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Genetic and genomic investigations
Published in Angus Clarke, Alex Murray, Julian Sampson, Harper's Practical Genetic Counselling, 2019
Before it is concluded, though, that diagnostic genetic testing can be handled just as any other medical test, several important points need to be considered. First (but often omitted) is the need to inform the patient that a genetic disorder is under consideration, and that an abnormal result may have a major impact on the wider family. This is especially relevant for those disorders with a small genetic subset (e.g. motor neurone disease, the prion dementias), where the individual and family concerned may have no appreciation that the disorder could be inherited. Second, it is essential that any symptoms are related to the disorder being tested for; this is especially so if a family history has been recognised. Thus, to take the example of Huntington’s disease given in Chapter 15, genetic testing for an individual whose complaint is headache (unrelated to the disorder) would really be presymptomatic (predictive), not diagnostic, and should be handled accordingly.
Helping the anxious person
Published in Claud Regnard, Helping the Patient with Advanced Disease, 2018
Claud Regnard, Margaret Kindlen, Tessa Nichol
John is a 46-year-old man, married with two children. He initially complained of increasing weakness in his legs. Always an anxious man, at first this was put down to stress. When the weakness worsened, however, investigations and examination by the neurologist suggested motor neurone disease, and subsequent progression of the signs and symptoms has confirmed the diagnosis. He wanted to know the diagnosis and was told. Today he comes to see you and is fidgety and unsettled and seems anxious.
End-of-Life Care and Managing Spasticity
Published in Valerie L. Stevenson, Louise Jarrett, Spasticity Management, 2016
Every patient, whatever their diagnosis, will have to face the end of their life at some time. Those with progressive disease, including neurological conditions, may face this prospect earlier and variably. For instance, a person with amyotrophic lateral sclerosis/motor neuron disease (ALS/MND) has a mean life expectancy of 2–3 years, although 10% are alive 10 years after diagnosis,1 whereas life expectancy in people with multiple sclerosis (MS), although reduced, is still long, with a median survival time of 40 years from diagnosis.2 However, the management of any person as end of life approaches should aim to improve quality of life and allow them to be as active as possible. Effective management of spasticity needs to continue during this time, remembering that this period may be many months or even years for some people (see Appendix 16).
TAR DNA-binding protein of 43 kDa (TDP-43) and amyotrophic lateral sclerosis (ALS): a promising therapeutic target
Published in Expert Opinion on Therapeutic Targets, 2022
Yara Al Ojaimi, Audrey Dangoumau, Hugo Alarcan, Rudolf Hergesheimer, Patrick Vourc’h, Philippe Corcia, Débora Lanznaster, Hélène Blasco
Amyotrophic Lateral Sclerosis (ALS), also known as Lou Gehrig’s disease is a fast-progressing paralytic neurodegenerative disease that leads to the irreversible degeneration of the upper and lower motor neurons. It is the most common motor neuron disease. 90% of ALS cases are sporadic (sALS), while only 10% are familial cases (fALS). Various disease-causing mutations have been identified with the most common pathogenic variants occurring in the C9ORF72, SOD1, TARDBP and FUS genes. The pathogenesis of ALS is complex and still poorly understood. An interplay between genetics and environmental factors is likely to contribute to the disease. Several pathological mechanisms have been identified so far, including glutamate excitotoxicity, oxidative stress, mitochondrial dysfunction, neuroinflammation, alterations of mRNA processing, and the accumulation of protein aggregates such as Transactive response DNA binding Protein (TDP-43). TDP-43 is an evolutionary conserved protein that is involved in transcriptional and post-transcriptional regulation. Under normal physiological conditions, TDP-43 is mainly localized in the nucleus. However, toxic cytoplasmic aggregates of TDP-43 have been found in several neuropathologies, particularly in ALS where 97% of patients displayed such aggregates in neurons and glial cells, making it a hallmark of the disease [1,2].
Clinical features and diagnostic tools in idiopathic inflammatory myopathies
Published in Critical Reviews in Clinical Laboratory Sciences, 2022
Konstantinos I. Tsamis, Constantinos Boutsoras, Evripidis Kaltsonoudis, Eleftherios Pelechas, Ilias P. Nikas, Yannis V. Simos, Paraskevi V. Voulgari, Ioannis Sarmas
In early stages of the disease, due to findings of atrophy and weakness and before the tendon reflexes are diminished, the clinician may consider motor neuron disease as a possible diagnosis. EMG, although needed to orientate the investigation toward muscle pathology, shows nonspecific results. As most cases are diagnosed approximately 5 years from onset, EMG results are often consistent with a chronic myopathy presenting both neuropathic and myopathic findings. Thus, needle EMG examination may be difficult to interpret as both small-short and large-long motor unit action potentials (MUAPs) can be found even in the same muscle. In rare cases, the large-long MUAP may be even more prominent. The recruitment pattern can also be doubtful. Evidence of denervation such as fibrillation potentials and positive sharp waves are present. These cases are even more complicated, as in one-third to one-half of the patients, the nerve conduction studies highlight a mild sensory or sensorimotor neuropathy that is often associated with comorbidities of older age. For other patients with IBM, the EMG findings are typical of IIMs, including small-short and polyphasic MUAPs that often are associated with proximal weakness. It is noteworthy that the disease has an asymmetric pattern and that not all muscles are affected equally [112].
The experiences of well-being of family caregivers in palliative care: A qualitative study using thematic analysis
Published in Progress in Palliative Care, 2021
Tan Seng Beng, Yeoh Kee Ying, Cheah Ai Xin, Lim Ee Jane, Dong Chooi Lin, Lim Poh Khuen, David Paul Capelle, Sheriza Izwa Zainuddin, Loh Ee Chin, Lam Chee Loong
This study has a several limitations. Our inclusion criterion of well-being was subjective. Convenience sampling was used. Recruitment was done in the hospital. Community palliative care was not included. It was a single center study. The majority of family caregivers were children. Studies have shown that different types of family caregivers have different levels of psychological well-being.25,26 It remains unknown whether increasing the number of other family caregivers will add further insight into caregivers’ well-being. Most were taking care of cancer patients. Two were caring for patients with motor neuron disease. None was caring for patients with dementia or other types of organ failure. Since cancer often follows a different trajectory compared to organ failure and dementia, caregivers’ well-being are likely to vary according to the trajectory. All these factors limit the generalization of the results. However, the goal of qualitative study is not to generalize but to provide a rich, contextualized understanding of some aspect of human experiences.27 Transcripts and findings were not returned to participants for comment and feedback.