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Alberto Galvez-Ruiz, Anthony J Lehner, Alicia Galindo-Ferreiro, Patrik Schatz
Papillorenal syndrome (PAPRS; Mendelian Inheritance in Man [MIM] 120330) is an autosomal dominant disease characterised by the presence of congenital renal and optic nerve abnormalities associated with mutations of the PAX2 gene. In this article, the authors present four patients with PAPRS who are carriers of three new PAX2 mutations, as well as another patient with a possible non-pathogenic variant of the PAX2 gene. All patients were given a full neurophthalmological examination, and all patients underwent a genetic test for PAX2 ...
October 2017: Neuro-ophthalmology
O Rodriguez-Gomez, A Sanabria, A Perez-Cordon, D Sanchez-Ruiz, C Abdelnour, S Valero, I Hernandez, M Rosende-Roca, A Mauleon, L Vargas, M Alegret, A Espinosa, G Ortega, M Guitart, A Gailhajanet, O Sotolongo-Grau, S Moreno-Grau, S Ruiz, M Tarragona, J Serra, E Martin, E Peleja, F Lomeña, F Campos, A Vivas, M Gomez-Chiari, M A Tejero, J Giménez, P Pesini, M Sarasa, G Martinez, A Ruiz, L Tarraga, M Boada
BACKGROUND: Long-term longitudinal studies with multimodal biomarkers are needed to delve into the knowledge of preclinical AD. Subjective cognitive decline has been proposed as a risk factor for the development of cognitive impairment. Thus, including individuals with SCD in observational studies may be a cost-effective strategy to increase the prevalence of preclinical AD in the sample. OBJECTIVES: To describe the rationale, research protocols and baseline characteristics of participants in the Fundació ACE Healthy Brain Initiative (FACEHBI)...
2017: Journal of Prevention of Alzheimer's Disease
Ananth Bhosale, Virna M Shah, Parag K Shah
AIM: To study the usefulness of orbital ultrasonography in the diagnosis of papilledema. METHODS: Fifty patients who were referred to the neurophthalmology clinic and clinically suspected to have papilledema were selected. Thorough, clinical examination with slitlamp biomicroscopy and visual acuity assessment was done. These patients underwent ultrasonography to demonstrate the crescent sign. The patients were further evaluated with the neurologist and magnetic resonance imaging (MRI) thus confirming the diagnosis of papilledema...
September 26, 2017: World Journal of Methodology
Do Hyun Kim, Yong-Kil Hong, Sin-Soo Jeun, Jae-Sung Park, Dong-Jun Lim, Soo Whan Kim, Jin Hee Cho, Yong Jin Park, YulGyun Kim, Sung Won Kim
OBJECTIVE: In February 2009, the authors' center formed a team of neurosurgeons, otolaryngologists, endocrinologists, and radiologists to perform pituitary surgery using the endoscopic endonasal transsphenoidal approach (EETSA). This paper reviews the authors' experience with the technique, pathological outcomes, hormone profiles, and postoperative complications. METHODS: Between February 2009 and December 2015, 535 patients underwent the EETSA with 2-nostrils/4-hands surgery...
June 2017: Journal of Craniofacial Surgery
Do Hyun Kim, Yong-Kil Hong, Sin-Soo Jeun, Jae-Sung Park, Dong-Jun Lim, Soo Whan Kim, Jin Hee Cho, Yong Jin Park, YulGyun Kim, Sung Won Kim
OBJECTIVE: In February 2009, the authors' center formed a team of neurosurgeons, otolaryngologists, endocrinologists, and radiologists to perform pituitary surgery using the endoscopic endonasal transsphenoidal approach (EETSA). This paper reviews the authors' experience with the technique, pathological outcomes, hormone profiles, and postoperative complications. METHODS: Between February 2009 and December 2015, 535 patients underwent the EETSA with 2-nostrils/4-hands surgery...
January 31, 2017: Journal of Craniofacial Surgery
Diego Torres Dias, Michele Ushida, Roberto Battistella, Syril Dorairaj, Tiago Santos Prata
BACKGROUND: To analyze the most common neurophthalmological conditions that may mimic glaucomatous optic neuropathy and to determine which most often lead to misdiagnosis when evaluated by a glaucoma specialist. METHODS: We reviewed the charts of consecutive patients with optic neuropathies caused by neurophthalmological conditions screened in a single Eye Clinic within a period of 24 months. Within these enrolled patients, we selected the eyes whose fundoscopic appearance could resemble glaucoma based in pre-defined criteria (vertical cup-to-disc ratio ≥0...
January 10, 2017: BMC Ophthalmology
Nuno G Pinto Ferreira, Luiz Menezes Falcão, Antonio T Alves, Fatima Campos
Giant cell arteritis with ocular involvement is an ocular emergency. Arteritic anterior ischaemic optic neuropathy (AAION) is the most common ophthalmological manifestation associated with this disease. Visual loss is usually permanent with rare cases showing visual recovery. Visual improvement, if it occurs, is generally limited, and the visual field defects are persistent and severe. The main goal of AAION treatment is the preservation of vision in the fellow eye. In patients with neurophthalmological manifestations, high-dose corticosteroids should be initiated immediately and aggressively, and maintained thereafter...
September 28, 2015: BMJ Case Reports
Elisa Fazzi, Sabrina Giovanna Signorini, Stefania Maria Bova, Roberta La Piana, Paola Ondei, Chiara Bertone, Walter Misefari, Paolo Emilio Bianchi
Cerebral visual impairment is a visual function deficit caused by damage to the retrogeniculate visual pathways in the absence of any major ocular disease. It is the main visual deficit in children in the developed world. Preperinatal hypoxic-ischemic damage is the most frequent cause of cerebral visual impairment, but the etiology is variable. The authors set out to evaluate the presence of visual disorders not attributable to any major ocular pathology in a sample of children with central nervous system disease and to describe the clinical picture of cerebral visual impairment in this cohort...
March 2007: Journal of Child Neurology
Debamalya Ray, Ajay Nigam
OBJECTIVE: Paraneoplastic neurologic syndrome with otoneurophthalmologic manifestations is much less common than direct, metastatic, and treatment-related complications of cancer. Few studies have focused on patients presenting with paraneoplastic syndrome before a cancer is identified. PATIENT: We describe a case of combined paraneoplastic brainstem/limbic encephalitis and Lambert-Eaton myasthenic syndrome in a patient with small cell lung cancer and positive antiamphiphysin antibodies who initially presented with otoneurophthalmologic signs and symptoms to the ears, nose, and throat clinic...
September 2007: Otology & Neurotology
Vera C Zingler, Christian Cnyrim, Klaus Jahn, Eva Weintz, Julia Fernbacher, Claudia Frenzel, Thomas Brandt, Michael Strupp
OBJECTIVE: To determine the causative factors and epidemiology of bilateral vestibulopathy (BV). METHODS: This is a retrospective review of 255 patients (mean age, 62 +/- 16 years) with BV diagnosed in our dizziness unit between 1988 and 2005. All patients had undergone a standardized neurophthalmological and neurootological examination, electronystagmography with caloric irrigation, cranial magnetic resonance imaging or computed tomography (n = 214), and laboratory tests...
June 2007: Annals of Neurology
M F Silva, P Faria, F S Regateiro, V Forjaz, C Januário, A Freire, M Castelo-Branco
Sensory deficits have been documented in Parkinson's disease, in particular within the visual domain. However, ageing factors related to the brain and to neural and non-neural ocular structures could explain some of the previously reported results, in particular the claimed impairment within the koniocellular pathway. This study addressed visual impairment attributable to the magno- (luminance), parvo- (red-green) and koniocellular (blue-yellow) pathways in a population of Parkinson's disease patients. To avoid potentially confounding factors, all subjects underwent a full neurophthalmological assessment which led to exclusion of subjects with increased intraocular pressure, diabetes even in the absence of retinopathy, and ocular abnormalities (from a total of 72 patients' eyes, 12 were excluded)...
October 2005: Brain: a Journal of Neurology
Elisa Fazzi, Sabrina G Signorini, Carla Uggetti, Paolo Emilio Bianchi, Josée Lanners, Giovanni Lanzi
Leber congenital amaurosis (LCA) is the most severe form of inherited retinal dystrophy that presents in infancy. LCA is both clinically and genetically heterogeneous. The aim of our study was to clarify the clinical aspects of LCA and to contribute to improved characterization of the disorder. We studied 40 children affected by LCA (mean age at first observation: 19 months, range: 8-50 months), who underwent a comprehensive evaluation that included: neurophthalmological evaluation, electroretinogram (ERG), and visual evoked potentials (VEPs), general and neurological examinations, developmental assessment using scales for visually impaired children, neuroradiological examinations, hepatic and renal function and metabolic investigations, brainstem auditory evoked potentials (BAEPs), EEG, and hand radiographs...
January 1, 2005: American Journal of Medical Genetics. Part A
Elisa Fazzi, Stefania Maria Bova, Carla Uggetti, Sabrina Giovanna Signorini, Paolo Emilio Bianchi, Ilaria Maraucci, Marina Zoppello, Giovanni Lanzi
We set out to define visuo-perceptual impairment related to periventricular leukomalacia (PVL) using the Developmental Test of Visual Perception (DTVP). Correlations were sought between visual-perceptual deficits and DTVP profile and neuroradiological and neurophthalmological findings. The DTVP was administered to 20 children (m/f: 10/10), aged between 5 and 8 years (mean: 6.95 years), presenting with: spastic diplegia; PVL documented by brain MRI; normal or mildly impaired visual acuity; mild-moderate upper limb functional impairment...
December 2004: Brain & Development
William C Hanigan, Sarah N Zallek
OBJECTIVE: This report describes two shunted patients evaluated with continuous intracranial pressure (ICP) monitors for worsening headaches and subsequently diagnosed with obstructive sleep apnea. CLINICAL PRESENTATION AND INTERVENTION: ICPs were monitored with strain-gauge sensors inserted into the frontal cortex. After the initial diagnosis of sleep apnea, 8-hour attended polysomnography was performed in each patient. Both patients showed apnea-hypopnea indices greater than 15...
March 2004: Neurosurgery
B Girard, F Bourcier, I Agdabede, L Laroche
PURPOSE: To investigate the numbers and characteristics of patients with ophthalmological emergencies presenting at a general hospital. METHODS: Retrospective analysis of ophthalmological emergencies over 11 years included comparison with demographic changes and, over the last 2 years, analysis of the patients treated (age, sex, and pathology, according to 23 preselected pathologies). Ophthalmological examinations were done by a senior ophthalmologist. RESULTS: The activity rose from 396 patients in 1989 to 2,793 in 2000...
September 2002: Journal Français D'ophtalmologie
M B Eisenberg, O Al-Mefty, F DeMonte, G T Burson
OBJECTIVE: Resection of benign cavernous sinus tumors with minimum morbidity and mortality is increasingly more common. Although meningiomas have dominated most discussions, numerous nonmeningeal tumors also deserve attention because they are generally more amenable to radical surgical resection. METHODS: We reviewed the records of 40 patients (19 female and 21 male patients) who were treated surgically during a 15-year period for benign, nonmeningeal tumors of the cavernous sinus...
May 1999: Neurosurgery
A Alcalá, O Fernández, C Juárez
With the aim of defining the neuro-ophthalmological alterations in multiple sclerosis, both with respect to visual and oculomotor aspects, we have studied a sample of 100 clinically definite multiple sclerosis patients, all in the remittent phase of the disease. We compared them with a sample of 100 unrelated healthy controls, matched for age and sex. Visuomotor alterations were found in 99%, purely visual alterations in 38%, purely oculomotor alterations in 3%, and mixed alterations in 58% of the MS patients...
February 1994: Neurología: Publicación Oficial de la Sociedad Española de Neurología
E C Dillon, R C Sergott, P J Savino, T M Bosley
PURPOSE: To determine whether the "gatekeeper physician system" for evaluating neuro-ophthalmologic problems is cost effective. METHODS: The authors retrospectively reviewed the records of 588 patients referred for neuro-ophthalmologic evaluation between July and December 1989 to determine the frequency and cost of unnecessary diagnostic testing ordered by "gatekeeper physicians." Pre-referral diagnostic testing costs were compared with the cost of neurophthalmologic consultation for four common problems: (1) optic neuropathy; (2) diplopia; (3) ptosis; and (4) proptosis...
September 1994: Ophthalmology
J Kattah
Visual and oculomotor changes may be the only abnormalities in patients complaining of headache. Ocular signs are common during episodes of migraine and cluster headache. Temporal arteritis may be an extracranial cause of ocular signs. Intracranial disorders include painful ophthalmoplegia, pseudotumor cerebri and various causes of increased intracranial pressure. Neurophthalmologic evaluation in headache patients must include assessment of visual acuity and visual fields, examination of pupils (including pharmacologic testing), ophthalmoscopic examination and auscultation for bruits...
March 1982: American Family Physician
J L Vola, P Gastaud, J Leid
No abstract text is available yet for this article.
January 1983: Revue D'oto-neuro-ophtalmologie
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