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

Empirical research has established the fact that the use of oral contraceptives in young women with the Factor V Leiden mutation increases the relative risk of cerebral venous sinus thrombosis. Cerebral venous sinus thrombosis is a rare cerebral vascular injury whose ambiguous presentation contributes to delayed and often-inaccurate diagnosis. This case report presents a 21-year-old White woman with a severe headache who presented to the emergency department and was diagnosed with cerebral venous sinus thrombosis. The purpose of this article is to educate advanced practice emergency care nurses on the importance of understanding genetic and acquired risk factors in diagnosing cerebral venous sinus thrombosis. A genetic risk assessment tool is introduced that advanced practice nurses may incorporate into their routine assessments to evaluate the likelihood of a genetic predisposition for illness, such as shown in this case study.
 ...
PMID:A 21-year-old white woman diagnosed with cerebral venous sinus thrombosis related to oral contraceptive and Factor V Leiden. 2231 96

Cerebral venous sinus thrombosis (CVST) is a rare but potentially life-threatening medical condition. We describe a case of a 47-year-old woman who presented with headache, speech defects, and visual disturbances, and was later diagnosed with cerebral venous sinus thrombosis. The article describes a possible risk of such thrombotic events with exposure to high altitude environment in patients with coagulation defects such as Factor V Leiden mutation. Besides, such neurological conditions can occur independent of altitude illness and need to be recognized as their management differs.
 ...
PMID:Cerebral venous sinus thrombosis at high altitude. 2242 35

A 55-year-old man was admitted to us with a sense of numbness, tingling, and burning in his feet and headache, characterized as a feeling of pressure all around his head, for 1 year and aggravated in the past 3 months. The patient's neurologic examination was normal and he had no other known diseases except for hypertension according to his medical history. During the examination, we recognized purplish lesions on the patient's body. His kidney, liver, and thyroid function test results and vitamin B12 levels were all normal. His hematocrit level was 41.8%, platelet value was 234,000 (150,000-500,000); and sedimentation rate was 9 mm/h (0-20). Electromyography was performed and results were found to be normal. The patient was diagnosed as having small fiber neuropathy. Dermatologic examination revealed reddish blue mottling of the skin with fishnet reticular pattern on his back, on the front side of the body, and on both arms and legs, and the lesions were classified as livedo racemosa (Figure 1). Brain magnetic resonance imaging (MRI) showed subcortical hyperintense ischemic-gliotic signal changes on T2-FLAIR in the deep white matter of bilateral frontoparietal vertex, centrum semiovale, and corona radiata (Figure 2). FLAIR sequence axial MRI of the brain of our patient showed subcortical hyperintense lesions in both cerebral hemispheres. His cardiac examination was normal and minimal aortic regurgitation was seen on echocardiography. His cognitive assessment Minimental Test Score was 22, and Montreal Cognitive Assessment score was 18. Laboratory values for inflammatory markers and autoimmune antibodies including syphilis serology, lupus anticoagulants, and anticardiolipin antibodies were negative. Factor V Leiden mutation was not detected in the patient. The patient was diagnosed with Sneddon's syndrome with the above signs and symptoms and small fiber neuropathy. Clopidogrel 75 mg and gabapentin 1200 mg was started once a day and blood pressure regulation was achieved.
 ...
PMID:Sneddon's syndrome presenting with neuropathic pain. 2405 13