Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0344232 (blurred vision)
 2,072 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 10-year-old boy had a 4-month history of blurred vision and severe occipital headaches. Visual acuity was diminished bilaterally, but ophthalmoscopy was normal, and the correct diagnosis was delayed until inferior bitemporal defects were found. Cranial CT scans and vertebral angiograms demonstrated a giant aneurysm at the bifurcation of the basilar artery. Bitemporal hemianopsia occurring in children is usually due to craniopharyngioma or chiasmal glioma. To the best of our knowledge, this is the first report of a patient whose chiasmal syndrome was due to a basilar artery aneurysm and whose visual deficit improved after occlusion of the aneurysm.
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PMID:Bitemporal hemianopsia in basilar artery aneurysm. 621 52

We describe a case of primary intracranial medulla oblongata germinoma in a 16-year-old girl who presented with progressive headache and blurred vision. Magnetic resonance imaging demonstrated a heterogeneous exophytic mass arising from dorsal aspect of medulla oblongata with extension into fourth ventricle. The differential diagnosis for this patient had included ependymoma, exophytic glioma, medulloblastoma and choroid plexus papilloma. After surgical resection and radiation therapy, she remains alive and recurrence-free for 7 years.
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PMID:Primary medulla oblongata germinoma: a case report and review of the literature. 1277 87

A rare case of neurosarcoidosis presenting as an isolated quadrigeminal plate mass without systemic manifestation of this disease is reported. This 26-year-old man presented with symptoms of acute intracranial hypertension including headache, morning vomiting as well as a right homonymous hemianopsia. Magnetic resonance imaging (MRI) showed an expansive tectal mass causing hydrocephalus secondary to an aqueductal obstruction. An external ventricular drainage was inserted and the mass, postulated to be a glioma, was removed through an occipital transtentorial craniotomy. Histopathological examination revealed numerous sarcoid granulomas. Postoperative course was relevant for bilateral hypoacusis and tinnitus, blurred vision, bilateral palpebral ptosis and bilateral internuclear ophthalmoplegia. Chest X-ray was normal. Postoperative thoracic computed tomography (CT) scan showed mediastinal adenopathies. Lung function tests were normal. Angiotensin converting enzyme (ACE) cerebrospinal fluid (CSF) blood ratio was normal. Postoperative treatment and follow-up included corticosteroids, serial lung function tests and cerebral MRI. Neurosarcoidosis may present with protean clinical manifestations and unusual radiological features. This rare diagnosis has to be kept in mind when facing isolated intracerebral mass lesions.
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PMID:Neurosarcoidosis presenting as an isolated mass of the quadrigeminal plate. 1863 66

We report a 63-year-old, previously healthy female patient with glioblastoma multiforme of the optic nerve and chiasm presenting as acute anterior optic neuropathy. She presented with a 3-week history of progressively increasing headaches, retrobulbar pain, rapidly progressive visual loss in the right eye and blurred vision in the left eye. Early clinical examination revealed right optic disc swelling and she was initially diagnosed with demyelinating optic neuritis. Her clinical course deteriorated with total visual loss in the right eye and progressive visual loss in the left eye despite treatment with intravenous (IV) methylprednisone and IV immunoglobulins. MRI revealed enhancement of the right optic nerve and optic chiasm, with multiple periventricular hyperintense foci. Six weeks later, the patient presented with left facial palsy and left hemiparesis. Follow-up MRI showed multiple enhancing lesions in addition to the previous lesions involving right lentiform and right thalamic nucleus, right cerebral peduncle, right temporal and parietal lobes. Although the optic nerve biopsy was inconclusive, the brain biopsy revealed glioblastoma multiforme. This report demonstrated that malignant glioma of adulthood may be multicentric and may mimic optic neuritis clinically, which might help explain the difficulties in diagnosis.
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PMID:Multifocal malignant optic glioma of adulthood presenting as acute anterior optic neuropathy. 2155 Feb 55

Since its introduction in 2016, the revision of the World Health Organization (WHO) classification of central nervous system tumors has already changed the diagnostic and therapeutic approach in glial tumors. Blurring the lines between entities formerly labelled as "high-grade" or "low-grade", molecular markers define distinct biological subtypes with different clinical course. This new classification raises the demand for non-invasive imaging methods focusing on depicting metabolic processes. We performed a review of current literature on the use of amino-acid PET (AA-PET) for obtaining diagnostic or prognostic information on glioma in the setting of the current WHO 2016 classification. So far, only a few studies have focused on combining molecular genetic information and metabolic imaging using AA-PET. The current review summarizes the information available on "molecular grading" as well as prognostic information obtained from AA-PET and delivers an insight into a possible interrelation between metabolic imaging and glioma genetics. Within the framework of molecular characterization of gliomas, metabolic imaging using AA-PET is a promising tool for non-invasive characterization of molecular features and to provide additional prognostic information. Further studies incorporating molecular and metabolic features are necessary to improve the explanatory power of AA-PET in glial tumors.
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PMID:The role of amino-acid PET in the light of the new WHO classification 2016 for brain tumors. 2969 47

Glioma, which accounts for more than 30% of primary central nervous system tumours, is characterised by symptoms such as headaches, epilepsy, and blurred vision. Glioblastoma multiforme is the most aggressive, malignant, and lethal brain tumour in adults. Even with progressive combination treatment with surgery, radiotherapy, and chemotherapy, the prognosis for glioma patients is still extremely poor. Compared with the poor outcome and slowly developing technologies for surgery and radiotherapy, the application of targeted chemotherapy with a new mechanism has become a research focus in this field.Moreover, targeted therapy is promising for most solid tumours. The tumour-tropic ability of stem cells, including neural stem cells and mesenchymal stem cells, provides an alternative therapeutic approach. Thus, mesenchymal stem cell-based therapy is based on a tumour-selective capacity and has been thought to be an effective anti-tumour option over the past decades. An increasing number of basic studies on mesenchymal stem cell-based therapy for gliomas has yielded complex outcomes.In this review, we summarise the biological characteristics of human mesenchymal stem cells, and the current status and potential challenges of mesenchymal stem cell-based therapy in patients with malignant gliomas.
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PMID:Current status and potential challenges of mesenchymal stem cell-based therapy for malignant gliomas. 3014 53