Twenty-seven morbidly obese patients (13 men and 14 women) with body mass index greater than or equal to 40 kg m-2 were examined. The mean age of the subjects was 36.9 +/- 8.2 years (range 23-51 years), and the mean BMI was 50.2 +/- 6.2 kg m-2 (range 40.0-62.9 kg m-2). A whole-night sleep recording was made for all patients with signs or symptoms indicative of possible obstructive sleep apnoea syndrome (OSAS). If the first nocturnal sleep recording was abnormal, it was controlled after 1 year. Eleven (10 men and one woman) of the 27 patients had an oxygen desaturation index (ODI) of 10 h-1. They were symptomatic with excessive daytime sleepiness or other daytime symptoms of OSAS. The occurrence of OSAS in men and women was 76.9 and 7.1%, respectively. Arterial hypertension was associated with OSAS, but not with smoking or the degree of obesity. Antihypertensive treatment was received by nine of the 27 patients; six of them had OSAS. Thus six of the 11 (54.5%) patients with OSAS and three of the 16 (18.8%) nonapnoeic patients were treated for arterial hypertension (Fisher exact test, P = 0.042). The odds ratio of OSAS for arterial hypertension is 5.2 (95% CI, 0.71-43.6). Vertical-banded gastroplasty was performed in 14 patients, three of whom had OSAS. The selection of patients for gastroplasty was made without taking into account the results of sleep recordings. In the three OSAS patients, a 30-38% reduction in BMI was achieved by surgery. Eight patients with OSAS were treated with an intensified dietary regimen, and the reduction in BMI ranged from -2.6 to 33%. OSAS was either cured or significantly improved in six (55%) patients, with a mean reduction in BMI of 27%, while in patients with persistent OSAS the mean reduction in BMI was only 7%.
Hereditary gelsolin amyloidosis (AGel amyloidosis) is a systemic disorder reported worldwide in kindreds with a G654A or G654T gelsolin gene mutation. The clinically characteristic peripheral nerve involvement has been poorly characterized morphologically, and its pathogenesis remains unknown. We studied peripheral nerve and skeletal muscle biopsy or autopsy specimens of 35 patients with a G654A gelsolin gene mutation. Histological, immunohistochemical, and electron microscopic studies showed consistent deposition of gelsolin amyloid (AGel), particularly in the vascular walls and perineurial sheaths. Nerve roots were more severely affected than distal nerves. The amyloid deposits also displayed variable immunoreactivity for apolipoprotein E, amyloid P component, cystatin C, and alpha-smooth muscle actin. Sural nerve morphometry showed preferential age-related large myelinated nerve fiber loss and reduction of myelin sheath cross-sectional area. There was evidence of denervation atrophy and fiber type grouping in skeletal muscle. Our study shows that marked proximal nerve involvement with AGel angiopathy is an essential feature of AGel amyloidosis. The preferential large fiber loss, not generally seen in amyloid neuropathy, may be caused by ischemia due to AGel angiopathy. Deficient actin modulation by variant gelsolin in neurons and Schwann cells, however, may alter axonal transport and myelination and contribute to AGel polyneuropathy.
We report, for the first time, electrophysiological findings in the Finnish type of familial amyloidosis (FAF), a gelsolin-related form of systemic amyloidosis. Electromyography, nerve conduction studies, and blink reflex examinations were performed in 30 patients (age range 27-74 years). Cranial nerve involvement was detected in all, and peripheral nerve involvement in the majority of patients. Carpal tunnel syndrome was a characteristic feature of FAF, previously unrecognized. Myokymia-type short spontaneous bursts in frontal muscles were found in 3 younger patients. In addition to signs of axonal degeneration we found slow nerve conduction, prolonged distal motor latencies, and conduction blocks suggestive of demyelination. Most nerve conduction velocities correlated remarkably with age. We conclude that FAF is characterized not only by distinct clinical and molecular biological features but also by electrophysiological findings, which enable differentiation from other hereditary amyloidoses.
The pathogenesis of the acute porphyric attack is not known. One hypothesis is that porphyrin precursors, especially 5-aminolaevulinic acid (ALA), are toxic for neuronal tissue. This was tested by infusing ALA in a male volunteer after a loading dose at a rate of 50-80 mg h-1 for 92.5 h. During the experiment plasma ALA concentration was 9-11 mumol 1-l and porphobilinogen concentration 3-6 mumol 1-l which are the levels seen during acute attacks. Urinary excretion of these porphyrin precursors was also markedly increased. ALA infusion caused no subjective symptoms and no change in pulse rate, blood pressure, or autonomic nerve function or conduction velocity of peripheral nerves. Photosensitivity was not demonstrable. It is concluded that sustained high plasma ALA concentration does not cause porphyria-like symptoms.
Dental technicians often handle methyl methacrylate bare-handed before the polymerization reaction, and the monomer can penetrate the skin during the process. Nerve conduction velocities were determined in 20 dental technicians who had slight neurological complaints and in 18 healthy control persons. The motor and sensory conduction velocities in the forearm sections were normal and similar in both the study and the control group. Dental technicians had significantly slower distal sensory conduction velocities from the digits I, II and III on the right hand and also from the radial aspects of the digits II and III on the left hand than did the controls. Findings are considered to represent mild axonal degeneration on the areas with the closest and most frequent contact with methyl methacrylate.
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