Previously apparently undescribed autosomal recessive MCA/MR syndrome with light fixation, retinal cone dystrophy, and seizures: the M syndrome.

We report on two sisters from healthy families with a syndrome of severe developmental delay, ataxia, impaired social interaction, a seizure disorder with early onset but without epileptiform electroencephalogram changes, and a striking light-fixating behavior which was associated with retinal cone dystrophy. Additionally, they have minor anomalies including peripheral iris hypoplasia, bluish sclerae, mild anteversion of nostrils, micrognathia, ear anomalies, broad halluces and thumbs, hypoplastic toenails, short perineal body, "Mongolian spots," mild hirsutism, hypoplastic ridges in the hypothenar area, and distal axial triradii. Growth and general health are normal in both, but one also had tetralogy of Fallot and vesicoureteral reflux. Because this condition appears to be previously undescribed we postulate a new autosomal recessive disorder with light-fixating behavior and retinal cone dystrophy as leading symptom.

A comparison of ciprofloxacin and tobramycin in bacterial conjunctivitis in children.

A study was conducted to determine the safety and efficacy of topically applied ciprofloxacin ophthalmic solution in a pediatric population experiencing acute bacterial conjunctivitis. Topically applied ciprofloxacin (3 mg/mL) is known to be a safe and effective treatment for adults suffering from bacterial conjunctivitis; however, the safety and effectiveness of this broad-spectrum fluoroquinolone in pediatric patients is not well established. Ciprofloxacin was evaluated in a double-blind, randomized, controlled study of 257 patients ranging from 0 (i.e., less than 1 year) to 12 years of age from 33 geographically diverse medical centers. The children received either 0.3% ciprofloxacin ophthalmic solution (Ciloxan, Alcon Laboratories, Fort Worth, TX) or tobramycin ophthalmic solution (Tobrex, Alcon Laboratories, Fort Worth, TX). Both test medications were administered topically every 2 hours on days 1 and 2 followed by every 4 hours on days 3 through 7. Eyes were cultured prior to enrollment and again on day 7. Treatment efficacy as determined by microbiological culture data and physicians' judgment of overall resolution was similar for the ciprofloxacin and tobramycin groups. Microbiological eradication was observed in 90.1% of the ciprofloxacin group and 84.3% of the tobramycin group (P = 0.29). Physicians judged 87.0% of the ciprofloxacin patients and 89.9% of the tobramycin patients clinically cured on day 7 (P > 0.5). There were no serious adverse medical events attributable to either treatment. This study showed that topically applied ciprofloxacin ophthalmic solution is safe and effective in a pediatric population experiencing acute bacterial conjunctivitis.

Children and adolescents with neurofibromatosis 1: a behavioral phenotype.

Twenty 6- to 17-year-old children with neurofibromatosis 1. (NF1) were compared to 20 age- and sex-matched siblings on a wide range of neuropsychological and behavioral dimensions. In familial cases, diagnostic status was confirmed by gene linkage with greater than 98% accuracy. Visual examinations that included assessments of visual evoked responses (VER) were performed on subjects with NF1. Forty-two percent of NF1 subjects had abnormal VER and underwent magnetic resonance imagery or computed tomography scans of the brain. On a variety of skills, subjects with NF1 performed more poorly than unaffected siblings. Children with NF1 were found to be less competent on measures of cognitive, language, and motor development, visual-spatial judgment, visual-motor integration, and academic achievement. Learning disabilities were common in children with NF1. Parents and teachers reported that NF1 subjects had internalizing problems and difficulty interacting with peers. A behavioral phenotype for NF1 and recommendations for preventative interventions are proposed.

Neonatal respiratory distress caused by cryptic dacryoceles.

Two cases of neonatal respiratory distress responded with treatment of bilateral dacryocele. In one case, no visible or palpable external evidence of dacryocele was present until mucopurulent discharge commenced more than a week after birth. While the incidence of typical congenital nasolacrimal duct obstruction is about 6%, dacryocele is 200 times less common.

An unusual case of floppy eyelid syndrome.

A 51-year-old obese man with a history of nocturnal upper eyelid eversion secondary to floppy eyelids presented with a Staphylococcus aureus corneal ulcer. No papillary conjunctivitis was present. The corneal ulcer was treated successfully. This case demonstrates the importance of ruling out spontaneous nocturnal lid eversion as a cause for unexplained ocular surface pathology and emphasizes the fact that the floppy eyelid syndrome may present in the absence of classic papillary conjunctivitis.

The effect of intravitreal botulinum toxin on rabbit visual evoked potential.

Intravitreal injections of botulinum A toxin in two doses, 1.25 and 25 units, were performed in two rabbit eyes. The fellow eyes were injected with an equal volume of saline to serve as controls. The visual evoked potential was unchanged at one and two weeks post-injection when compared to pre-injection recordings in both botulinum and saline injected eyes.

Orbital emphysema as an ophthalmologic emergency.

Orbital emphysema is generally a benign, self-limited condition. However, if a fracture produces a ball-valve effect allowing air to enter but not to leave the orbit, and if the orbital septum remains intact, then extremely high intraorbital pressure and visual loss is possible. Two cases are described of visual loss from orbital emphysema, in a 33-year-old man and a 28-year-old man, which were successfully treated by a lateral canthotomy and cantholysis.

Epidural anesthesia in low-risk obstetrical patients.

The use of epidural anesthesia in obstetrics has increased markedly in the last decade, and some authorities are now stating that epidural block may be the anesthetic method of choice for most women. In spite of this growth in popularity, no studies have been reported that deal with the outcomes of epidural anesthesia in low-risk obstetrical patients, that group of women for whom family physicians are most likely to provide care. A retrospective cohort study of factors associated with epidural anesthesia in a low-risk obstetrical population was performed. Epidural anesthesia was administered by obstetrical anesthesiologists, and patients were monitored by nurses experienced with epidural anesthesia. Although retrospective studies cannot establish cause-and-effect relationships, it was found, when compared with deliveries without epidural anesthesia, that epidural anesthesia deliveries were associated with changes in several parameters of labor and delivery. Although epidural anesthesia was observed to be a very safe procedure, three of the variables (higher use of low forceps, increased use of oxytocin, and greater total costs) may be of some clinical importance and should be considered by both the delivering physician and the patients when choosing obstetrical anesthesia.

The effect of antibiotic additions on the mechanical properties of acrylic cement.

Early work on hip prosthesis showed that the metal component would loosen in bone even when screws were used. This practice resulted in the death and resorption of the bone; thus cement was used in orthopedic surgery for firm implantation of prostheses. In recent years antibiotics have been added to the cement as a prophylaxis against infection. This research investigates the effects of antibiotics on the diametral tensile and compression strength of the cement. Samples made with 2 g of antibiotic per surgical packet of bone cement containing the antibiotics gentamicin, keflin, and a combination of the two were tested. These samples were aged at ambient temperature for periods of 1 day and 1, 2, 8, 13, and over 30 weeks. A stastical analysis using a two-way analysis of variance with interaction was conducted. It was concluded that the compression strength was affected by the antibiotic, and not by the aging period, but that there is an antibiotic-aging period interaction. The tensile strength is not affected by either the antibiotic or the aging period, and there is an antibiotic-aging period interaction. Current work being conducted will analyze additional factors and interactions.