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Muscular dystrophy and arthritis
Published in Michael Horvat, Ronald V. Croce, Caterina Pesce, Ashley Fallaize, Developmental and Adapted Physical Education, 2019
Michael Horvat, Ronald V. Croce, Caterina Pesce, Ashley Fallaize
Congenital MD is a group of autosomal recessive dystrophies that affect males and females and are present at birth or before 2 years of age (NINDS, 2013). Muscle weakness is evident as the child has difficulty achieving typical motor development landmarks such as sitting, standing, and ambulation. Muscle degeneration and weakness will vary with the type of disorder and may be mild to severe. The three groups of congenital MD are merosin-negative: protein merosin in connective tissue surrounding muscle is missing;merosin-positive: merosin is present but other proteins are missing; andneuronal-migration disorders: migration of nerve cells to proper location is disrupted in fetal development.
Dyspepsia
Published in Andrew Stevens, James Raftery, Jonathan Mant, Sue Simpson, Health Care Needs Assessment, 2018
Brendan C. Delaney, Paul Moayyedi
A qualitative study of reasons for consultation with dyspepsia was conducted in Birmingham. Consulters and non-consulters with dyspepsia were identified similarly to Jones and Lydeard, but were interviewed in depth and transcribed tapes were subjected to a thematic analysis. Many of the subjects were fatalistic with respect to medical interventions and their ability to significantly alter the prognosis of illness, and the belief in dietary or mechanistic aetiology may reflect patients’ expectations of increasing age. Viewed in terms of theories of illness causation, the patients interviewed displayed a predominantly ‘personalistic’ view. The principal explanations for symptoms lay in the areas of degeneration (age), imbalance (of foods, etc.) and mechanical interpretations of bodily function.
Ear Trauma
Published in John C Watkinson, Raymond W Clarke, Christopher P Aldren, Doris-Eva Bamiou, Raymond W Clarke, Richard M Irving, Haytham Kubba, Shakeel R Saeed, Paediatrics, The Ear, Skull Base, 2018
An excellent prognosis for recovery exists in cases of partial or delayed facial nerve palsy. Elecrophysiological testing is only necessary in cases of immediate complete palsy or in those cases of complete paralysis, with an uncertain history, that were thought to have been of delayed onset but have failed to improve. The timing of electrophysiological investigations remains controversial (see Chapter 112, The facial nerve and its non-neoplastic disorders). Most protocols are derived from studies performed on patients with idiopathic, Bell’s palsy. Electroneuronography performed at about 10 days post injury is advocated but in patients with severe trauma this is usually not practical.193 If it shows no response, electromyography is indicated. There is an established standard whereby good recovery of facial function is expected if the decline in the compound action potential on electroneuronography does not reach 90%. Although this seems to have evolved into a treatment threshold, 67% of patients who reach this level of degeneration also have excellent outcomes. A comparative study between idiopathic and traumatic facial palsies only demonstrated the importance of the 90% threshold in the idiopathic group.194
Hand kinematics in osteoarthritis patients while performing functional activities
Published in Disability and Rehabilitation, 2023
Verónica Gracia-Ibáñez, Maria-Jesus Agost, Vicente Bayarri-Porcar, Pablo Granell, Margarita Vergara, Joaquin L. Sancho-Bru
Deeper insight into the implications of joint mobility limitations on the performance of daily living activities may be achieved by analyzing data per task. Supplementary Appendix B provides table B.1, with statistics of the functional angles during SHFT per task, that is, mean posture, FROM and 5th and 95th percentiles (p5 and p95, respectively) per joint and significant differences are highlighted. Specific strategies used by patients to accomplish each task, arising from AROM limitations, can be observed and tasks involving very extreme postures for HOA patients can also be identified. This information might be used to design and indicate proper assistive devices to reduce the functional requirements in those tasks with higher demands. It could serve as an aid to teach patients to change the way they carry out the activities in order to overcome progressive degeneration.
Impacts of ingested MWCNT-Embedded nanocomposites in Japanese medaka (Oryzias latipes)
Published in Nanotoxicology, 2021
Melissa Chernick, Alan Kennedy, Treye Thomas, Keana C. K. Scott, Christine Ogilvie Hendren, Mark R. Wiesner, David E. Hinton
Transport of materials resulting in systemic effects underscores the need for analysis of intact animal models. The use of a transparent, laboratory aquarium model fish provided a rapid, low-cost system that sustained repeated gavage and provided an opportunity for serial in vivo observations. Importantly, all fish behaved normally, and if it were not for the transparency of the model, effects would not have been detectable prior to sectioning. This allowed for directed sectioning and linkage of whole animal responses to component organs, tissues, cells and organelles. Likewise, degeneration at the tissue and cellular level probably preceded that at the organismal level. It is possible that the degeneration in hepatocellular ultrastructure observed in fish exposed to nanocomposites may have needed additional time to become evident at higher levels of biological organization. If this is the case, then nanocomposites may have a more chronic effect compared to their pristine components.
Investigating the role of BEST1 and PRPH2 variants in the molecular aetiology of adult-onset vitelliform macular dystrophies
Published in Ophthalmic Genetics, 2020
Cemal Çavdarli, Büşranur Çavdarlı, Mehmet Numan Alp
The etiological role of genetics and the pathogenic mechanism of the vitelliform lesions in AVMD has become a subject of interest and research over recent years. Since the first description of the disease, various terms have been used to define the similar pathology of AVMD, such as adult macular vitelliform degeneration, adult vitelliform macular degeneration, adult fovea-macular vitelliform dystrophy, and adult vitelliform macular dystrophy (24-27). Unfortunately, this variability in the terminology is a reflection of the lack of a strict consensus with respect to the pathogenesis and diagnostic criteria of the disease. In many cases, a genetic basis could not be detected, supporting the terminology of degeneration. The mainstay of the degeneration supporters in the definition of AVMD is that a defined genetic reason could not be detected in most of the examined cases. However, there may be additional disease-related genes that have not yet been discovered, and in some of the case series, the phenotype of AVMD with similar characteristics has been shown in first-degree relatives and identical twins (18,28).