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Developmental Diseases of the Nervous System
Published in Philip B. Gorelick, Fernando D. Testai, Graeme J. Hankey, Joanna M. Wardlaw, Hankey's Clinical Neurology, 2020
James H. Tonsgard, Nikolas Mata-Machado
NF-2 must sometimes be distinguished from schwannomatosis and possibly meningiomatosis. The former is characterized by the presence of multiple schwannomas. There are no other tumor types or vestibular schwannomas in this disease. Recent studies have shown that a substantial percentage of patients with familial schwannomatosis and a small percentage of patients with sporadic schwannomatosis actually have NF-2. Distinguishing these two diseases requires genetic testing of the blood as well as of tumor samples.
The Sleeping Brain
Published in Hanno W. Kirk, Restoring the Brain, 2020
Published reports of the benefits of neurofeedback for persons with epilepsy, insomnia and ADHD appeared in the 1970s.92,93,94 This is not a new therapy. By now the collective literature is robust. Therapeutic protocols of NF are based on accepted principles of neuroanatomy and neurophysiology. Moreover, NF, through its effects on brain self-regulation, holds the promise of uncovering much of the inner workings of brain functioning. The effect size of improvements with NF compares favorably to that of pharmacotherapy, and NF avoids the potential deleterious effects of medications used to treat these conditions. Thus far there are no indications that NF produces any long-term adverse effects when it is in qualified, competent hands. Finally, the evidence indicates that effects of NF are long lasting – a clear advantage over the usual pharmacotherapy. As such, it is incumbent upon clinicians/researchers who treat persons with neuropsychological conditions to consider seriously the information contained in this chapter, and in this volume. This will require a paradigm shift among all health care professionals, but the benefits to our patients are potentially enormous.
Toxic shock syndrome
Published in Biju Vasudevan, Rajesh Verma, Dermatological Emergencies, 2019
Aseem Sharma, Madhulika Mhatre
Necrotizing fasciitis is defined as a deep-seated infection of the hypodermic tissue, progressing to destroy fascia, and sparing muscle tissue (Figures 25.8 through 25.12). The most common causal agent is GAS. A history of superficial, blunt trauma precedes the infection. Early distinction from simple cellulitis is often difficult, distinguished by “out-of-proportion” pain. Late markers comprise tense edema, stark erythema, and bullae impending rupture, which turn bluish over time. NF is associated with a multitude of systemic symptoms and high morbidity, in spite of usage of antibiotics, dialysis, ventilators, IV fluids, and improved surgical techniques. It is postulated that newer strains of GAS are highly virulent, and thereby somewhat resistant to conventional therapy [17].
Physical therapy to address fall risk in an individual with neurofibromatosis
Published in Physiotherapy Theory and Practice, 2022
Robert B. Adams, Justin T. Dudley, Tamara S. Struessel
Neurofibromatosis (NF) is a genetic disorder characterized by the growth of tumors throughout the body due to dysfunction of tumor-suppressor genes (Kresak and Walsh, 2016). Neurofibromatoses are divided into three subtypes: 1) Type 1; 2) Type 2; and 3) Schwannomatosis, with 96% of cases being Type 1 (Kresak and Walsh, 2016). Neurofibromatosis Type 1 affects 1 in every 3500 people (Boyd, Korf, and Theos, 2009) and is not linked to race, ethnicity, or gender (Williams et al., 2009). NF Type 1 can lead to the growth of tumors in multiple tissues, including the central and peripheral nervous systems, skin, muscles, joints, and bones (Williams et al., 2009). The specific tissues affected by NF-related tumors determine how the disease presents and impacts the patient (Kresak and Walsh, 2016; Williams et al., 2009). While physical therapy intervention is not effective at modifying NF-associated tumors, it may be able to address associated impairments and activity limitations.
Clinical manifestations and genetic analysis of a family with neurofibromatosis type 2
Published in Acta Oto-Laryngologica, 2022
Victoria Y. Wang, Te-Yi Liu, Te-Yung Fang, Ya-Hui Chen, Chi-Jung Huang, Pa-Chun Wang
Neurofibromatosis (NF) can be categorized into 3 genetically distinct disease entities: NF1 (peripheral nerve tumor), NF2 (central nerve tumors), and schwannomatosis (SWN; multiple nerve tumors without vestibular schwannoma) [1]. NF2 is an autosomal dominant (AD) disease characterized by bilateral vestibular schwannomas, multiple intracranial or spinal tumors, and eye lesions. According to the United States National Institute of Health criteria, NF2 can be diagnosed through the detection of bilateral vestibular schwannoma or of a first-degree family relative having NF2 and either (1) unilateral vestibular schwannoma or (2) 2 of the following: meningioma, schwannoma, glioma, neurofibroma, or juvenile posterior subcapsular lens opacity. NF2 is usually asymptomatic until the hearing or vestibular symptoms manifest. It comprises 3% of all NF and is rare compared with NF1, with a reported prevalence of 1 in 25,000 to 40,000 [2].
Resilient youth with neurofibromatosis: Less perceived stress and greater life satisfaction after an 8-week virtual mind–body intervention
Published in Journal of Psychosocial Oncology, 2021
Ethan Lester, Ana-Maria Vranceanu
The neurofibromatoses (NF; NF1 and NF2) are a group of rare, incurable genetic disorders characterized by the development of nerve sheath tumors. These histologically benign tumors can occur anywhere in the body and often cause significant morbidity including disfiguring cutaneous tumors (NF1), and/or complete hearing loss, facial weakness, and poor gait (NF2). In rare cases, these tumors can become malignant, causing greater stress and medical complications for the individual with NF. Not surprisingly, adolescents with NF report lower quality of life (QoL), higher stress, and more psychosocial distress compared to the general population.1 These young patients with NF also typically have less access to psychosocial care and resources that are specifically tailored to NF.2 Recently, a mind–body program tailored for the needs of adolescents with NF and delivered virtually has been found to be feasible, accepted, and associated with sustained improvement in QoL (physical, psychological, social, and environmental)2 and resiliency factors (mindfulness, coping, gratitude, and social support).3 Despite improvements in QoL and resiliency, no research has examined where subjective wellness variables, such as life satisfaction and perceived stress, improve following a virtual mind–body program for adolescents with NF. What follows is a report on changes in the secondary outcomes from the original randomized controlled trial (RCT)2 examining stress and satisfaction with life following program participation.