ABCR expression in foveal cone photoreceptors and its role in Stargardt macular dystrophy.

Mutations in the gene encoding ABCR are responsible for Stargardt macular dystrophy. Here we show by immunofluorescence microscopy and western-blot analysis that ABCR is present in foveal and peripheral cone, as well as rod, photoreceptors. Our results suggest that the loss in central vision experienced by Stargardt patients arises directly from ABCR-mediated foveal cone degeneration.

Toxicity of intravitreous miconazole.

Miconazole nitrate is a broad-spectrum antimycotic agent with low systemic and ocular toxicity. Since this drug does not adequately penetrate the vitreous cavity by topical, subconjunctival, or intravenous routes, we determined whether it can be given intravitreously for fungal endophthalmitis. Retinal and lens toxicity studies were carried out in 40 rabbits and three owl monkeys. Results showed that both miconazole and its vehicle produced toxic damage to the retina and crystalline lens in concentrations of 100 micrograms or greater. Concentrations of 10 to 80 micrograms caused mild to moderate retinal necrosis in some rabbit eyes. In monkey eyes, these concentrations did not cause significant histopathologic or electroretinographic changes. We believe that clinical use of this drug in doses not to exceed 40 micrograms may be justified in desperate cases of fungal endophthalmitis.

Distribution of cerebral flow using retrograde versus antegrade cerebral perfusion.

BACKGROUND: This study compared flow to the brain with retrograde and antegrade cerebral perfusion during circulatory arrest. METHODS: Twenty-four rabbits were injected with 5 mCi of technetium-99 macroaggregated albumin, a tracer trapped in the capillaries. Group I (n = 6) were maintained normothermic, and the tracer was injected into the ascending aorta. Group II (n = 6) were maintained normothermic, and underwent cannulation of the superior vena cava (SVC), exsanguination through the aorta, and injection of the tracer into the SVC, which was proximally occluded. In group III (n = 6), the animal was cooled to 25 degrees C. The animal was exsanguinated through the aorta and tracer was injected into the ascending aorta. In group IV (n = 6), animals were cooled to 25 degrees C. The animal was exsanguinated through the ascending aorta and tracer was injected into the SVC. Three animals (group V) were exsanguinated through the ascending aorta and a retrograde venogram of the SVC was performed. Scintigraphy of groups I to IV was carried out on a digital gamma camera. Brain trapping of tracer was graded from 0 to 5, with 0 being no tracer in the brain and 5 being dominant tracer trapping in the brain. RESULTS: Tracer trapping in the brain showed group I, 3.67+/-0.82; group II, 0; group III, 4.67+/-0.41; group IV, 0.17+/-0.41 (p<0.0001). Retrograde venogram of the SVC showed flow into the cerebral veins. CONCLUSIONS: Retrograde flow through the SVC reaches the cerebral venous system. Flow arriving in retrograde fashion does not go through the capillary system.

Plasma amino-acids in hereditary retinal disease. Ornithine, lysine, and taurine.

Plasma free amino-acids were measured in 41 patients with hereditary chorio-retinal degenerations including 26 with retinitis pigmentosa and five with gyrate atrophy of the choroid, six relatives of patients with gyrate atrophy, and 13 normal subjects. Patients with gyrate atrophy had very increased levels of ornithine and slightly decreased mean lysine values. Most relatives had slightly increased ornithine. Taurine, known to be deficient in the plasma of casein-fed cats with photoreceptor degeneration, was normal in all patients. Amino-acid precursors and metabolites of ornithine and taurine were also normal in the plasma. Although the association of high ornithine and gyrate atrophy appears constant, high levels of ornithine alone do not necessarily lead to this degeneration; one patient with known hyperammonaemia, homocitrullinuria and a tenfold increase in plasma ornithine was found to have a normal fundus appearance and normal electroretinogram.

A neuropsychological study of panic disorder: negative findings.

BACKGROUND: Gray (1982) proposed that the septo-hippocampal system, which plays an important role in learning and memory, may partially mediate anxiety. Thus, patients with anxiety disorders may manifest neurocognitive performance deficits. We hypothesized that patients with panic disorder would demonstrate learning and memory deficits relative to normal comparison subjects. METHOD: Comprehensive neuropsychological batteries were administered to 69 panic disorder subjects and 19 normal volunteers. RESULTS: There were no significant group differences in any neuropsychological performance domain including learning, memory, attention, visuospatial functioning, and psychomotor speed. Multiple regression conducted to evaluate the contribution of clinical symptoms to neuropsychological impairment within the panic disorder sample revealed that anxiety severity did not affect neuropsychological test performance. LIMITATIONS: Most patients had mild or moderate, rather than severe, panic disorder. CONCLUSION: Neuropsychological dysfunction was not associated with panic disorder.

Quality of well being in panic disorder: the assessment of psychiatric and general disability.

BACKGROUND: Panic disorder is a common and debilitating anxiety disorder which significantly disrupts the lives of patients and their family members. Recent epidemiological studies and analyses of data from clinical trials suggest that patients with panic disorder suffer significant work and social dysfunction. The authors hypothesized that this dysfunction could be characterized using both a well-validated, generalized scale of functioning and a specifically designed scale for assessing function in psychiatric patients and that these findings would correlate with symptomatology. METHOD: Fifty-six patients with panic disorder were characterized using the Sheehan Disability Scale, the Anxiety Sensitivity Index, and the Spielberger State Trait Anxiety Scale. Measures of health related quality of life from the Quality of Well Being Scale were compared with ratings for matched, historical, and population controls. RESULTS: Patients with panic disorder lost 39 quality-adjusted days for each year that they lived with the disorder. This decrease in quality of life is similar to what is observed in patients with non-insulin dependent diabetes. Diminished quality of life is correlated with the number of panic attacks, state anxiety, and depressive symptoms. These patients also demonstrated significant dysfunction in Sheehan total disability and subscale scores, including work-related functioning. CONCLUSIONS: This study demonstrates that the specific disabilities inherent in panic disorder can be linked to declines in quality of life as measured by the Quality of Well Being Scale and by measures of work-related dysfunction. Such an association between disease specific measures and a generalized measure of health related quality of life may offer clinicians a new tool to understand panic disorder and to conceptualize it within the broader context of disease and disability.

CT diagnosis of non-traumatic subarachnoid haemorrhage in patients with brain edema.

The aim of the study is to prove, retrospectively, that it is unlikely that the computerized tomography (CT) diagnosis of subarachnoid haemorrhage (SH) accompanies the CT diagnosis of generalized brain edema. A total of 100 comatose patients underwent CT of the brain. Of this number, 42 underwent an enhanced CT scan. In 26 patients, lumbar puncture was also performed. A control group of ten patients diagnosed with headache and having a normal CT scan underwent NECT and ECT. Measurements of the white and gray matter density in Hounsfield units (HU) were performed in all 110 cases, including the controls. The brain tissue density and the difference between the densities of the white and gray matter were lower in the cases with brain edema than in the controls. The data values were statistically significant. Small cerebral ventricles, sulci and cisterns and small differences between white and gray matter measurements were observed in the CT scans of the brain edema cases. All 100 patients had CT diagnosis of brain edema and SH. There was no bloody or xanthochromic CSF in any of the 26 lumbar punctures performed. In the enhanced CT scans, there was poor or no filling of the lateral sinuses. The compression of the lateral sinuses by the edematous brain tissue most probably results in their stenosis or obstruction due to disturbed brain venous drainage which can mimic CT findings of SH.

Unenhanced spiral CT for the assessment of renal colic. How does limiting the referral base affect the discovery of additional findings not related to urinary tract calculi?

The value of unenhanced spiral CT (UESCT) for investigating acute flank pain suggestive of urinary tract calculi is increasingly appreciated in the last few years. Recent studies have identified the advantages of UESCT in recognizing alternative findings within or outside the urinary tract. We sought to determine how narrowing the referral base for the UESCT would affect the discovery of potentially significant alternative findings in patients with acute flank pain suggestive of renal colic. Between January 1999 and December 1999, 425 patients, 271 (63.8%) men and 154 (36.2%) women who were 1-90 years old (mean 45.7 years old) with acute flank pain were studied with UESCT. CT studies were solely ordered by urologists, and only patients with intractable renal colic or patients that returned more than once to the emergency room with the complaint of acute flank pain were studied. A calculus within the ureter was diagnostic of an obstructive stone. Any other abnormality within the abdomen and pelvis was reported. A ureteral calculus was detected on 251 (59%) CT scans. Nineteen (4.5%) CT scans were consistent with recent excretion of a stone. In 112 (26.3%) CT scans, the cause for the patient's acute flank pain could not be explained. Forty-three (10.1%) alternative significant diagnoses that explain the patient's complaints were found. Nineteen (44%) were findings related to the urinary tract, and 24 (56%) were not related to the urinary tract. Ninety-seven (22.3%) additional findings not significant to the patient's current complaint were also reported. Even when narrowing the indications for the UESCT, about 10% of significant alternative findings to urinary stones were encountered. The variety of diagnoses found unexpectedly on the UESCT that alter a patient's management demonstrates the pivotal role of UESCT in triaging these patients rapidly towards optimal therapy. The UESCT can be used as a useful screening tool, sometimes revealing the exact pathology and sometimes directing the radiologist to the modality by which to continue.

[Benign fibrolipomyomatous tumor of the perinephric capsule. A report on one case]. / Les tumerus fibro-lipo-myomateuses bénignes de la capsule rénale. Une observation.

The authors describe a case of perinephric capsule tumor and emphasize the difficult in establishing diagnosis by radiological and especially angiographic investigations. The exact nature of the tumor can be determined only by histological examination. They review the published literature which demonstrates the rare nature of capsular fibrolipomyomata having clinical manifestations, the difficulty in making a differential diagnosis from hamartoma, and the possibility of malignant changes occurring in the tumor.

Prescribed and self-medication use increase delays in diagnosis of tuberculosis in the country of Georgia.

SETTING: Georgia has a high burden of tuberculosis (TB), including multidrug-resistant TB. Enhancing early diagnosis of TB is a priority to reduce transmission. OBJECTIVE: To quantify delays in TB diagnosis and identify risk factors for delay in the country of Georgia. DESIGN: In a cross-sectional study, persons with newly diagnosed, culture-confirmed pulmonary TB were interviewed within 2 months of diagnosis and medical and laboratory records were abstracted. RESULTS: Among 247 persons enrolled, the mean and median total TB diagnostic delay was respectively 89.9 and 59.5 days. The mean and median patient delay was 56.2 and 23.5 days, while health care system delay was 33.7 and 14.0 days. In multivariable analysis, receipt of a medication prior to TB diagnosis was associated with increased overall diagnostic delay (adjusted odds ratio [aOR] 2.28, 95%CI 1.09-4.79); antibiotic use prior to diagnosis increased the risk of prolonged health care delay (aOR 4.16, 95%CI 1.97-8.79). TB cases who had increased patient-related diagnostic delay were less likely to have prolonged health care diagnostic delay (aOR 0.38, 95%CI 0.19-0.74). CONCLUSION: Prolonged delays in detecting TB are common in Georgia. Interventions addressing the misuse of antibiotics and targeting groups at risk for prolonged delay are warranted to reduce diagnostic delays and enhance TB control.