A short course of prednisone reduced early relapse rates after the treatment of acute asthma in the emergency room, an effect limited to the period of steroid administration.
AAT replacement therapy has not been proven definitively to be clinically effective in reducing the progression of disease in AAT-deficient patients, but there is a possible benefit to selected patients. A placebo controlled, randomized clinical trial of AAT replacement therapy is required. The authors recommend reserving AAT replacement therapy for AAT-deficient patients with impaired FEV1 of 35% to 50% predicted who have quit smoking and are on optimal medical therapy but continue to show a rapid decline in FEV1, and participation of all AAT-deficient subjects in the Canadian AAT Registry.
A Caucasian girl developed slowly progressive sensory neural deafness and bulbar and spinal muscle weakness typical of the Vialetto-Van Laere syndrome. As the condition progressed the major disabilities became dysphagia, respiratory muscle weakness and postural hypotension. Treatment with gastrostomy feedings, oxygen and fludrocortisone acetate produced worthwhile functional improvement. RESUME: Paralysie bulboprotuberantielle avec surdite: syndrome de Vialetto-Van Laere. Nous decrivons le cas d'une fille de race caucasienne qui a deVeloppe une surdite neurale lentement progressive et une faiblesse musculaire bulbaire et spinale typique du syndrome de Vialetto-Van Laere. Avec la progression de la maladie, la dysphagie, la faiblesse des muscles respiratoires et l'hypotension posturale ont ete les signes les plus invalidants. L'alimentation par gastrostomie, I'administration d'oxygene et d'acetate de fludrocortisone ont entraine des ameliorations fonctionnelles significatives.Can. J. Neurol. Sci. 1991; 18:349-351 Chronic, progressive bulbo-pontine paralysis associated with sensory neural deafness is a rare disorder also called the Vialetto-Van Laere syndrome. The syndrome is considered to be hereditary and has been reported in 25 patients. [1][2][3][4][5][6][7][8][9][10][11][12][13][14] Most of the reported cases have come from Europe and North Africa (especially Mediterranean countries such as Portugal, Spain and Tunisia) although a case occurred in a black woman in Brazil. 13 A related syndrome has been described in India and was named the Madras form of anterior horn cell disease. 15 ' 16 In this communication we report the clinical and electrophysiological findings of a Canadian patient with VialettoVan Laere syndrome.
CASE HISTORYThis Caucasian girl had always been thin. At the age of 12 when riding horses she was aware of weakness of dorsiflexion of the right foot. At the age of 19 she began to have progressive bilateral hearing loss, her face felt "stiff, her voice became nasal and she began choking on liquids. She was admitted to a neurosurgical service and found to have bilateral sensorineural deafness, and weakness of the face and bulbar muscles. Brainstem glioma and multiple sclerosis were considered. MRI scan and 4 vessel angiography were negative. A neurological consultation was requested. Some weakness of the small hand muscles was noted and the diagnosis of Vialetto-Van Laere syndrome was raised. By the age of 21 she had developed drooping of her eyelids and had to tilt her head back in order to see when driving. She now had more obvious weakness of the facial muscles and small muscles of the hand. At age 22 she developed shortness of breath on exertion, postural hypotension, vertigo with sudden head movements and began to spend most of her time in a horizontal posture. There was no family history of neurological disorders and her parents were not related.On examination at the age of 23 she had diffuse loss of muscle bulk (weight 37.8 kg, height 168 cm). The blood pressure supine was 80...
SUMMARYWe analysed the T cell receptor (TCR) V°repertoire in BAL and peripheral blood (PBL) of three mild stable atopic asthmatics and two non-asthmatic controls. We used the polymerase chain reaction (PCR) to establish the expression of the four V°families, and to detect oligo or monoclonal expansion of°± T cells, we resolved the PCR products on denaturing and non-denaturing gels to find the extent of junctional diversity arising from differences in the lengths of the V(D)J junctions. We also subcloned and sequenced the PCR products to characterize fully the sequence diversity. BAL T lymphocytes from two asthmatic patients (treated with inhaled steroids) expressed only V°II and, in one of them, V°IIJ°u sage was restricted to J°P and J°P1 gene segments, contrasting with the V°J°repertoire found in his respective PBL. Analyses in denaturing and non-denaturing gels showed that the BAL V°IIJ°P and V°IIJ°P1 PCR products resolved into few bands, suggesting deletions at the junctions due to oligoclonal expansion. BAL T lymphocytes from the third asthmatic (not receiving inhaled steroids) expressed V°I, II and III, and the sequences of the in-frame TCR transcripts from this asthmatic and one healthy volunteer who expressed a similar BAL V°TCR repertoire showed clonal expansion of T cells expressing all three V°families. Our analyses showed that much of the°± T cell population found in BAL fluid of humans derives from clonally expanded T cells.
Primary or nonobstructive, endogenous lipoid pneumonia is a rare clinical entity usually associated with an underlying systemic disease. The present report describes a case involving a 21-year-old man with systemic-onset juvenile rheumatoid arthritis who developed primary endogenous lipoid pneumonia. Multiple treatment regimens were attempted; however, definitive management was only achieved through double-lung transplantation.
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