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Medical Issues, Pharmacology and Nutrient Interaction
Published in Elizabeth Broad, Sports Nutrition for Paralympic Athletes, 2019
Yetsa Tuakli-Wosornu, Nida Naushad, Amos Laar, Christine Townsend, Emerald Lin
Athletes with an amputation have experienced partial or total absence/loss of bones or joints in the upper or lower extremities as the result of congenital or acquired medical condition(s) (Grobler and Derman 2018). Congenital amputations are birth anomalies, while acquired amputations may result from trauma (e.g., a motor vehicle accident) or lifestyle-related disease (e.g., diabetes mellitus, dysvascular disease). The minimum eligibility criteria for participation in a classified Paralympic sport include amputation at least through the wrist for upper-extremity amputees and at least through the ankle for lower-extremity amputees. Limb loss and/or prosthetic use place amputee athletes at increased risk of unique illnesses and injuries described below (Chapter 8; Grobler and Derman 2018).
Posture and orthopedic impairments
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
The absence of a limb may be either congenital or acquired. In congenital amputations, a limb or a portion of a limb is not present at birth or is malformed. Congenital amputations may include absence of an entire limb, absence of all or a portion of the distal half of a limb, or absence of the proximal portion of a limb, with hands or feet remaining attached by that portion of the bone.
Impairment of amputations
Published in Ramar Sabapathi Vinayagam, Integrated Evaluation of Disability, 2019
The stiffness of the proximal joint and phantom pain/sensation also derive additional impairment. A person with vascular amputation expends more energy for ambulation than in traumatic amputation with a consequent reduction in the endurance of walking. A person with congenital amputation adapts very well for most of the activities, whereas there is a limitation of activities in person with vascular or traumatic amputation. The “Activity Participation Skill Assessment Scale” evaluates limitation of activity to assign an appropriate weight for computing the additional percentage of disability.
A Critique of the Use of the Clinical Frailty Scale in Triage
Published in The American Journal of Bioethics, 2021
At the outset, Wilkinson argues the “frailty is typically progressive.” But this is not necessarily so for members of the disabled community (Fried et al. 2004). While the author acknowledges that that those with stable disabilities (e.g., spinal cord injury, cerebral palsy, amputation) are the most obvious counter to his proposition, he fails to properly address the unfair impact that CFS has on disabled persons. The CFS does not accurately capture the reality of disabled patients. For example, an amputee (who has a history of traumatic or congenital amputation) with diabetes is not the same as a diabetic who has had an amputation as a result of worsening or poorly controlled disease. Both individuals would require the same amount of “care” prior to being considered for intensive care resources and thus score similarly on the frailty score. But their health status would be quite different at the moment of triage.
Phantom Penis: Extrapolating Neuroscience and Employing Imagination for Trans Male Sexual Embodiment
Published in Studies in Gender and Sexuality, 2020
Research on two additional groups who experience phantom limbs—people born without limbs (congenital aplasia) and stroke patients with paralysis (e.g., hemiplegia)—may lend insight to trans phantom penises. Because trans men were assigned female at birth (AFAB) and are understood to be born without penises, it might be doubted that their phantom penis sensation is the same as that of cis men, who experienced having a penis throughout life until it was removed, or that it is even genuine. How can a phantom penis exist when the subject has not previously experienced a corporeal penis, when the brain has never received afferent proprioceptive messaging from a preexisting penis? To some extent, this doubt is logically countered if a person born without a limb can nevertheless experience such limb as a phantom. Research into the possibility of phantoms in people with congenital aplasia has drawn conflicting conclusions. As Crawford (2014) puts it, “Whether or not phantoms do or can appear in cases of congenital absence is one of the longest running and most acrimonious debates within the phantom literature over the twentieth century and into the twenty-first. Phantom limb in cases of congenital amputation reemerges throughout the history of phantom etiology as one of the most persuasive ways of either buttressing claims or undermining them” (pp. 115–116) (see also Weinstein and Sersen, 1961; Flor et al., 1998). The tendency to accept the possibility of phantoms resulting from congenital aplasia supports a prenatal hardwiring similar to that asserted by Ramachandran and McGeoch (as already described) in trans men.
Current opinion in the molecular genetics of Adams-Oliver syndrome
Published in Expert Opinion on Orphan Drugs, 2019
First described by Forrest H. Adams and Clarence P. Oliver in 1945 as ‘arrested development’ of the extremities and skull, Adams–Oliver syndrome (AOS) is distinct from congenital amputations due to its Mendelian inheritance pattern and association with a characteristic focal absence of epidermis on the scalp vertex [1]. The family in this original case report epitomizes an important feature of the condition, namely variable expression of the phenotype within families. Terminal transverse limb defects (TTLD) is typically asymmetrical and can range in severity from mild digit shortening to complete absence of the hands or feet. Brachydactyly, syndactyly, and hemimelia have also been documented [1,2]. Similarly, aplasia cutis congenita (ACC) varies in diameter from <1 to >10 cm and can occur with or without an underlying skull defect. Both TTLD and ACC may manifest as isolated defects and a complete absence of clinical features in obligate gene carriers supports reduced penetrance of the disease allele, representing a diagnostic challenge. Given such variability in phenotypic expression, the following criteria are recommended as compatible with a diagnosis of AOS: (a) clinical findings of a combination of scalp ACC and TTLD; (b) ACC and/or TTLD and an affected first-degree relative; (c) ACC and/or TTLD in conjunction with identified mutation in a recognized AOS-related gene (Table 1) [2].