Diss. (sammanfattning) Stockholm : Karol. inst., 2004. / Härtill 5 uppsatser.

京都大学 / 新制・課程博士 / 博士(医学) / 甲第25178号 / 医博第5064号 / 京都大学大学院医学研究科医学専攻 / (主査)教授 羽賀 博典, 教授 伊達 洋至, 教授 森田 智視 / 学位規則第4条第1項該当 / Doctor of Medical Science / Kyoto University / DFAM

No description available.

Familial amyloidosis with polyneuropathy (FAP) was first reported from Portugal in 1952, but since then this syndrome has been recognized in many countries including Sweden. In this investigation cardiac and pulmonary functions in the Swedish variety of FAP were studied. A retrospective survey of the ECG findings in 71 patients showed a high prevalence of atrioventricular (38%) and intraventricular (41%) conduction defects, and also a high prevalence of atrial fibrillation (14%). In several patients a progression in the conduction defects to advanced disturbances could be observed and 10 out of 71 patients (14%) in the present series required pacemaker treatment. A histopathological study of the atrioventricular part of the conduction system showed marked amyloid infiltration in each case, which may explain the high prevalence of conduction defects. In an échocardiographie study which emcompassed 22 consecutive patients, all but those two patients with the shortest duration of symptomatic disease showed abnormal features. The most frequent and characteristic findings were hypertrophy of the interventricular septum (86%) and a hyperrefractile appearance of the iryocardium (68%). This unusual association of échocardiographie features is considered almost diagnostic of cardiac amyloidosis. A hemodynamic study showed an essentially normal systolic heart function, but in several patients there were signs of impaired diastolic function with increased myocardial rigidity. Several patients showed signs of obstruction of the ventricular outflow tracts. This finding, as well as the échocardiographie features, is in accordance with altered anatomical and functional properties of the interventricular septum. The major pulmonary function abnormalities were decreased maximum respiratory pressure which indicate that the neuropathy in FAP involves the respiratory musculature, and impaired diffusing capacity consistent with an alveo-capillary block caused by amyloid deposits. / digitalisering@umu

Primary biliary cirrhosis (PBC) is a chronic cholestatic liver disease, which primarily affects middle-aged women. The liver histology is characterized by inflammation and destruction of the intrahepatic bile ducts as well as a high frequency of granuloma. Although the etiology is unknown, the occurrence of associated multiorganic abnormalities such as Sjogren's syndrome, scleroderma, rheumatic disorders and thyroid gland diseases have been cited as evidence favouring an autoimmune background. Addison and Gull in 1851 described the first patient with jaundice and xanthomatosis. PBC was first mentioned in 1876 as an entity by Hanot. PBC was considered to be a rare disease until in 1973 Sherlock and Scheuer described 100 patients. Since then a greater awareness of the disease combined with a wider use of laboratory screening methods has led to the discovery of an increasing number of patients with PBC. In an epidemiological investigation of PBC in the northern part of Sweden a point prevalence of 151 per 106 was found, which is the highest so far reported, and the mean annual incidence amounted to 13.3 per 106. Asymptomatic PBC was present in more than one third of the patients which is consistent with the finding in other epidemiological investigations and is supposed to explain the higher prevalence of PBC and the better prognosis. Nevertheless 25 patients died during the study period, 14 as a direct consequence of the liver disease. Chronic intrahepatic cholestasis has been reported in sarcoidosis and, moreover, a high frequency of liver granuloma is found. The implication of the present study is that a negative Kveim test in combination with positive mitochondrial antibodies is accurate in differentiating PBC from sarcoidosis. Multisystem involvement is frequently observed in PBC and the present study confirms this. In the prospective investigation of 26 PBC patients 50 % had arthropathy considered to be associated with PBC. Rheumatoid arthritis was found in 5 patients, who all had symptoms of liver disease in addition. Lung function impairment was present in 56% (1 asymptomatic PBC). Most commonly a reduced diffusion capacity was found (36%). Bronchial asthma was present in three patients, and severe lung emphysema in one. Features of Sjogren's syndrome was found in 73% (3 asymptomatic PBC). In 6 patients keratoconjunctivitis sicca (KCS) was evident with the rose bengal test demonstrating corneal staining and a Schirmer test of less than 5 mm. Radiological findings of sialectasia were demonstrated in 6 patients, of whom 5 had KCS as well. The ultimate treatment in PBC is liver transplantation and to calculate the need for that, good epidemiological surveys are needed, and also indicators of hepatocellular function. The present investigation indicates that determination of the von Willebrand factor could be used for this purpose. / <p>Härtill 6 uppsatser</p> / digitalisering@umu

The inhalation lesion is one of the biggest mortality causes in fire exposed patients at closed places. Medium and long follow-up respiratory consequences are still rarely reported at world literature. Alveolar-capillary membrane commitment caused by inhaled particles can persist during several years and progress to bronchiolitis obliterans. Thereby, the objective of this work was to evaluate the Diffusing Capacity for Carbon Monoxide (DLCO) lung test, at patients that inhaled toxic smoke at a fire in the nightclub Kiss at January 2013, in Santa Maria, parallel 29°, south Brazil, after first year follow-up. Were included 64 patients that were submited to DLCO and 6-minutes Walk Test (WT6) measurements. Dates were obtained by standard formularies including demographic characteristics, respiratory symptoms and inhalatory medication use. DLCO average was 63% (20,95 mL/mmHg/min) from predict and WT6 distance was 505,55 meters. At studied sample, 21,8% were asthmatics and when compared to no-asthmatics, they had better DLCO (p = 0,017). There was no statistical significance when compared other variables how: tracheal intubation, dyspnea, tabagism, dessaturation at WT6, smoke exposure time and intubation duration to DLCO results. Studied patients had a DLCO reduction greater than current literature. Development of chronic pulmonary complications, especially bronchiolitis obliterans, is a concrete possibility and must be better clarified and adequate screened. Late development of this kind of complication makes a prolonged ambulatorial follow-up indispensable. / A lesão inalatória é uma das grandes causas de mortalidade em pacientes expostos a incêndios fechados. As consequências respiratórias a médio e longo prazo nos sobreviventes ainda é pouco relatada na literatura mundial. O comprometimento da membrana alvéolo capilar pelas partículas inaladas pode persistir ao longo dos anos e progredir para bronquiolite obliterante. Desta forma, o objetivo deste trabalho foi avaliar o teste de difusão do monóxido de carbono (DLCO), nos pacientes que inalaram fumaça tóxica no incêndio ocorrido na Boate Kiss em Janeiro de 2013, em Santa Maria, paralelo 29°, no Sul do Brasil, após o primeiro ano do incêndio. Ao todo foram incluídos 64 pacientes, os quais foram submetidos à medida da DLCO e ao teste de caminhada de seis minutos (TC6). Os dados foram obtidos através de questionário contendo informações que incluíam características dos pacientes, sintomas respiratórios e uso de medicação inalatória. A DLCO média foi 63% do previsto (20,95 mL/mmHg/min) e a média da distancia no TC6 foi 505,5 metros. Na amostra estudada, 21,8% eram asmáticos e quando comparados a não asmáticos, possuíam melhor DLCO com p 0,017. Não houve significância estatística quando comparados outras variáveis como: intubação orotraqueal, dispneia, tabagismo, dessaturação no TC6, tempo de exposição, dias de intubação ao resultado da DLCO. Os pacientes estudados apresentaram redução na DLCO maior que a encontrada na literatura. O desenvolvimento de complicações pulmonares crônicas, em especial, bronquiolite obliterante, é uma possibilidade concreta e deve ser esclarecida e adequadamente rastreada. A característica tardia dessas complicações torna o seguimento ambulatorial prolongado imprescindível.