Data and Picture Interpretation Stations: Cases 1–45
Peter Kullar, Joseph Manjaly, Livy Kenyon, Joseph Manjaly, Peter Kullar, Joseph Manjaly, Peter Kullar in ENT OSCEs, 2023
Otosclerosis is the commonest cause of progressive hearing loss in younger adults in the UK. There is a genetic predisposition although not all those with the disease have an affected family member or offspring. The diagnosis is made clinically: The diagnosis is made clinically, typicality an adult presenting with progressive conductive or mixed hearing loss, combined with normal otoscopy. A CT scan may help to rule out alternative causes of conductive hearing loss. Tuning fork tests also add clarity to the assessment and compliment audiometry, especially in bilateral cases where audiometric masking can prove challenging. Treatment options consist of a conventional hearing aid, stapes surgery or a bone conduction device/implant if the first two options are unacceptable. In very advanced cases, cochlear implantation may be necessary. Stapes surgery is the only option for restoring natural acoustic hearing levels. This involves fitting prosthesis between the incus and a fenestration in the stapes footplate. This carries a 0.5%–1% risk of profound sensorineural hearing loss and concurrent infection is a contraindication to surgery. Caution may also be taken in the scenario of an only-hearing ear.
Intervertebral Disc
Manoj Ramachandran, Tom Nunn in Basic Orthopaedic Sciences, 2018
The role of genetic predisposition is being increasingly recognized as a risk factor. Patients who are diagnosed with herniated discs before the age of 21 years are four to five times more likely to have a significant family history of disc herniation and similar magnetic resonance imaging (MRI) disc degeneration appearances have been noted in monozygotic twins. Genetic variations exist in the degree of synthesis and breakdown of structural components of the disc. Collagen IX encoding genes (COL9A2, COL9A3), genes encoding type I collagen (COL1A1-Sp1 binding site), Sox 9 (regulates the genes for aggrecan), vitamin D receptor gene and matrix metalloproteinase (MMP)-3 gene are some of those being studied for possible association with disc degeneration.
Mental Health in Lifestyle Medicine
Gia Merlo, Kathy Berra in Lifestyle Nursing, 2023
One reason why lifestyle medicine approaches are especially important for people with mental health conditions, and especially serious mental illnesses, is that these people consistently have higher morbidity and mortality than the general population, mostly due to cardiovascular disease, metabolic disease, diabetes, and respiratory disorders. Although genetic predisposition does contribute to the risk for certain physical health problems, modifiable lifestyle and environmental factors such as cigarette smoking, obesity, poor diet, and physical inactivity also play a prominent role (Li et al., 2020). It is important for nurses and healthcare professionals to recognize that the majority of premature and excess deaths in people with psychiatric illnesses are often not caused by the psychiatric illnesses themselves but are due to chronic, preventable, lifestyle-related medical conditions, such as cancer, diabetes, and cardiovascular disease (Malhi, 2012). It holds true that what is good for the body is good for the brain, and since mental illnesses are brain disorders, it stands to reason that lifestyle medicine interventions are an essential component of the overall treatment of mental health conditions.
A Neglected Ethical Issue in Citizen Science and DIY Biology
Published in The American Journal of Bioethics, 2019
Although there is much to debate concerning the adequacy of these measures, it is clear that a context in which there is no institutional collaboration or oversight presents a different set of challenges. It is difficult to see how, for example, an informed consent requirement might be introduced when someone is conducting testing of their own DNA, or whether it makes sense to demand such measures. At the same time, finding that you have a gene linked to predisposition for a certain disease could cause significant distress. In addition, these findings can be extremely difficult to interpret. A genetic predisposition to a disease might not provide a good prediction of how likely someone is to develop that disease. Similarly, a finding that a certain mutation is lacking does not provide a good indication that a person will not develop a disease. Even nongeneticist physicians routinely encounter problems interpreting such results (Vassy, Korf and Green 2015). If a person reacts to her findings by changing her medication, or by falsely believing that she is not at risk for a disease, these practices could cause physical as well as psychological harm.
Soluble RAGEs and cardiovascular risk factors in adult offspring of patients with premature coronary heart disease
Published in Blood Pressure, 2020
Petra Karnosová, Markéta Mateřánková, Jitka Seidlerová, Otto Mayer, Jan Filipovský, Václav Karnos
In conclusion, our present study reports for the first time that the offspring of parents with early onset of CHD had significantly lower sRAGE levels suggesting a possible shift in the oxidative balance between stressors and defence mechanisms that may influence a higher cardiovascular risk in the future. The acquired disadvantage of a genetic predisposition together with unhealthy lifestyle habits leads to a higher probability of cardiovascular risk factors, and therefore to a higher risk of cardiovascular disease manifestation. In practice, the overall objective should be to motivate these predisposed individuals to improve their modifiable CV risk factors related to a healthy diet, avoidance of tobacco and taking regular exercise. The measurement of sRAGE and/or AGEs/sRAGE ratio might be a valuable predictor for identifying and stratification of cardiovascular risk. Further investigation is needed to give a complex understanding of sRAGEs and its role in prevention of cardiovascular diseases.
Acute orbital inflammation with loss of vision: a paradoxical adverse event associated with infliximab therapy for Crohn’s disease
Published in Orbit, 2022
David R. Jordan, John S. Y. Park, Danah Al-Breiki
PAEs are generally uncommon and often reported as isolated case reports or case series.3–5,9–20 The majority appear between 1 month and 1 year of initiation of the anti-TNF-α agent but may occur during the 1st day of treatment or several years later.7 The etiology of these PAEs is not entirely clear.1,3,6,7,43 Biologic actions of TNF-α include activation of several proinflammatory cytokines, synthesis of acute-phase reactants, cellular recruitment, monocyte and macrophage activation, prostaglandin secretion, apoptosis, as well as many other functions.1 Anti-TNF-α agents will alter these various actions and the hypothesis of an imbalance in the cytokine milieu is suggested for the etiology of most PAEs with a shift in the cytokine profile that favors the onset of another inflammatory process which subsequently manifests as a PAE.1,3,4,8,44 There may be a dose related effect as there appeared to be in our patient with an increased dose of infliximab followed by the PAE described.6,7 The patient’s genetic predisposition as well as other comorbidities and environmental factors may also play a role.4
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