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A Novel Homozygous Non-sense Mutation in the Catalytic Domain of MTHFR Causes Severe 5,10-Methylenetetrahydrofolate Reductase Deficiency
Conclusion: We identified a novel non-sense mutation in MTHFR gene in a single Egyptian family with severe MTHFR deficiency. The present investigation is clinically important, as it adds to the growing list of MTHFR mutations, which might help in genetic counseling of families of affected children and proper genotype-phenotype correlation. Background Severe 5,10-Methylenetetrahydrofolate reductase (MTHFR; OMIM 236250) deficiency is a rare inborn error of metabolism and inherited in an autosomal recessive fashion. It is a very common disorder of folate metabolism and is clinically characterized with low plasma methion...
Source: Frontiers in Neurology - April 23, 2019 Category: Neurology Source Type: research

Clinical presentation of multiple cerebral emboli and central retinal artery occlusion (CRAO) as signs of cardiac myxoma
We present a patient whose history of cerebral emboli and central retinal artery occlusion (CRAO) led to a diagnosis of cardiac myxoma.Neuroimaging studies showed multiple infarcts in the region of the left middle and anterior cerebral arteries. Ophthalmic examination showed gross retinal pallor compatible with left central retinal artery occlusion (CRAO).The etiology of stroke was investigated by performing trans-thoracic echocardiography, which showed a mass in the left atrium compatible with cardiac myxoma. Complete removal of the cardiac tumor was performed by open-heart surgery.Fortunately, after a period of rehabilit...
Source: Saudi Journal of Ophthalmology - July 10, 2018 Category: Opthalmology Source Type: research

Not as Simple as Canker Sores
BY ​NANA P. MATSUMOTO, & DEREK MEEKS, DO​​A 16-year-old boy presented to a rural ED with a swollen jaw, painful blisters in the mouth, and earache for the past day. One week before, he had a fever with chills, sore throat, and dry coughs. He was not taking any medications, and his immunizations were up-to-date. He had a mild learning disorder but no significant past medical or surgical history.​An apthous ulcer, the most common and one of the earliest signs of Behçet's disease.The patient's vital signs were within normal limits, and his physical examination revealed anterior cervical lymphadenopathy, sinus con...
Source: The Case Files - October 11, 2017 Category: Emergency Medicine Tags: Blog Posts Source Type: research

Clinical Presentation of Multiple Cerebral Emboli and Central Retinal Artery Occlusion (CRAO) as signs of Cardiac Myxoma
We present a patient whose history of cerebral emboli and central retinal artery occlusion (CRAO) led to a diagnosis of cardiac myxoma. Neuroimaging studies showed multiple infarcts in the region of the left middle and anterior cerebral arteries. Ophthalmic examination showed gross retinal pallor compatible with left central retinal artery occlusion (CRAO). The etiology of stroke was investigated by performing trans-thoracic echocardiography, which showed a mass in the left atrium compatible with cardiac myxoma. Complete removal of the cardiac tumor was performed by open-heart surgery. Fortunately, after a period of rehabi...
Source: Saudi Journal of Ophthalmology - September 15, 2017 Category: Opthalmology Source Type: research