Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0018681 (headache)
 56,091 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Three children with pronounced livedo reticularis present since birth (cutis marmorata-telangiectasia congenita) have been followed to the ages of eight, 17 and 21 years. During childhood they developed frequent recurrent transient stroke-like hemipareses, affecting either side of the body, associated with ipsilateral pain, headache, visual symptoms, dysphasia, fits and confusion. Intellectual failure and, in one, progressive spasticity have followed. Attacks were more frequent in winter. Other problems have included abnormal peripheral vascular responses to temperature change, gastro-intestinal bleeding, glaucoma, local tissue hypertrophy and, in the two older patients, renal involvement with hypertension. Their condition represents a form of congenital vasculopathy. Anticonvulsants, anti-migraine agents, anti-platelet drugs and flunarizine have been ineffective. Nifedipine prevented further attacks in one patient and reduced attacks in another, but has not helped the third child. Adequate clothing and warmth may also be important.
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PMID:Congenital livedo reticularis and recurrent stroke-like episodes. 840 21

A 57-year-old male with a past history of bilateral pulmonary arteriovenous fistulas (PAVFs) experienced a sudden onset of headache and gait disturbance. There was a family history of PAVF and recurrent epistaxis. He had diffuse telangiectasia of the tongue, and hereditary hemorrhagic telangiectasia was diagnosed. Neuroimaging revealed a brain abscess in the right cerebellar hemisphere, which was successfully aspirated under ultrasound guidance. The PAVFs were resected afterwards in two-staged operation. No recurrence of the abscess has been observed. Cerebral abscesses complicated by PAVF are usually supratentorial. Complete eradication of PAVF is essential because the brain abscess will sometimes recur if the PAVF is left untreated.
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PMID:Cerebellar abscess associated with pulmonary arteriovenous fistula and hereditary hemorrhagic telangiectasia--case report. 883 Dec

Acoustic neurinomas containing cystic parts are fairly common, but it is extremely rare for acoustic neurinomas to be mainly composed of cysts. So far, we have encountered three such cases. We studied these cases retrospectively to correlate their characteristic clinical symptoms and their respective pathological findings. Referring to reviews of the relevant literature and our three cases, we would like to discuss the possible mechanism of cyst formation and clinical symptoms. Compared with the patients with ordinary acoustic neurinomas, the patients in our three cases and in some cases in the literature have some distinct and possibly common clinical features. First of all, in spite of the cysts being large, hearing loss was less severe. Secondly, sudden onset of headache and hearing loss were frequently experienced, probably due to intratumoral hemorrhages. Thirdly, intratumoral hemorrhages with niveau formations were frequently able to be identified on CT or MRI scannings. Histologically, our three cases revealed lots of abnormal sinusoid or telangiectasis vessels. Small hemorrhages, hemosiderin deposits and hemosiderin-containing phagocytes were also more abundant than in solid-type neurinomas. The exact mechanism of the formation of these cysts is still controversial. Our hypotheses concerning the probable causes of cyst formation are presented in this study. In our three cases. the most distinct finding was the presence of abundant abnormal sinusoid or telangiectasis-like vessels. We suggest therefore that, in these cases, repeated small hemorrhages from these abnormal vessels, along with subsequent intratumoral changes, are the most probable cause of the formation of these cysts.
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PMID:[Acoustic neurinomas with large cystic components: a clinical and pathological study of 3 cases]. 892 14

The co-existence of multiple cerebral arteriovenous malformations (AVMs) and a spinal AVM is extremely rare. A 22-year-old man suddenly developed severe headache. Computed tomography (CT) scan showed intracerebral haemorrhage in the left occipital lobe. Cerebral angiography revealed eight AVMs; four were in the right frontal lobe and two each were in the right temporal and left occipital lobe, respectively. A huge high-flow spinal AVM was found incidentally. He had no other vascular lesions such as hereditary haemorrhagic telangiectasia. A left occipital craniotomy was performed and the ruptured left occipital AVMs were removed. Further therapeutic treatment was refused. To our knowledge, except for one autopsy case, this is the first reported patient with multiple cerebral AVMs with a spinal AVM. We discuss the characteristics of this case and review reported cases with cerebral and spinal AVMs.
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PMID:Multiple cerebral arteriovenous malformations (AVMs) associated with spinal AVM. 1021 89

The SLE database at the Rheumatology Clinic, St. Luke's Hospital currently includes 62 patients. The presentation, clinical features, ACR criteria and laboratory findings in RNP positive lupus patients [14] were compared to RNP negative subgroup [33]. RNP positivity was significantly associated with Raynaud's phenomenon (p < 0.01), myalgia (p < 0.02), myositis (p < 0.05), neuropsychiatric features (p < 0.05) and Sm positivity (p < 0.01). RNP positive patients had a higher frequency of positive family history, mortality, malar and maculopapular rashes, nail-fold infarcts, telangiectasia, digital vasculitis, photo-sensitivity, arthritis, pleurisy, pericarditis, pericardial effusions, depression, headache, psychosis and TIA.
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PMID:RNP positivity in Maltese SLE patients. 1059 38

We report 14 consecutive children with 23 posterior cranial fossa arteriovenous fistula (AVF); six had multifocal lesions, involving the supratentorial brain in three and the spinal cord in one. There were two boys and four girls with a family history compatible with hereditary haemorrhagic telangiectasia. The diagnosis was made in infancy in eight cases and in a further six before the age of 12 years; mean age at diagnosis was 3.5 years. The male-to-female ratio was 1.8:1. Presenting features were macrocrania in four cases, haemorrhage or headache in three and nonhaemorrhagic neurological deficits or and cardiac overload in two. Dominant supply to the symptomatic fistula arose from the posterior inferior cerebellar artery in five cases, anterior inferior cerebellar artery in two and the upper basilar artery system in seven. All children were primarily treated by transarterial embolisation. We treated thirteen children (93%) by transarterial embolisation alone; one older child with a history of haemorrhage also underwent radiosurgery. We obtained 100% exclusion of the fistula(e) in six children, 95-80% in five, 80-50% in one and <50% in one. Of the incompletely treated cases, three had conservative management, and two with 80% and one with 60% reduction of their lesion are scheduled for elective treatment; two partially treated case died. There was no morbidity due to the endovascular procedures. Follow-up since referral is 6 months-10 years (mean 4.5 years). Ten children are neurologically normal, two have persistent (pre-existing) neurological deficits and two are dead.
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PMID:Posterior cranial fossa single-hole arteriovenous fistulae in children: 14 consecutive cases. 1514 28

Cerebral manifestations of Osler-Weber-Rendu disease (OWRD, hereditary haemorrhagic telangiectasia) including telangiectases, venous malformations, and arteriovenous malformations, are usually under-recognised. The highest complication rate is observed in high flow cerebral arteriovenous malformations, which may present with headache, epilepsy, ischaemia, or haemorrhage. Cerebral air embolism during self-contained underwater breathing apparatus (scuba) diving as the first manifestation of pulmonary arteriovenous malformation (PAVM) in OWRD patients has never been reported before. Here we report a 31 year old male who presented desbaric air embolism as the first manifestation of PAVM. As far as we know, this is the first such case published in English medical literature.
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PMID:Desbaric air embolism during diving: an unusual complication of Osler-Weber-Rendu disease. 1527 99

The authors present the case of a 50-year-old woman with a history of CREST syndrome (calcinosis, Raynaud phenomenon, esophageal motility disorders, sclerodactyly, and telangiectasia), a variant of scleroderma, who was incidentally found to have an irregular intracranial aneurysm. The patient presented with migraine headaches. A magnetic resonance image of the brain obtained during the headache workup revealed a right posterior carotid artery wall aneurysm in the region of the anterior choroidal artery (AChA). On digital subtraction angiograms, the lesion measured 3.5 mm at its largest diameter. Because of the irregular shape of the aneurysm, the patient's relatively young age, and the potential for further aneurysm growth due to collagen disease, surgical clip application was recommended following a discussion of available treatment options. At surgery, the aneurysm was identified as bilobed and broad based, and the AChA was found to be associated with the aneurysm neck. Satisfactory clipping of the aneurysm was achieved with preservation of the parent vessels. An association of CREST syndrome with intracranial aneurysms has only been reported once before. This case is presented to draw attention to the possibility of a pathophysiological connection between CREST syndrome and intracranial aneurysms and to postulate a possible mechanism whereby this condition may result in aneurysm formation. The association of aneurysms with other pathological collagen-related conditions is well known, and literature relevant to a possible connection between CREST syndrome and aneurysms is reviewed and discussed.
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PMID:Association of an irregularly shaped anterior choroidal aneurysm with CREST syndrome. Case report. 1554 Sep 26

We encountered a case in which the symptoms of hypoxia and hemoptysis improved after performing repeated pulmonary artery embolizations and bronchial artery embolization. A 22-year-old man was hospitalized in our institution with high fever, headache and unconsciousness in May of 2001. Subendocranial abscess was diagnosed, so we performed antibiotic therapy and drainage, but at that time he showed symptoms of hypoxia. We diagnosed Osler-Weber-Rendu syndrome because of multiple small nodular shadows in his chest CT, multiple arteriovenous fistulae in both lungs on pulmonary arteriography, and telangiectasis. We performed pulmonary artery embolization 6 times, and his hypoxia and right to left shunts improved. In the course of our therapy, hemoptysis appeared and dilatation of vessels was detected in the left bronchial arteriography, so we performed embolization of the left bronchial artery and the symptom improved. We concluded that we should take care to detect not only pulmonary arterial lesions but also bronchial arterial leisions in the diagnosis and therapy of respiratory symptoms of Osler-Weber-Rendu syndrome.
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PMID:[A case of Osler-Weber-Rendu syndrome: therapeutic embolization of the pulmonary artery and bronchial artery]. 1599 91

For nasal augmentation, various materials have been used for many years. The injection of foreign body has been carried on, although it is performed mostly by laymen. Because many complications arise after augmentation rhinoplasty by foreign body injection, secondary correction has been needed. These complications have included headaches, swelling, redness, palpable mass, skin discoloration, telangiectasia and fear of cancer. The authors treated 10 patients who had undergone injection of foreign body to the nose. After the foreign body was removed, we immediately reconstructed nasal deformity by silicone implant wrapping with superficial temporal fascia. This method has many advantages including easy contouring of nasal shape and fixation, absence of foreign body reaction, reduced inflammatory reaction, no or minimal concerns regarding the migration or extrusion of the implants, and nonvisible donor scar. The mean follow-up period was 8 months, and no complications occurred. The authors conclude that nasal deformity can be successfully reconstructed immediately using silicone implant wrapping with superficial temporal fascia after foreign body is removed from the nose. In the authors' experience, this procedure has improved aesthetic appearance and met patients' expectations.
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PMID:Foreign body removal and immediate nasal reconstruction with superficial temporal fascia. 1673 81


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