Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0010200 (cough)
 23,843 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Neurologic manifestations occur in 8-12% of the patients with Rendu-Osler-Weber disease or hereditary hemorrhagic telangiectasia (HHT), principally infectious and hemorrhagic and, less frequently, ischemic ones. More than a half of these neurologic complications are associated with pulmonary arterio-venous malformations (PAVM). The diagnosis of HHT is based on the presence of telangiectases, hemorrhagic events and a family history with an autosomal dominant pattern. We report a case of a patient diagnosed as having HHT with transient ischemic attacks and a PAVM, which was occluded by the use of embolotherapy. Cerebral ischemia in HHT is related to the existence of a PAVM and results from three mechanisms: 1) secondary poliglobulia and hyperviscosity because of the hypoxemia due to a right-left shunt; 2) communication between the airway and the pulmonary circulation during cough access, which produces gas embolism and hemoptysis; 3) and, finally, paradoxical embolism trough the PAVM, the same mechanism proposed to the infectious neurologic manifestations of the disease. When the diagnosis of HHT is suspected, early search and treatment of PAVM, with embolotherapy or surgery, are necessary in order to avoid respiratory problems (hemoptysis, exertional dyspnea, cianosis, clubbing) and neurologic complications.
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PMID:[Cerebral ischemia in Rendu-Osler-Weber disease]. 1076 36

A 36-year-old man was admitted to our hospital complaining of cough, dyspnea on exertion, skin eruptions, and joint pain. Characteristic skin lesions such as erythema around the nails, telangiectasis, and edema of the eyelids were observed in this patient. He had never complained of muscle symptoms, and his laboratory examinations showed no elevation of either CPK or aldolase. From several lines of evidence including the skin biopsy findings, amyopathic dermatomyositis was diagnosed. Chest X-ray films showed subpleural funicular opacities and consolidation in both lower lung fields. Lung biopsy specimens taken under video-assisted thoracoscopic surgery revealed nonspecific interstitial pneumonia, group II. Oral prednisolone treatment was initiated at 60 mg daily together with oral cyclosporin A (100-150 mg daily). The minimum serum concentration of cyclosporin A was maintained between 100 and 200 ng/ml. Respiratory symptoms gradually improved, and the oral prednisolone dose was tapered off. Pulmonary function and chest CT findings showed marked improvement.
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PMID:[A case of nonspecific interstitial pneumonia associated with amyopathic dermatomyositis efficiently treated with a combination of cyclosporin A and prednisolone]. 1232 32

We report a case of Castleman disease which originated from the inter-lobar lymph node, with a review of literatures. A 19-year-old woman complaining of cough was pointed out to have an abnormal shadow in the left lung field on chest X-ray. Chest computed tomography (CT) and magnetic resonance imaging (MRI) with enhancement revealed a homogeneous mass lesion at the left inter-lobar portion of the lung. Bronchoscopic findings demonstrated mucosal telangiectasis of the left lower bronchus. We performed the usual axillary thoracotomy and succeeded in extirpation of the tumor without large amount of bleeding. The tumor was elastic and hard, and 70 x 55 x 45 mm in size. Her postoperative course was uneventful and she was discharged on the 12th postoperative day.
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PMID:[Castleman disease of the inter-lobar lymph node origin]. 1635 15

We report a case of a 24-year old male presented with cough and breathlessness with diabetes mellitus and diagnosed as a case of bloom syndrome. He was a product of consanguineous marriage, having short stature, dolicocephaly, polydactyly, prominent nose with telangiectasia face. The respiratory system examination revealed bilateral coarse crepitations and wheezes and the chest X-ray revealed emphysema with right middle zone inhomogenous opacity. Also, CT thorax examination revealed bilateral cystic bronchiectasis with bronchiolitis obliterans. Bloom's syndrome was diagnosed on the basis of clinical features.
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PMID:Bloom syndrome with lung involvement. 2044 45

A 25-year-old man was admitted with elevated fever, dyspnea, cough, dorsal chest pain, and multiple nodular shadows and pleural effusion found on chest X-ray films. There were multiple swollen superficial lymph nodes, and non-caseating epithelioid cell granulomas with Langhans giant cells were detected on a biopsy specimen of a right inguinal lymph node. Bronchoscopy findings demonstrated mucosal irregularity, telangiectasia and small nodules, and another biopsy specimen was similar to that of the inguinal lymph node. The number of lymphocytes and the CD4/CD8 ratio were elevated in his bronchoalveolar lavage fluid, and serum ACE and lysozymes levels were also elevated. These findings are compatible with sarcoidosis. Although his symptoms and pleural effusion improved with the administration of 30 mg/day prednisolone (PSL), these findings recurred after about 4 weeks. Therefore, we increased the PSL dose to 60 mg/day, and his symptoms, pleural effusions and laboratory data improved again. There were no signs of relapse after tapering and discontinuance of PSL.
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PMID:[A case of sarcoidosis with bilateral pleural effusion treated with high-dose steroids]. 2159 58

Pulmonary arteriovenous malformations (PAVMs) comprise an anomalous communication between the pulmonary arterial and systemic circulation. The drainage is usually into one of the pulmonary veins, although rare instances of direct drainage into the left atrium or inferior vena cava have been reported. The result is a high-flow, low-resistance, right-toleft shunt. Although considered uncommon, PAVMs are being diagnosed with increasing frequency in this era of enhanced cross-sectional imaging with CT for lung screening. There is a strong association between PAVMs and hereditary haemorrhagic telangiectasia (HHT); PAVMs are more commonly found in females, with a female to male ratio of 8:1. These have varying clinical presentation, with most symptomatic PAVMs being diagnosed in the first three decades of life. The most common mode of presentation is dyspnoea on exertion. Other reported symptoms are epistaxis, chest pain, cough and, in the event of rupture, haemoptysis. Endocarditis, stroke and brain abscess formation occur frequently in patients with undiagnosed HHT with PAVMs. A 76-year-old female, with a presumed clinical diagnosis of asthma, presented to the emergency department with worsening shortness of breath. The imaging studies revealed a giant PAVM and a radionuclide scan demonstrated a large right-to-left shunt, likely accounting for her symptoms. She underwent successful transcatheter embolization (TCE) with a vascular plug performed by the interventional radiology team. The aim of this case report is to describe the imaging findings and TCE treatment of a giant PAVM.
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PMID:Imaging features and transcatheter treatment of a giant pulmonary arteriovenous malformation in an elderly patient. 3036 86

Poikiloderma is a hereditary pathologic situation in which the appearance of skin rash is associated with epidermal atrophy, telangiectasia, and reticular dyspigmentation skin symptoms of poikiloderma are usually caused by sun damage. The main reason forpoikiloderma is unknown. We introduce a 14- month-old boy who referred to our center with a complaint of fever and cough. Furthermore, hepatosplenomegaly symptoms had been presented at the time of birth and were continuously observed at age one. He had transient thrombocytopenia when he was born due to his prematurity condition, which was resolved during Intravenous Immunoglobin (IVIG) treatment. Therefore, the presence of various mutation scan lead to distinct clinical symptoms. Immunohematologic abnormalities such as increased level of IgM and IgE antibodies, as well as increased C-reactive protein (CRP) and Erythrocyte sedimentation rate (ESR), have been reported. However, mutation of the C16orf57 gene was identified in this patient. We also introduced a new genetic mutation in a particular part of DNA sequence (NM_001195302: exon6: c.T703C) that leads to new clinical finding in PN.
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PMID:Identification of a Novel C16orf57 Mutation in Iranian Patient with Clericuzio-type Poikiloderma with Neutropenia (CPN): A Case Report. 3152 52

A 40-year-old man presented with a 1-year history of asymptomatic multiple raised reddish lesions that started on the face and gradually progressed in size and number to involve the neck, trunk, and arms. There was no history of fever, fatigue, weight loss, arthralgia, cough, dyspnea, or ocular complaints. Past and family history was insignificant, and no significant drug history could be elicited. On examination, multiple reddish brown, shiny, firm papuloplaques and nodules were present over the face, neck, and arms. There was a reddish brown plaque with central depression and overlying prominent telangiectasia over the left perioral area. The lesions over the posterolateral aspects of the arms were atrophic with peripheral reddish brown papules and central clearing, assuming an annular configuration. There were multiple large indurated subcutaneous and atrophic plaques over the arm and back. The palms, soles, hair, nail, and mucosal areas were not involved.
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PMID:Polymorphic Eruption of Extensive Cutaneous Sarcoidosis. 3279 Jun 17

This article reports two children with hereditary hemorrhagic telangiectasia (HHT). Patient 1 was a boy aged 12 years and was admitted due to intermittent cough and wheezing for more than 10 years. This boy and his mother and grandmother had a history of epistaxis. The boy had a history of the rupture of cerebral arteriovenous malformations. Gene detection showed a heterozygous mutation, c.277C>T(p.Arg93*), in the ENG gene. Patient 2 was a girl aged 13 years and was admitted due to cyanosis of lips for more than 1 year. The girl had a history of recurrent epistaxis and the manifestations of severe decline in pulmonary diffuse function, pulmonary hypertension, dilation of blood vessels at the distal end of lungs, and small arteriovenous communications in both lungs. Children with HHT often lack typical respiratory symptoms, which may lead to missed diagnosis and misdiagnosis in the early stage. Pulmonary computed tomography or right cardiac acoustic contrast can help with the diagnosis of HHT, and gene detection can improve the early diagnostic rate of this disease.
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PMID:[Hereditary hemorrhagic telangiectasia: a report of two cases]. 3293 40