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1/14. Presentation of ALS to the otolaryngologist/head and neck surgeon: getting to the neurologist.

    patients with early symptoms of bulbar amyotrophic lateral sclerosis (ALS) are usually referred to the otolaryngologist without a diagnosis. Careful examination of the speech quality and a physical exam, including the vocal cords, should be undertaken. The emotional state of the patient should be considered, and a diagnosis should not be offered before a neurologic consultation has been obtained. patients with late symptoms of bulbar ALS almost always present with both significant speech and swallowing abnormalities. Evaluation can be difficult because many abnormalities are found on examination. Advanced progression of symptoms is a clear indication for rapid referral to a neurologist if a diagnosis has not already been made. Supportive and symptomatic care should be offered to the patient immediately. The University of washington Neuromuscular Clinic for speech and Swallowing Disorders has seen 600 new neurologic patients since 1986, 211 of whom were ALS patients. The introduction of percutaneous gastrostomy has greatly changed the management of ALS patients, and 75 patients have undergone this procedure (32% because of inadequate swallowing, 68% for declining vital capacity). Medical management to improve symptoms may be indicated before surgery. Surgical options for patients with late salivary presentation are uncommon and include removal of the submaxillary glands, tracheostomy, and laryngeal or salivary diversion procedures. laryngectomy or laryngeal diversion procedures are only very rarely indicated. Although tracheostomy usually interferes with swallowing and worsens aspiration, it may rarely be indicated in patients with late airway presentation for glottic narrowing or artificial respiratory support. Symptomatic management of patients with bulbar ALS is usually best undertaken by a multidisciplinary clinic that can provide a physically and psychologically supportive environment.
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2/14. Existential issues in palliative care: interviews of patients with amyotrophic lateral sclerosis.

    For the individual as well as for those caring for the patients, the diagnosis of amyotrophic lateral sclerosis (ALS) provides a great emotional challenge. Many factors, including existential distress, contribute to the emotional strain of patients with ALS. This study focuses on patients diagnosed with ALS and how they communicate existential issues related to meaning and guilt, relations, diagnosis and information, physical inability, and dying with dignity and respect for the person. The results of the present study indicate that (1) patients experience a number of problems, particularly in connection with physical inability, (2) the need to confide in someone is not particularly strong, (3) central for the value of life is to be respected as a person, (4) existential issues are of great importance to the patients.
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3/14. Responding to requests for physician-assisted suicide: "These are uncharted waters for both of us...".

    Studies of dying patients have shown that about half would like the option of physician-assisted suicide (PAS) to be available for possible future use. Those percentages decrease significantly with each step patients take toward action. Studies show that although about 10% of patients seriously consider PAS, only 1% of dying patients specifically request it, and 1 in 10 of those patients actually receive and take a lethal prescription. However, most patients' desires for PAS diminish as their underlying concerns are identified and addressed directly. To help identify concerns motivating a patient's request for PAS, physicians should talk with patients about their expectations and fears, options for end-of-life care, goals, family concerns and burdens, suffering or physical symptoms, sense of meaning and quality of life, and symptoms of depression. A patient with advanced amyotrophic lateral sclerosis (ALS) who requested PAS illustrates how a hasty response may adversely affect patient care and the health care team. Although physicians should remain mindful of their personal, moral, and legal concerns, these concerns should not override their willingness to explore what motivates a patient to make this request. When this approach is taken, suffering can be optimally alleviated and, in almost all cases, the patient's wishes can be met without PAS.
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4/14. Chromosomal translocation t(18;21)(q23;q22.1) indicates novel susceptibility loci for frontotemporal dementia with ALS.

    A chromosomal translocation t(18;21)(q23;q22) is reported in a patient with frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS). We exclude the physical involvement and silencing of the ALS-linked gene for copper/zinc superoxide dismutase (SOD1) on chromosome 21q22.1. The breakpoints are assigned to sequences flanked by the markers ATA1H06, D18S462, D21S1915, and D21S1898. These critical regions may contain susceptibility loci for FTD associated with ALS.
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5/14. neostigmine: an alternative treatment for constipation.

    constipation is a common complication of amyotrophic lateral sclerosis (ALS), especially as the disease progresses. While ALS patients may experience disturbed gastrointestinal motility due to the nature of the disease and decreased physical activity, the constipation is not usually caused by mechanical obstruction. Acute colonic pseudo-obstruction (ACPO) is a syndrome characterized by massive dilation of the colon without mechanical obstruction. Recent studies have shown neostigmine may be an effective treatment for ACPO. Through a case study, the author discusses the use of neostigmine and its nursing implications on a patient with ALS.
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6/14. Rapid progression of amyotrophic lateral sclerosis presenting during pregnancy: a case report.

    BACKGROUND: amyotrophic lateral sclerosis (ALS) is a progressive neurologic disease that is rare within the obstetric population. Only 5 reports of ALS in pregnancy have appeared in the medical literature since 1977. CASE: A previously healthy 25-year-old pregnant woman with 2 previous births presented with generalized weakness at 22 weeks' gestation. Initial laboratory values were all normal. She was admitted to hospital at 29 weeks' gestation and intubated because of respiratory compromise. Daily biophysical profiles and amniotic fluid indices were normal. Labour was induced at 34.5 weeks' gestation, and delivery was uncomplicated. She died at 9 months postpartum. CONCLUSION: pregnancy complicated by the onset of ALS is a rare event. Complications of this disease mainly affect the respiratory system. death in this case occurred more rapidly than in other previously reported cases.
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7/14. amyotrophic lateral sclerosis in an Italian professional soccer player.

    amyotrophic lateral sclerosis (ALS) is a rare devastating neurodegenerative disease of unknown etiology. Two recent epidemiological studies showed a high risk for ALS among Italian male soccer players. We present the clinical and occupational history of an Italian professional soccer player affected by sporadic ALS. The early onset of ALS (45 years), the bulbar form, the playing position (midfielder) and the duration of the job as professional soccer (17 years) are four characteristics of this patient that are in good agreement with the findings in the previous epidemiological studies. This patient reports the frequent consumption of fructose 1,6 biphosphate, extracts of suprarenal cortex, crotetamide and cropropamide, and dietary supplements (branched chain amino acids and creatine) during his playing career. Some hypotheses have been proposed to explain this high excess of deaths for ALS among soccer players: (a) vigorous physical activity; (b) soccer specific trauma or microtrauma; (c) use of illegal toxic substances or chronic misuse of drugs (most often anti-inflammatory) and dietary supplements; and (d) exposure to pesticides used on playing fields. The overall available clinical and epidemiological evidence supports the possible relation between the specific occupational environment (soccer) and the occurrence of ALS in this patient.
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8/14. Neuromuscular disorders in clinical practice: case studies.

    Neuromuscular disorders represent a large group of highly varied and interesting clinical disorders, many of which have major general medical manifestations. These disorders can be diagnosed largely based on the patient's history and physical examination with a little help from modern technology. Despite the outdated belief that neurologic conditions are diagnosed but rarely treatable, all cases discussed herein represent disorders for which there are extensive options and opportunities for meaningful management. These 16 brief case overviews challenge and refresh diagnostic skills and provide the framework for selected comments regarding management options.
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9/14. An intraoral prosthesis to control drooling in a patient with amyotrophic lateral sclerosis.

    Many alternatives exist for treating chronic drooling. The treatment of a patient with amyotrophic lateral sclerosis who complained of chronic drooling and lack of retention of fluids while drinking is presented. In this case, an alternative type of intraoral prosthesis, not previously reported in the dental literature, was used to treat chronic drooling. A lip plumper prosthesis was fabricated to approximate the partially incompetent lips and create an oral seal. The results of the prosthesis therapy for this patient are encouraging both physically and psychologically.
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10/14. Neuropsychological perspectives in amyotrophic lateral sclerosis.

    Three aspects of neuropsychological functioning in patients with ALS are examined. Contrary to previous research, a new psychometric study of psychological adjustment suggested significant depression-distress in this population and related psychological disturbance differentially to signs of upper versus lower motor neuron involvement and to respiratory failure. An association between ALS and impaired neuropsychological functioning is discussed through an examination of the clinical and pathologic literatures. ALS appears to be a multisystem degenerative disease with a variety of expressions that may frequently include loss of cognitive-behavioral competency with progressive involvement of the prefrontal cortex and, in a few instances, profound dementia. Finally, the article describes an analysis of trends in psychological adjustment and in the perception of physical capability over the course of a pilot clinical trial.
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