共查询到20条相似文献,搜索用时 15 毫秒
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Drebber U Preuss SF Kasper HU Wieland U Dienes HP 《Zeitschrift für Gastroenterologie》2008,46(1):45-47
INTRODUCTION: Fulminant hepatitis due to varicella zoster virus (VZV) infection has a poor prognosis although an effective treatment is available. CASE REPORT: We present a case of fulminant hepatic failure (FHF) as a result of disseminated VZV infection in a long-term alcoholic patient who underwent laryngectomy and radical neck dissection due to squamous cell carcinoma of the larynx. Post-mortem examination revealed the diagnosis of fulminant hepatitis and infection with VZV. Viral inclusion bodies were found in the hypopharyngeal mucosa as well as in the liver tissue. In these tissues VZV was detected by PCR. The clinical presentation is suggestive for a reactivation of VZV without cutaneous signs of herpes zoster during a state of immunosuppression. DISCUSSION: Differential diagnosis comprises hepatitis by other Herpes group viruses and toxic hepatic injury. 相似文献
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H. R. Scholte H. F. M. Busch I. E. M. Luyt-Houwen 《Journal of inherited metabolic disease》1981,4(1):169-170
Muscular AMP deaminase deficiency was found in two sibs suffering from a skeletal myopathy, characterized by type I fibre atrophy and a dilated cardiomyopathy. The family history suggests an autosomal dominant inheritance of this disorder. 相似文献
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Gaspari R Arcangeli A Mensi S Wismayer DS Tartaglione T Antuzzi D Conti G Proietti R 《Annals of emergency medicine》2003,41(1):104-109
Ornithine transcarbamylase deficiency (OTCD) is an X-linked inherited disease and the most common inborn error in urea synthesis in human patients. In adult heterozygous patients, OTCD can be responsible for life-threatening hyperammonemic coma. We report the case of a 32-year-old woman admitted to our hospital with seizures after a recent high protein load. Her parents related a history of recurrent episodes of vomiting, meat refusal, lethargy, and convulsions since childhood, and measurement of plasma ammonemia levels was the key to early diagnosis of OTCD. We report the pathophysiologic characteristics, clinical features, clinical course, and differential diagnosis of OTCD and discuss the therapeutic options, including continuous venovenous hemodiafiltration and pharmacologic therapy for reduction of plasma ammonemia levels. A diagnosis of OTCD should be considered in adult nonhepatic patients with hyperammonemic coma, particularly if they have a history of protein avoidance and neurologic symptoms. Early recognition and appropriate treatment are critical to avoid severe brain damage and death. 相似文献
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Emphysema of early onset associated with a complete deficiency of alpha-1-antitrypsin (null homozygotes) 总被引:6,自引:0,他引:6
We have compared lung function in 3 subjects with no alpha 1-antitrypsin (alpha 1-protease inhibitor) (null homozygotes) with subjects having the typical deficiency, PIZZ. We identified a 31-yr-old woman, presenting with severe obstructive lung disease, who had no detectable plasma alpha 1-antitrypsin, indicating homozygosity for a "null" (or PI*QO) allele of alpha 1-antitrypsin. Two of her sisters have a similar deficiency, one with an onset of symptoms at 17 yr of age. Because of the likelihood that there are a number of different PI*QO alleles, the type in this family has been named null Mattawa (QOmattawa). All 3 homozygotes have shown a marked deterioration of lung function over a 7-yr period of follow-up. In contrast, lung function tests of 6 age-matched nonsmoking subjects with alpha 1-antitrypsin deficiency, PI type ZZ, showed no abnormalities of lung function. The 15 to 20% of the normal plasma concentration of alpha 1-antitrypsin associated with the PI*Z allele appears to provide some protection to the lung in comparison with a complete deficiency state. 相似文献
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目的:诊断一种伴有血栓性血小板减少性紫癜(TTP)特征的感染性弥散性血管内凝血(DIC),确定其临床与实验室检查的特点。方法:观察患者的临床经过,常规方法做血液生化与凝血检测以及血液细菌培养,用残余胶原结合实验测定血浆ADAMTS13活性及其抑制物。结果:患者有严重感染/败血症,临床呈暴发性经过,且有多器官功能衰竭。实验室检测显示消耗性凝血障碍,ADAMTS13活性明显降低,并存在ADAMTS13抑制物。结论:感染性DIC伴有TTP特征可能是一种新的综合征,临床呈暴发性经过,多器官功能衰竭是其死亡的主要原因。 相似文献
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K Kadono T Sakamoto M Ohtsuka M Kanashiki O Murakami M Hagiya Y Ishii A Nomura H Satoh M Inoue Y Uchida T Homma K Sekizawa S Hasegawa 《Nihon Kokyūki Gakkai zasshi》1999,37(9):733-738
A 44-year-old man was admitted to the hospital with dyspnea on exertion. Chest radiographs and pulmonary function tests showed evidence of pulmonary emphysema. Serum alpha 1-antitrypsin (alpha 1-AT) could not be detected by nephelometry, immuno-electrophoresis, or iso-electric focusing. However, allele-specific PCR revealed a genotype homozygotic for an alpha 1-AT deficient variant of the Siiyama allele. An elder sister of the proband was also a homozygous carrier of the Siiyama allele. The amino acid sequence for normal alpha 1-AT variants had been substituted by Arg101-Val213-Glu376 in the proband, demonstrating that the alpha 1-antitrypsin-deficient Siiyama variant in this pedigree was derived from M 1 (Val213). 相似文献
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Sho Yoshimura Yoshihiro Nishimura Yasuhiro Funada Kaori Takenaka Kazuyuki Kobayashi Yoshiko Urata Temiko Shimada Teruaki Nishiuma Miyako Satouchi Mitsuhiro Yokoyama 《Nihon Kokyūki Gakkai zasshi》2003,41(7):451-456
A 66-year-old man was admitted to our hospital because of progressive dyspnea on effort. Arterial blood gas analysis showed severe hypoxemia, and a chest radiograph revealed reticular shadows in both lower lungs and an increase of the cardiothoracic ratio. Echocardiography demonstrated mild indentation of the interventricular septum toward the left ventricle, moderate pericardial effusion and pulmonary hypertension. From these data, we diagnosed pulmonary thromboembolism and started anticoagulation therapy. After the addition of the administration of warfarin and oxygen therapy, his symptoms disappeared. However, we could not obtain more supporting evidence of thromboembolization by methods of ventilation-perfusion scanning, digital subtraction angiography of the pulmonary artery, or venography. Blood coagulation analysis demonstrated that the patient's plasma protein C antigen levels and its activity were depleted. The patient's son had a history of thrombophlebitis and pulmonary embolization, and his data of protein C antigen levels was also decreased. Therefore, this patient was found to have a character of familial protein C deficiency type I. We could not get the conclusive proof of pulmonary thromboembolism, but we considered that the presence of familial protein C deficiency may cause exacerbation of pulmonary hypertension. 相似文献
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对碘缺乏病(IDD)地区的非地方性克汀病儿童,进行X线骨龄判断,血清T3、T4、TSH测定、智力测验、听力测定、脑电图及脑诱发电位检查。结果显示:1.病区碘盐防治后出生儿童的亚临床甲状腺功能低下和神经系统轻度功能损害的百分比都高于非病区对照组儿童;2.在病区轻度低智儿童24人中检出地方性亚临床克汀病(亚克汀)18人(75%),另6名轻度低智儿童(25%)可能归属为缺碘性轻度低智。 相似文献
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A Ventura F Panizon M R Soranzo G Veneziano G Sansone U Testa L Luzzatto 《Acta haematologica》1984,71(4):227-234
A 6-year-old boy with chronic haemolytic anaemia was found to have glucose 6-phosphate dehydrogenase (G6PD) deficiency and the morphological, ultrastructural and serological features of congenital dyserythropoietic anaemia (CDA) type II. The patient's mother was heterozygous for G6PD deficiency. G6PD from the patient's red cells, upon partial purification and full characterization, was found to be a new variant designated G6PD Gabrovizza. We conclude that two distinct genetic abnormalities coexisted in this patient. We suggest that CDA type II may become clinically more expressed when another abnormality of the erythrocytes coexists. 相似文献
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Matraiah El Hakem Olisaka Nkiruka Philipos Mariana Walbaum David Dospinescu Paula Fluck Nicholas Basu Neil Kidder Dana 《Clinical rheumatology》2018,37(7):1991-1996
Clinical Rheumatology - Immunosuppression in anti-neutrophil cytoplasmic antibody (ANCA)-associated vasculitis (AAV) is complicated by increasing risk of infections including opportunistic... 相似文献
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K Ide K Chida T Suda S Imokawa K Tsukamoto A Todate J Sato O Yonekawa H Nakamura 《Nihon Kokyūki Gakkai zasshi》1999,37(5):410-414
A 38-year-old woman was admitted to our hospital because of recurrent chest pain and fever. Chest X-ray films and computed tomograms showed subpleural consolidation containing small cavity-like opacities. Open lung biopsy revealed non-infectious abscess and vessels with organizing thrombus. The patient was given a diagnosis of pulmonary infarction due to the existence of deep venous thrombosis. Coagulation studies demonstrated that she had decreased plasma protein S activity, whereas her free and total protein S antigen levels were normal. Because her mother and maternal uncle and aunt also demonstrated decreased protein S activity with normal plasma protein S antigen levels, the patient was considered to be affected by familial protein S deficiency type III. 相似文献