Pyridoxine-dependent epilepsy: A novel mutation in a Tunisian child.

Pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive metabolic disease characterized by seizures in neonates or infants, which is unresponsive to antiepileptic drugs but controlled by pyridoxine. Without prompt treatment, continued seizures and severe encephalopathy result. Mutations in the ALDH7A1 gene encoding α-amino-adipic semialdehyde (α-AASA) dehydrogenase (antiquitin) have been identified as the cause of PDE. We report on a novel ALDH7A1 mutation in a Tunisian child with PDE.

Urinary creatine at rest and after repeated sprints in athletes: a pilot study.

Creatine plays a key role in muscle function and its evaluation is important in athletes. In this study, urinary creatine concentration was measured in order to highlight its possible significance in monitoring sprinters. The study included 51 sprinters and 25 age- and sex-matched untrained subjects as a control group. Body composition was measured and dietary intake estimated. Urine samples were collected before and after standardized physical exercise. Creatine was assessed by gas chromatography mass spectrometry. Basal urinary creatine (UC) was significantly lower in sprinters than controls (34±30 vs. 74±3 µmol/mmol creatinine, p < 0.05). UC was inversely correlated with body mass (r = -0.34, p < 0.01) and lean mass (r = -0.30, p < 0.05), and positively correlated with fat mass (r = 0.32, p < 0.05). After acute exercise, urinary creatine significantly decreased in both athletes and controls. UC is low in sprinters at rest and further decreases after exercise, most likely due to a high uptake and use of creatine by muscles, as muscle mass and physical activity are supposed to be greater in athletes than untrained subjects. Further studies are needed to test the value of urinary creatine as a non-invasive marker of physical condition and as a parameter for managing Cr supplementation in athletes.

Prenatal diagnosis of idiopathic infantile arterial calcification with hydrops fetalis.

Idiopathic infantile arterial calcification (IIAC) is a rare and nearly always fatal disorder. To date, prenatal diagnosis has been reported in fewer than 10 cases. We describe a series of three cases in which the diagnosis of IIAC was made at 23, 25 and 29 weeks' gestation. All three cases presented with a normal anatomy scan at 20 weeks' gestation with an echogenic intracardiac focus. Follow-up scans showed generalized hyperechogenicity and calcification of the walls of the large arteries, particularly the aorta and the iliac arteries. All cases developed hydrops fetalis with cardiomegaly and polyhydramnios later in gestation, resulting in intrauterine fetal death in two cases and neonatal death immediately following delivery in the third. This is the largest case series and the earliest gestational age of prenatal diagnosis of IIAC reported to date. When surveying for the disease, serial scans are important, perhaps from 20 weeks' gestation, with close examination of the iliac and aortic arteries. Detection of echogenic intracardiac focus could be an early marker in patients with a family history of the disease.

Influence of physicochemical reactions of bioactive glass on the behavior and activity of human osteoblasts in vitro.

Bioactive glasses are characterized by a bond to bone with a hydroxyl carbonate apatite layer. They enhance bone tissue formation and for this purpose are used in orthopedic surgery and in dental implantology. In the current work, we studied the biological response of human osteoblasts with a bioactive glass. This bioactive glass is based on 50% Si0(2), 20% Na(2)O, 16% CaO, 6% P(2)O(5), 5% K(2)0, 2% Al(2)O(3) and 1% MgO and designated A9. Cracks and irregularities were observed on the material surface when it was immersed in the culture medium. In addition, energy dispersive X-ray analyses highlighted a selective release of the elements at the surface of the bioactive glass, such as Na(+) and K(+) ions, released from the first day, contrary to the Si, Al, Ca, P, and Mg elements, which were released more slowly. Cell proliferation kinetics, total protein synthesis, and DNA content of the osteoblasts in contact with bioactive glass were similar to control cells. The morphological studies by light and scanning electron microscopy revealed an increasing cellular density in culture with bioactive glass without contact inhibition. The immunohistochemical studies highlighted the expression of types I, III, and V collagens by osteoblasts cultured in the presence of bioactive glass. The pH measurement of the culture medium in the presence of bioactive glass demonstrated a slight alkalinization. We thus conclude that human osteoblasts preserve their properties in the presence of bioactive glass (A9).

Status of pediatric perfusion education: 2000 survey.

In recent years, studies have raised questions about pediatric perfusion training, minimum proficiency requirements, and specialization. To understand these questions better, a survey was undertaken to investigate the status of pediatric/neonatal perfusion training in the United States. Three groups were surveyed: program directors (PD), recent graduates of perfusion programs (RG), and pediatric cardiac anesthesiologists (PCA). Program directors and recent graduates were queried about didactic curriculum and clinical experiences. All three groups were asked core questions regarding minimum proficiency, specialization, and need for a postgraduate style program. Didactically, 65% of program directors believed that perfusion programs provided a solid introductory knowledge base in infant perfusion. Clinically, students performed an average of 124 +/- 42.5 adult and 17 +/- 12.9 pediatric cases during their education. Program directors cited numerous limitations to clinical pediatric education, including access to pediatric cases and allocation of resources. The PD (69%) and RG (96%) both believed graduates were less prepared to perform infant/pediatric cardio-pulmonary bypass (CPB) at graduation as compared to adult CPB. The opinions of all three groups were divided when asked whether the essentials and guidelines requirement for minimum pediatric caseload is too low (yes response: PD 52%, RG 73%, PCA 47%). The PD and RG were against pediatric subspecialization/certification (87%, 57% respectively); whereas, the PCA were unanimously in favor (100%) of pediatric subspecialization/certification for perfusionist. All three groups felt a postgraduate-style program in infant perfusion would benefit the community (78%, 82%, 100%). Finally, 64% of RG said that, if available, they would have considered entering a training program in pediatric/neonatal perfusion after graduation. Our results indicate that there are still limitations to pediatric perfusion education. A postgraduate-style program in infant perfusion is one possible solution to this problem.

Recurrent enterococcal endophthalmitis following cataract surgery: a case report.

Recurrent post-cataract endophthalmitis is a well-recognized postoperative complication that has been attributed to various organisms and different mechanisms. To our knowledge, there is no case of recurrent postoperative endophthalmitis reported where the organism was found to be sequestered in the posterior capsule, escaping total eradication and thus producing the recurrence. The following is a case report of such recurrent postoperative endophthalmitis caused by Enterococcus faecalis sequestered in the posterior capsule.

Treatment of outer retinal necrosis in AIDS patients.

We report a patient with AIDS who developed rapidly progressive, acute outer retinal necrosis. Cytomegalovirus etiology was proposed as a possibility in view of the histopathologic identification of the virus in the fellow concomitantly affected eye. Treatment with ganciclovir resulted in disappearance of the posterior pole lesions and inactivation of the peripheral lesions. We suggest that ganciclovir be used as soon as this condition is suspected in order to optimize the outcome.

Inactive subretinal neovascularization in age-related macular degeneration.

Inactive subretinal new vessels (SRNVs), showing minimal leakage by fluorescein angiography and little progression, were observed in 15 eyes of 12 patients with age-related macular degeneration. In 8 (57%) of 14 eyes followed for longer than 6 months, the new vessels involuted and produced circumscribed areas of retinal pigment epithelium and choriocapillaris atrophy; 6 (43%) showed a further decrease in the fluorescein leakage during the follow-up period (average, 30.1 months). None of the new vessels organized into an exudative fibrovascular scar. Visual acuity was improved or unchanged during the entire follow-up period in 12 (86%) eyes and deteriorated in 2 (14%). Nine patients (75%) were 80 years of age or older; three (25%) were between 65 and 70 years of age. These observations suggested that SRNV showing minimal fluorescein leakage, particularly when it occurs in patients older than 80 years, do not require photocoagulation because they are usually self-limited.

Importance of the vitreous in young diabetics with macular edema.

The authors assessed retrospectively the clinical records of 80 patients (137 eyes) with diabetic retinopathy who were 50 years of age or younger and who had undergone a vitreous examination. The group comprised 53 patients (91 eyes) with macular edema and 27 patients (46 eyes) without macular edema. Vitreous studies using the El Bayadi-Kajiura lens determined whether the posterior vitreous was attached to the retina in the macula. Forty (42.1%) of 91 eyes in the edema group and none (0%) of the 46 eyes in the nonedema group had a detached posterior vitreous. This difference was statistically significant, indicating that young diabetic patients with macular edema have a significantly higher rate of posterior vitreous detachment than those without macular edema.

Association between cilioretinal arteries and juxtapapillary scars.

We examined the relationship of cilioretinal arteries (CRAs) to juxtapapillary chorioretinal scars, along with the developmental significance of the latter in relation to CRA formation. Both eyes of 360 patients were studied. Sixty-eight (18.9%) of these patients had a CRA in at least one eye, 13 of these 68 (19.1%) had one in both. The CRAs were distributed equally between right and left eyes. Two hundred eight patients (57.8%) had a scar in at least one eye; 157 of these (75.5%) had one in both. The presence of a CRA was significantly associated with the presence of a scar. Since both are common developmental variations, this correlation points to a common embryologic formation mechanism.

Photocoagulation of chorioretinal anastomoses in far-advanced age-related macular degeneration.

In age-related macular degeneration, communication between the retinal and choroidal circulations occurs spontaneously or following unsuccessful laser photocoagulation of subretinal new vessels. The resulting chorioretinal anastomotic complex, which includes the subretinal new vessels and their feeder retinal vessels, usually shows marked exudation and produces an extensive serous detachment of the neurosensory retina in the posterior pole, often associated with hard exudates. Eleven eyes with chorioretinal anastomotic complexes were treated using the monochromatic green argon laser. Adequate closure of the chorioretinal anastomotic complexes by photocoagulation resulted in retinal flattening in the posterior pole with resolution of the hard exudates and improvement of vision in eight of the 11 treated eyes.

Argon green laser treatment of peripapillary choroidal neovascular membranes.

Of 27 eyes with peripapillary choroidal neovascular membranes (PPCNM), 17 (63%) had age-related macular degeneration and ten (37%) were idiopathic. PPCNM were treated in 25 eyes using the monochromatic green argon laser. Two eyes were untreatable. After an average follow-up of 37.7 months, successful closure of the choroidal new vessels was obtained in 23 eyes (92%), and visual acuity was stabilized or improved in 20 (80%). Seven eyes (28%) had recurrences; in four, the new vessels extended into the macula. Post-treatment, three eyes ultimately had dry macular scars, and one had an exudative macular scar. Of these four eyes, only the one with a dry macular scar showed visual improvement. No treated cases showed arcuate scotoma.

Subretinal hemorrhage in atrophic age-related macular degeneration.

In eight eyes of eight patients we retrospectively studied the outcome of subretinal hemorrhage occurring in areas of atrophy of retinal pigment epithelium and choriocapillaris secondary to age-related macular degeneration. These patients were followed up for one to 20 months after the initial appearance of the hemorrhage. No subretinal new vessels were associated with these hemorrhages, which resolved over one to 15 months. Our findings indicated that hemorrhages occurring within areas of atrophy are not necessarily associated with subretinal new vessels, and that this type of hemorrhage has a good prognosis for resolution.

Visual results with low-vision aids in age-related macular degeneration.

We reviewed the records of 61 patients with age-related macular degeneration who had an exudative or a dry macular scar and who had received low-vision rehabilitation. Exudative scars resulted from the natural course of sub-retinal new vessels, and dry scars from successful photocoagulation to the new vessels. Low-vision aids consisted of high-power positive lenses. Eyes were divided into three groups according to their distance visual acuity before using low-vision aids: Group 1, 20/100; Group 2, 20/200 to 20/300; and Group 3, 20/400 or poorer. The print size resolution on the Rosenbaum pocket vision screener and power of the low-vision aid in each group were compared for the eyes having exudative scars and those with dry photocoagulation scars. In Groups 2 and 3, eyes with dry macular scars reached a similar resolution of print size but with significantly (P less than .01) lower-power visual aids than eyes with exudative macular scars. In Group 1, eyes with dry macular scars achieved a better print size resolution using significantly (P less than .01) lower-power visual aids than eyes with exudative scars.

The role of the vitreous in diabetic macular edema.

The authors assessed retrospectively clinical records of 76 patients (125 eyes) 60 years of age or older with diabetic retinopathy who had undergone a vitreous examination. The groups consisted of 105 eyes (63 patients) with macular edema and 20 eyes (13 patients) without macular edema. Vitreous studies were done using the El Bayadi-Kajiura lens to determine whether or not the posterior vitreous was attached to the retina in the macula. Twenty-one of 105 eyes (20.0%) in the edema group and 11 of 20 eyes (55.0%) in the no-edema group had a detached posterior vitreous. This difference was found to be statistically significant, indicating that diabetic cases without macular edema have a significantly higher rate of posterior vitreous detachment than those with macular edema. This study demonstrates that the vitreous may play a role in diabetic macular edema.

Treatment of small choroidal melanomas with photocoagulation.

Seventeen eyes with small choroidal melanomas presumed to be malignant were photocoagulated. The melanomas measured 7 to 15 mm at the tumor base and 2 t0 5 mm thick. First, photocoagulation using the green argon laser was aimed at closing the choroidal vascular supply of the tumor. In a second stage, tumor tissue was destroyed using the red krypton laser for confluent burns of long duration. Such treatment was supplemented by cryotherapy in peripherally located tumors or whenever photocoagulation alone did not result in tumor regression. Photocoagulation alone was used in ten eyes and combined wih cryotherapy in seven. After an average follow-up of 42 months, marked tumor regression was achieved in 12 eyes and some tumor regression in two. Tow eyes ultimately required proton beam irradiation, and one eye was enucleated. No metastasis occurred during follow-up.