Alzheimer＇s disease（AD）：AD,a neurodegenerative disorder and a significant cause of dementia throughout the world mostly affects the older adults but sometimes also seen in young age（early state AD）（Agrawal et a...Alzheimer＇s disease（AD）：AD,a neurodegenerative disorder and a significant cause of dementia throughout the world mostly affects the older adults but sometimes also seen in young age（early state AD）（Agrawal et al.,2017）.展开更多
Takayasu’s arteritis(TA)and Crohn’s disease(CD)are two rare autoimmune disorders;however some reports describe the presence of both diseases in the same patient.This finding has suggested the possibility that both d...Takayasu’s arteritis(TA)and Crohn’s disease(CD)are two rare autoimmune disorders;however some reports describe the presence of both diseases in the same patient.This finding has suggested the possibility that both diseases could share some common etiologic origin.We describe a case of a 13-year-old male affected by CD characterized by fever,diarrhea,weight loss,abdominal pain and elevation of inflammatory markers.Clinical and histological features from colonic specimens were consistent with CD.Treatment with steroids and azathioprine was started,however disease flared every time steroids were tapered.One year later,while still on treatment,he came back to our attention for dyspnea at rest and at night,tiredness and weakness.At physical examination a diastolic heart murmur was found as well as a left carotid artery bruit.A transthoracic echocardiography showed mild aortic valve insufficiency,left ventricular hypertrophy and a dilated ascending aorta with same findings at the aortic arch.A computed tomography scan showed abdominal aortathickening,dilated thoracic aorta and the presence of a thoracic aortic aneurysm.TA associated with CD was diagnosed and medical treatment with cyclophosphamide,steroids and aminosalicylic acid was started,with good clinical response at 6 mo follow-up.We discuss the presence of possible common causes for the two diseases and the importance of differential diagnosis in those patients characterized for intractable disease.展开更多
Introduction: The Adult Onset Still’s Disease (ASD) is a systemic auto-inflammatory affection of unknown cause seldom described in sub-Saharan Africa. We report 3 observations of ASD illustrating the diagnostic and t...Introduction: The Adult Onset Still’s Disease (ASD) is a systemic auto-inflammatory affection of unknown cause seldom described in sub-Saharan Africa. We report 3 observations of ASD illustrating the diagnostic and therapeutic difficulties of this affection in our areas. Observation 1: Our first patient is a 56 years old schoolteacher presenting an ASD in its chronic articular form. She had been followed for an inflammatory arthralgia for 10 years and of the pharyngal pains without exact diagnosis. She presented ASD’s criteria of Yamaguchi and of Fautrel. The prednisone was begun at the dose of 0.8 mg/kg/day with fast appearance of a progressive muscular weakness. Use of methotrexate at a rate of 15 mg per week, associated with low dose of prednisone was effective in long-term without any flare of the disease so far. Observation 2: Our second patient is a 30 years old dressmaker presenting an ASD in its complicated systemic form of lymphohistiocytic activation syndrome. She validated the criteria of Yamaguchi and Fautrel for ASD. She also presented resistance to corticosteroid therapy. The evolution was marked by a hospital-acquired septicemia and a multi-organ failure leading to death. The diagnosis was retrospectively confirmed after that, with the low level of the glycosylated ferritin serum value. Observation 3: The third patient is a 22 years old Guinean student who presented prolonged fever and inflammatory polyarthralgia without articular deformation. He had been misdiagnosed for ASD with diagnostic wandering of several months. He was treated successfully with prednisone after set up of ASD diagnosis according common criteria. Corticosteroid therapy was stopped after 8 months without any relapse noted so far. Conclusion: Caring for ASD is difficult in our context mainly because of high cost of several explorations needed to set up its exact diagnosis while making differential one. Evolution under corticosteroid therapy is usually favorable but diagnostic delay may lead to severe complications and death.展开更多
Wilson病（Wilson disease,WD）又称肝豆状核变性,由Samuel Alexander Kinnier Wilson于1912年系统描述,是一种常染色体隐性遗传性铜代谢障碍性疾病。缺陷基因ATP7B基因定位于染色体13q14.3[1]。由于基因突变导致铜代谢障碍,铜沉积在肝...Wilson病（Wilson disease,WD）又称肝豆状核变性,由Samuel Alexander Kinnier Wilson于1912年系统描述,是一种常染色体隐性遗传性铜代谢障碍性疾病。缺陷基因ATP7B基因定位于染色体13q14.3[1]。由于基因突变导致铜代谢障碍,铜沉积在肝、脑、肾、角膜等组织,引起一系列临床症状。不同地区人群患病率不一,全世界人群患病率为0.3/10万-3/10万[2-3],儿童约为1/50万-1/100万[4]。展开更多
文摘Alzheimer＇s disease（AD）：AD,a neurodegenerative disorder and a significant cause of dementia throughout the world mostly affects the older adults but sometimes also seen in young age（early state AD）（Agrawal et al.,2017）.
文摘Takayasu’s arteritis(TA)and Crohn’s disease(CD)are two rare autoimmune disorders;however some reports describe the presence of both diseases in the same patient.This finding has suggested the possibility that both diseases could share some common etiologic origin.We describe a case of a 13-year-old male affected by CD characterized by fever,diarrhea,weight loss,abdominal pain and elevation of inflammatory markers.Clinical and histological features from colonic specimens were consistent with CD.Treatment with steroids and azathioprine was started,however disease flared every time steroids were tapered.One year later,while still on treatment,he came back to our attention for dyspnea at rest and at night,tiredness and weakness.At physical examination a diastolic heart murmur was found as well as a left carotid artery bruit.A transthoracic echocardiography showed mild aortic valve insufficiency,left ventricular hypertrophy and a dilated ascending aorta with same findings at the aortic arch.A computed tomography scan showed abdominal aortathickening,dilated thoracic aorta and the presence of a thoracic aortic aneurysm.TA associated with CD was diagnosed and medical treatment with cyclophosphamide,steroids and aminosalicylic acid was started,with good clinical response at 6 mo follow-up.We discuss the presence of possible common causes for the two diseases and the importance of differential diagnosis in those patients characterized for intractable disease.
文摘Introduction: The Adult Onset Still’s Disease (ASD) is a systemic auto-inflammatory affection of unknown cause seldom described in sub-Saharan Africa. We report 3 observations of ASD illustrating the diagnostic and therapeutic difficulties of this affection in our areas. Observation 1: Our first patient is a 56 years old schoolteacher presenting an ASD in its chronic articular form. She had been followed for an inflammatory arthralgia for 10 years and of the pharyngal pains without exact diagnosis. She presented ASD’s criteria of Yamaguchi and of Fautrel. The prednisone was begun at the dose of 0.8 mg/kg/day with fast appearance of a progressive muscular weakness. Use of methotrexate at a rate of 15 mg per week, associated with low dose of prednisone was effective in long-term without any flare of the disease so far. Observation 2: Our second patient is a 30 years old dressmaker presenting an ASD in its complicated systemic form of lymphohistiocytic activation syndrome. She validated the criteria of Yamaguchi and Fautrel for ASD. She also presented resistance to corticosteroid therapy. The evolution was marked by a hospital-acquired septicemia and a multi-organ failure leading to death. The diagnosis was retrospectively confirmed after that, with the low level of the glycosylated ferritin serum value. Observation 3: The third patient is a 22 years old Guinean student who presented prolonged fever and inflammatory polyarthralgia without articular deformation. He had been misdiagnosed for ASD with diagnostic wandering of several months. He was treated successfully with prednisone after set up of ASD diagnosis according common criteria. Corticosteroid therapy was stopped after 8 months without any relapse noted so far. Conclusion: Caring for ASD is difficult in our context mainly because of high cost of several explorations needed to set up its exact diagnosis while making differential one. Evolution under corticosteroid therapy is usually favorable but diagnostic delay may lead to severe complications and death.
文摘Wilson病（Wilson disease,WD）又称肝豆状核变性,由Samuel Alexander Kinnier Wilson于1912年系统描述,是一种常染色体隐性遗传性铜代谢障碍性疾病。缺陷基因ATP7B基因定位于染色体13q14.3[1]。由于基因突变导致铜代谢障碍,铜沉积在肝、脑、肾、角膜等组织,引起一系列临床症状。不同地区人群患病率不一,全世界人群患病率为0.3/10万-3/10万[2-3],儿童约为1/50万-1/100万[4]。
