11/129. Adverse events during use of intranasal desmopressin acetate for haemophilia A and von Willebrand disease: a case report and review of 40 patients.We report our experience with the incidence of adverse events during the use of Stimate brand intranasal desmopressin acetate (IN DDAVP) for patients with haemophilia A (HA) or von Willebrand disease (vWD) after noting two severe adverse events in one adult patient. All patients with documented vWD (type 1 or 2 A) or haemophilia A (mild, moderate or symptomatic carrier) from the Emory Comprehensive Hemophilia Center who had IN DDAVP challenge testing or were using Stimate for treatment of bleeding were evaluated for adverse events by patient report or nursing observation of clinical signs and symptoms. Forty patients were studied. Sixty-eight per cent (27/40) experienced clinical signs and/or symptoms. The majority of these symptoms were mild, however several patients reported moderate to severe side-effects and one adult patient required medical intervention for symptomatic hyponatraemia. In our experience, two-thirds of patients tested experienced adverse signs and/or symptoms with the use of Stimate; considerably higher than that reported from preliminary results in the literature. Young age did not correlate positively with adverse reactions. Severe adverse events requiring medical intervention were rare, however symptoms such as moderate to severe headache, nausea, vomiting and weakness may necessitate evaluation for hyponatraemia. This is the first report of symptomatic hyponatraemia in an adult patient with recommended dosing of Stimate. Side-effects may be minimized if patients adhere to instructions regarding fluid intake and composition while using IN DDAVP.- - - - - - - - - - ranking = 1keywords = ms (Clic here for more details about this article) |
12/129. Rhythmic cortical and muscle discharges induced by fatigue in corticobasal degeneration.We describe a patient presenting clinical features of corticobasal degeneration (CBD), including reflex myoclonus in the left upper limb. This patient complained of a marked worsening of involuntary movements in the left upper limb after exercise. We analysed the electrophysiological characteristics of myoclonus in the basal state and after a fatiguing exercise in the left upper limb. In the basal condition, single trials recording EEG showed a cortical complex occurring 20 ms after stimulation of the left median nerve. Surface EMG recordings of the left first dorsal interosseous (FDI) revealed an isolated biphasic C1 response 49 ms after stimulation. After exercise, single trials recording EEG following shocks to the left median nerve showed rhythmic complexes with a duration of approximately 80 ms. EEG complexes were made of a series of 3 bursts, with intervals between bursts tending to cluster at approximately 22 ms. These rhythmic complexes were associated with repetitive activity in the left FDI. We conclude that rhythmic cortical and muscle discharges can be induced by fatigue in CBD.- - - - - - - - - - ranking = 0.8keywords = ms (Clic here for more details about this article) |
13/129. Early menopause presenting with mood symptoms in a student aviator.The clinical presentation of menopause can resemble the symptoms of a mood disorder. We describe the case of a 31-yr-old student helicopter pilot who presented to the aviation psychiatry Department with a several-month history of inconsistent training performance, mood lability, tearfulness, anxiety, insomnia, fatigue, and decreased concentration. Symptoms persisted despite stress management training and resolution of family stressors, and further evaluation revealed other symptoms consistent with early menopause. Symptoms responded to estrogen/progesterone therapy, and patient returned to flight training. The clinical presentation, differential diagnosis, treatment, and aeromedical disposition of perimenopause and menopause are discussed.- - - - - - - - - - ranking = 1.6keywords = ms (Clic here for more details about this article) |
14/129. Hypersomnia in Wilson's disease: an unusual symptom in an unusual case.Wilson's disease (WD) shows a wide heterogeneity in symptoms. In this case report we present hypersomnia as a symptom of WD. The male patient's complaints as fatigue, decreased level of concentration, and highly increased demand of sleeping started at his age of 21 years. No abnormality was found at physical examination. A moderate elevation in liver function tests was found, but all the other laboratory findings were within the normal range. The marked hypersomnia was verified by 24-h cassette EEG polisomnographic monitoring. No abnormality was found at physical examination. EEG, brain CT and MRI were normal. Neither toxic nor infectious disease was detectable. The diagnosis of WD was based on decreased coeruloplasmin level, increased baseline and forced urinary excretion of copper, and decreased level of serum copper. Kayser-Fleischer ring was not detectable. D-penicillamine (DPA) was introduced. At 8-10 months after the initiation of the therapy the patient's complaints gradually resolved. The control sleep record 14 months after the initiation of the DPA therapy was normal. Five years later the patient is currently on penicillamine treatment and he is free of any symptom.- - - - - - - - - - ranking = 0.2keywords = ms (Clic here for more details about this article) |
15/129. Fatigue associated with obstructive sleep apnea in a patient with sarcoidosis.Many patients with sarcoidosis suffer from persistent constitutional symptoms such as fatigue and general weakness, even though physiological measures of disease activity returned within normal limits. The following case report demonstrates a sarcoidosis patient with recurring fatigue caused by an obstructive sleep apnea syndrome developed during the course of the disease.- - - - - - - - - - ranking = 0.2keywords = ms (Clic here for more details about this article) |
16/129. Cloning of dimethylglycine dehydrogenase and a new human inborn error of metabolism, dimethylglycine dehydrogenase deficiency.dimethylglycine dehydrogenase (DMGDH) (E.C. number 1.5.99.2) is a mitochondrial matrix enzyme involved in the metabolism of choline, converting dimethylglycine to sarcosine. Sarcosine is then transformed to glycine by sarcosine dehydrogenase (E.C. number 1.5.99.1). Both enzymes use flavin adenine dinucleotide and folate in their reaction mechanisms. We have identified a 38-year-old man who has a lifelong condition of fishlike body odor and chronic muscle fatigue, accompanied by elevated levels of the muscle form of creatine kinase in serum. Biochemical analysis of the patient's serum and urine, using (1)H-nuclear magnetic resonance NMR spectroscopy, revealed that his levels of dimethylglycine were much higher than control values. The cDNA and the genomic dna for human DMGDH (hDMGDH) were then cloned, and a homozygous A-->G substitution (326 A-->G) was identified in both the cDNA and genomic dna of the patient. This mutation changes a His to an Arg (H109R). Expression analysis of the mutant cDNA indicates that this mutation inactivates the enzyme. We therefore confirm that the patient described here represents the first reported case of a new inborn error of metabolism, DMGDH deficiency.- - - - - - - - - - ranking = 0.2keywords = ms (Clic here for more details about this article) |
17/129. Wegener's granulomatosis triggered by infection?Wegener's granulomatosis is a systemic disease of unknown origin, although recent studies suggest that auto-immune mechanisms and infection play a role in the pathogenesis of this disease. Wegener is characterized by a necrotizing vasculitis involving the lungs (pulmonary infiltrates), the upper airways and the kidneys (rapidly progressive glomerulonephritis). We present a case of a male patient admitted because of progressive deterioration of the general condition with weight loss, a unilateral neck mass, unilateral purulent rhinorrea and fever. CT-scan evaluation demonstrated a unilateral expanding mass in the sing-nasal cavity, obliterating the ethmoid complex. MRI revealed signs of intracranial inflammatory reaction and onset of absedation. A malignancy was suspected but a diagnosis of Wegener's granulomatosis was established based on histologic criteria (nasal biopsy) and a positive titer for anti-cytoplasmic antibodies (cANCA). During follow-up, nasal carriage of Staphyloccocus Aureus could be documented. An overview of Wegener's granulomatosis will be provided with emphasis on the potential role of acute infections as a trigger for Wegener's granulomatosis and the head and neck manifestations.- - - - - - - - - - ranking = 0.2keywords = ms (Clic here for more details about this article) |
18/129. Exercise in 94 degrees F water for a patient with multiple sclerosis.BACKGROUND AND PURPOSE: The purpose of this case report is to describe the examination, intervention, and outcome of a patient with multiple sclerosis (MS) who participated in a comprehensive rehabilitation program that included aquatic therapy with a pool temperature of 94 degrees F. There are few descriptions of aquatic exercise programs on muscle force, exercise tolerance, and functional outcomes in individuals with MS, and most authors recommend a water temperature of less than 85 degrees F to prevent an exacerbation of symptoms. DESCRIPTION: The patient was a 33-year-old woman. Before, during, and after the aquatic program, she was monitored for body temperature, heart rate, blood pressure, and perceived exertion. She was also assessed for muscle force and functional abilities. OUTCOMES: The patient did not experience heat sensitivity or fatigue throughout the program, and her manual muscle test grades and mobility improved. DISCUSSION: This patient's participation in aquatic therapy, in conjunction with land-based interventions, may have been associated with the improvement in functional abilities.- - - - - - - - - - ranking = 835.64568735875keywords = multiple sclerosis, sclerosis, ms (Clic here for more details about this article) |
19/129. central nervous system disease in patients with macrophagic myofasciitis.Macrophagic myofasciitis (MMF), a condition newly recognized in france, is manifested by diffuse myalgias and characterized by highly specific myopathological alterations which have recently been shown to represent an unusually persistent local reaction to intramuscular injections of aluminium-containing vaccines. Among 92 MMF patients recognized so far, eight of them, which included the seven patients reported here, had a symptomatic demyelinating CNS disorder. CNS manifestations included hemisensory or sensorimotor symptoms (four out of seven), bilateral pyramidal signs (six out of seven), cerebellar signs (four out of seven), visual loss (two out of seven), cognitive and behavioural disorders (one out of seven) and bladder dysfunction (one out of seven). brain T(2)-weighted MRI showed single (two out of seven) or multiple (four out of seven) supratentorial white matter hyperintense signals and corpus callosum atrophy (one out of seven). evoked potentials were abnormal in four out of six patients and CSF in four out of seven. According to Poser's criteria for multiple sclerosis, the diagnosis was clinically definite (five out of seven) or clinically probable multiple sclerosis (two out of seven). Six out of seven patients had diffuse myalgias. deltoid muscle biopsy showed stereotypical accumulations of PAS (periodic acid-Schiff)-positive macrophages, sparse CD8 T cells and minimal myofibre damage. Aluminium-containing vaccines had been administered 3-78 months (median = 33 months) before muscle biopsy (hepatitis b virus: four out of seven, tetanus toxoid: one out of seven, both hepatitis b virus and tetanus toxoid: two out of seven). The association between MMF and multiple sclerosis-like disorders may give new insights into the controversial issues surrounding vaccinations and demyelinating CNS disorders. deltoid muscle biopsy searching for myopathological alterations of MMF should be performed in multiple sclerosis patients with diffuse myalgias.- - - - - - - - - - ranking = 668.396549887keywords = multiple sclerosis, sclerosis, ms (Clic here for more details about this article) |
20/129. Fatigue and hyponatremia in a 75-year-old woman: unusual presentation of hypophysitis.A 75-year-old woman presented with general fatigue progressing to somnolence. Laboratory tests showed marked hyponatremia. TSH in the normal range, but low levels of free T3 and free T4. Evaluation of pituitary hormones and magnetic resonance imaging of the pituitary unmasked findings characteristic for hypophysitis with secondary adrenal insufficiency and secondary hypothyroidism. Hormonal substitution with hydrocortisone and levothyroxine resulted in rapid improvement of all symptoms and signs. Without additional treatment shrinkage of the pituitary gland could be documented. Our report extends the known clinical and pathological spectrum of hypophysitis and illustrates the need to include this uncommon entity in the differential diagnosis of hyponatremia even in elderly patients.- - - - - - - - - - ranking = 0.2keywords = ms (Clic here for more details about this article) |
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