PURPOSE: To show that chiasmal hypoplasia or aplasia need not be an isolated developmental anomaly and to examine the spectrum of associated clinical findings to explore the possibility that these patients may represent a phenotypic manifestation of a developmental gene anomaly. DESIGN: An observational case series. PARTICIPANTS: Five infants, between several weeks and 7 months of age, in whom the electrophysiologic characteristic of chiasmal hypoplasia had been noted were included. METHODS: Flash electroretinography and flash and pattern visual-evoked potentials (VEPs) were elicited from all patients. Clinical ophthalmologic examinations, including funduscopy, were performed, and all patients had magnetic resonance imaging (MRI) brain scans. MAIN OUTCOME MEASURES: The occipital distribution of monocular VEP response peaks was studied. The symmetry of lateral channel responses was compared for monocular stimulation. RESULTS: All five patients had a crossed asymmetry in the monocular VEP occipital distribution, which is consistent with a paucity of fibers crossing at the chiasm. The MRI findings supported this electrophysiologic observation, illustrating degrees of chiasmal hypoplasia and variable coincidence of other midline abnormalities of the brain. Optic disc appearances varied from normal to hypoplastic and colobomatous. CONCLUSIONS: The ophthalmologic and MRI findings of five patients who showed a crossed asymmetry in monocular flash VEPs are consistent with a paucity of axons crossing at the chiasm. The similarities between achiasmia in humans and mice due to a Pax2 gene anomaly are discussed. 相似文献
To examine the association between previous radiation exposure and idiopathic perifoveal telangiectasis (IPT).
Design
A multicentered, individually matched, case-control study design was used.
Participants/controls
Sixty-five case subjects were matched with 175 control subjects. Individuals with unequivocal evidence of angiographically confirmed IPT were included as cases. Control subjects were matched for center, age, and gender.
Main outcome measure
The main exposures of interest were a history of therapeutic head or neck irradiation and environmental radiation exposure.
Methods
A standardized questionnaire was administered to case and control subjects. Data were collected for the main exposures of interest as well as pertinent covariates. Conditional logistic regression was used to evaluate therapeutic and environmental radiation as risks for IPT.
Results
On univariate analysis, head or neck irradiation was associated with IPT (odds ratios [OR] = 4.15, 95% confidence interval [CI] = 1.30–13.24). While controlling for diabetes and family history of diabetes, IPT was found to be associated with both head or neck irradiation (OR = 4.06, 95% CI = 1.20–13.76) and with environmental irradiation (OR = 6.73, 95% CI = 1.06–42.74).
Conclusions
This study presents a previously unreported association between prior radiation exposure and IPT. 相似文献
OBJECTIVE: To characterize the clinical features and course of patients with magnetic resonance imaging (MRI)-defined optic nerve compression by the supraclinoid carotid artery. DESIGN: Retrospective, observational case series. PARTICIPANTS: Eighteen patients with 24 affected eyes were identified by reviewing case records from the author's referral-based neuro-ophthalmology practice. Predetermined inclusion and exclusion criteria were applied to potential participants. MAIN OUTCOME MEASURES: The following variables were abstracted from the medical record: age, gender, presenting symptoms, past medical problems, visual acuity, color vision, visual field, pupillary reactions, optic disc appearance, other neurologic signs, and previously documented and follow-up examinations. RESULTS: There were eight women and ten men ranging in age from 28 to 86 years (median age, 72 years) at the time of diagnosis. Ten (56%) of 18 patients had hypertension. Twelve patients had unilateral optic neuropathy, whereas 6 patients had bilateral optic neuropathy. One patient presented with subacute superior orbital fissure syndrome due to mass effect of a dolichoectatic carotid artery. Another patient had oculomotor nerve palsy with signs of aberrant regeneration due to intracavernous mass effect of a dolichoectatic carotid artery. One patient had a bitemporal hemianopia associated with bilateral compression of the immediate prechiasmatic optic nerves by dolichoectatic carotid arteries. The predominant pattern of visual field loss in most patients reflected nerve fiber bundle injury. A central scotoma or absolute central visual field loss was noted in only 6 (25%) of 24 affected eyes. Most patients demonstrated saucerlike excavation of the optic disc. Progression of visual acuity loss occurred at a relatively slow rate. CONCLUSIONS: Although uncommon, intracranial compression of the optic nerve by the carotid artery should be considered in a patient with unexplained or progressive unilateral or bilateral optic neuropathy. This entity can be diagnosed using clinical skills to exclude more common causes of optic nerve injury and coronal-oriented MRI to confirm anatomic compression of the symptomatic optic nerve. Although many affected patients have excavation of the optic disc and nerve fiber bundle visual field defects, most have additional signs atypical for glaucoma, minimizing the potential for diagnostic confusion between the two disorders. 相似文献
Dose-related effects of ethanol (placebo, 0.30, and 0.60 g/kg) on behavioral and event-related brain potential (ERP) indices
of involuntary attention shifting of audition were investigated. ERPs were recorded from 11 healthy social drinkers during
a forced-choice reaction-time (RT) task. Subjects were presented with 100 and 200 ms tones (P = 0.50 for each) with a constant inter-stimulus interval (ISI) of 1 s. The task was to press either of two buttons, depending
on the tone duration. The majority of the tones (“standards”) were of 700 Hz (P = 0.82). Occasionally, however, the frequency of the tones changed, deviating either slightly (750 Hz), moderately (900 Hz),
or widely (1200 Hz; P = 0.06 for each) from the standard frequency. In accordance with previous findings, the task-irrelevant frequency deviations
prolonged the RT. This RT prolongation was attenuated by alcohol with the 0.3 g/kg dose, thus suggesting less distraction
by irrelevant stimulus deviations under the influence of ethanol. Furthermore, the P3a, reflecting involuntary attention shifting,
was suppressed by alcohol even with the 0.3 g/kg dose. These findings demonstrate a detrimental effect of alcohol on involuntary
attention shifting, evident with doses considerably smaller than previously described, and still juridically acceptable in
road traffic in most countries.
Received: 19 December 1997/Final version: 26 May 1998 相似文献
Objective. To describe factors related to compliance diagnostic follow‐up among minority women of low socioeconomic status with abnormal screening mammograms.
Methods. A retrospective cross‐sectional survey using a structured telephone interview. Three cancer screening clinics at an urban inner‐city public hospital. All women with abnormal screening mammograms between September 1990 and January 1992 were eligible; women were interviewed in August 1992. Abnormal mammograms were those requiring specific, non‐routine clinical follow‐up; non‐compliance was defined as delayed follow‐up (four to six months after the date of the mammogram), or no follow‐up at the time of interview (more than 6 months after abnormal).
Results. Sixty‐two of 442 screened women had abnormal results; the overall rate of non‐compliance with follow‐up was 50%. Among the 42 (68%) women who agreed to be interviewed, non‐compliers were less likely to state that they had been told to receive follow‐up than compilers (65% versus 100%; p = 0.008). Non‐compliant women were less likely to have suspicious mammography interpretations (p = 0.05), and more likely to report barriers to follow‐up, such as cost of lost wages and medical care, system barriers, or fears, than compliant women (61.9% versus 9%, p = 0.01). There were no differences between the two groups for age, education, insurance, source of care, family history, knowledge or attitudes.
Conclusions. These preliminary results suggest that follow‐up of low income, minority women with abnormal screening mammograms could be enhanced by improved communication of results. Future studies should extend these findings with larger samples and in other settings and populations. 相似文献