trials. Abdominal aortic aneurysm (AAA) is an often fatal disease without non-invasive pharmacologic treatment options. The ECM, with collagen type I and elastin as major components, is the key structural component of the aortic wall and is recognized as a target tissue for both initiation and the progression of AAA. Molecular imaging allows in vivo measurement and characterization of biological processes at the cellular and molecular level and sets forth to visualize molecular abnormalities at an early stage of disease, facilitating novel diagnostic and therapeutic pathways. By providing surrogate criteria for the in vivo evaluation of the effects of pharmacological therapies, molecular imaging techniques targeting the ECM may facilitate the development of pharmacological drugs. In addition, molecular targets can also be used within theranostic approaches that have the potential for timely diagnosis and simultaneous medical therapy. Recent successes in preclinical studies suggest future opportunities for clinical translation. However, further clinical studies are needed to validate the most promising molecular targets for human application.
Topic review
Updated time: 21 Apr 2021
Submitted by: Berardino Vaira
Definition: H. pylori is a “fastidious” microorganism; culture methods are time-consuming and technically challenging. The advent of molecular biology techniques has enabled the identification of molecular mechanisms underlying the observed phenotypic resistance to antibiotics in H. pylori.
Entry Collection : Gastrointestinal Disease
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Topic review
Updated time: 23 Jun 2021
Submitted by: Sadegh Rajabi
Definition: Apoptosis is a multistep process that involves two major pathways to trigger a cascade of events leading to the fragmentation of chromatin, nuclear membrane, andcellshrinkage. However, when this physiological process tended to be dysregulated, many pathological transformations happen to develop cancer.
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Topic review
Updated time: 06 Jul 2021
Submitted by: Simina Crisan
Definition: Despite constant progress in understanding its pathology and associated therapeutic actions by targeting lifestyle changes and novel drug treatment strategies, arterial hypertension currently represents one of the major causes of cardiovascular morbidity and mortality in Europe, with severe potential complications. Significant distinct individual variations of responses to antihypertensive therapy suggest that genetic analysis may provide new important data regarding an accurate definition of prognosis and, most significantly, an adequate choice of treatment, therefore preventing potential complications. Data regarding the multifactorial genetic inheritance of essential arterial hypertension have long been considered; however, given the current rise of genetics and genomics, DNA sequencing could represent a step toward specific genetic variation-based therapy in hypertensive patients with uncontrolled blood pressure, despite standard antihypertensive treatment.
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Topic review
Updated time: 15 Jun 2021
Submitted by: Agnieszka Gornowicz
Definition: Autophagy is a process of self-degradation that plays an important role in removing damaged proteins, organelles or cellular fragments from the cell.
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Topic review
Updated time: 16 Jun 2021
Submitted by: Ivan Okhrimenko
Definition: Alzheimer’s disease (AD) is the most common type of neurodegenerative disease in the world. Genetic evidence strongly suggests that aberrant generation, aggregation, and/or clearance of neurotoxic amyloid-β peptides (Aβ) triggers the disease. Aβ accumulates at the points of contact of neurons in ordered cords and fibrils, forming the so-called senile plaques. Aβ isoforms of different lengths are found in healthy human brains regardless of age and appear to play a role in signaling pathways in the brain and to have neuroprotective properties at low concentrations. This entry describes molecular mechanisms of amyloid-β precursor protein processing in AD.
Entry Collection : Solid Tumors
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Topic review
Updated time: 11 Jun 2021
Submitted by: Stephen Ahenkorah
Definition: In contrast to external high energy photon or proton therapy, targeted radionuclide therapy (TRNT) is a systemic cancer treatment allowing targeted irradiation of a primary tumor and all its metastases, resulting in less collateral damage to normal tissues. The α-emitting radionuclide bismuth-213 (213Bi) has interesting properties and can be considered as a magic bullet for TRNT.
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Topic review
Updated time: 25 Mar 2021
Submitted by: ISAAC BALDWIN
Definition: The 15q11.2 BP1-BP2 deletion (Burnside-Butler) syndrome is emerging as the most common cytogenetic finding in patients with neurodevelopmental or autism spectrum disorders (ASD) presenting for microarray genetic testing. Clinical findings in Burnside-Butler syndrome include developmental and motor delays, congenital abnormalities, learning and behavioral problems, and abnormal brain findings. To better define symptom presentation, we performed comprehensive cognitive and behavioral testing, collected medical and family histories, and conducted clinical genetic evaluations. The 15q11.2 BP1-BP2 region includes theTUBGCP5,CYFIP1,NIPA1, andNIPA2genes. To determine if additional genomic variation outside of the 15q11.2 region influences expression of symptoms in Burnside-Butler syndrome, whole-exome sequencing was performed on the parents and affected children for the first time in five families with at least one parent and child with the 15q1l.2 BP1-BP2 deletion. In total, there were 453 genes with possibly damaging variants identified across all of the affected children. Of these, 99 genes had exclusively de novo variants and 107 had variants inherited exclusively from the parent without the deletion. There were three genes (APBB1,GOLGA2, andMEOX1) with de novo variants that encode proteins evidenced to interact with CYFIP1. In addition, one other gene of interest (FAT3) had variants inherited from the parent without the deletion and encoded a protein interacting with CYFIP1. The affected individuals commonly displayed a neurodevelopmental phenotype including ASD, speech delay, abnormal reflexes, and coordination issues along with craniofacial findings and orthopedic-related connective tissue problems. Of the 453 genes with variants, 35 were associated with ASD. On average, each affected child had variants in 6 distinct ASD-associated genes (x¯= 6.33, sd = 3.01). In addition, 32 genes with variants were included on clinical testing panels from Clinical Laboratory Improvement Amendments (CLIA) approved and accredited commercial laboratories reflecting other observed phenotypes. Notably, the dataset analyzed in this study was small and reported results will require validation in larger samples as well as functional follow-up. Regardless, we anticipate that results from our study will inform future research into the genetic factors influencing diverse symptoms in patients with Burnside-Butler syndrome, an emerging disorder with a neurodevelopmental behavioral phenotype.
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Topic review
Updated time: 20 Jul 2021
Definition: Clostridioides difficile infection (CDI) has recently become a major healthcare-associated infection worldwide with great impact on healthcare systems as it evolves to a public health problem. The disease may develop due to multiple factors, including but not limited to different drugs usage, especially antibiotics and proton-pump inhibitors (PPIs), which interfere with intestinal flora promoting colonization and altering the immune status in particularly prone patients with inadequate nutritional status. Ischemic colitis (IC) results from diminished blood flow to the bowel wall and is the most frequently encountered type of intestinal ischemia. The ischemic injury can result in variable degree of colonic wall damage, ranging from superficial injury to full-thickness necrosis and perforation. IC mostly affects old female patients, and the clinical picture involves abdominal pain, diarrhea and hematochezia.
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Topic review
Updated time: 22 Jun 2021
Definition: Chronic lymphocytic leukemia (CLL) is the most common form of adult leukemia in the USA and in Europe, with an incidence of approximately 4.2 cases per 100,000 people per year.
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