Maturational effects of single and multiple early-life seizures on AMPA receptors in prepubescent hippocampus.

The effects of single versus multiple episodes of status epilepticus on the expression of AMPA receptors during a critical growth spurt are unknown. To determine whether the pattern of hippocampal AMPA receptor subunit expression depends upon the age of the animal, timing and number of perinatal seizures, we characterized maturational changes in AMPA receptor protein levels of the hippocampus with immunohistochemistry and Western blotting in rats of juvenile ages with and without a history of neonatal seizures. Kainic acid (KA) was used to induce a single episode of status epilepticus (1 x KA) in rats on P20 or P30. Animals with a history of multiple seizures (3 x KA) were given KA on P6, P9, and then on P20 or P30. After 1 x KA, in P20 and P30 rats that are preferentially sensitive to CA1 damage, GluR1 immunoreactivity was depleted remarkably in CA1 stratum pyramidale and stratum lucidum and only morphologically healthy cells were faintly labeled. At P30, GluR2 subunit expression was nearly absent in the healthy cells and increased within the injured CA1 neuronal population. Western blot analysis confirmed that the GluR1/GluR2 ratio was decreased at P20 and further decreased at P30. A history of perinatal seizures (3 x KA) prevented the age-dependent alterations in the CA1. Except for areas of cell loss, NR1 and NR2A/B antibody labeling was relatively stable throughout the hippocampus at both ages and conditions examined. Data suggest that (i) Ca2+ permeable AMPA receptors may not be responsible for neuronal injury or irreversible cell loss and that (ii) the expression of AMPA receptors after status epilepticus depends upon the age of the animal, the timing of the first insult and subsequent formation of AMPA receptor subunit compositions within specific populations of hippocampal neurons.

Clinical, genetic and histopathologic findings in two siblings with muscle-eye-brain disease.

PURPOSE: We present the clinical, genetic and histopathologic findings in two siblings with Muscle-Eye-Brain Disease (MEB-D), an autosomal recessive disease characterized by mental retardation, muscular dystrophy, retinal hypoplasia and brain abnormalities. METHODS: Clinical, histopathologic and gene mapping studies of a family with two normal and two children with MEB-D. RESULTS: Two siblings presented in the first few months of life with developmental delay, hypotonia, and strabismus. MRI of the brain showed colpocephaly, pontine and cerebellar atrophy, and diffuse white matter disease. Both patients were blind and had high myopia, strabismus, and retinal and optic nerve abnormalities. The older boy had glaucoma. Both children died from uncontrolled seizures. There was retinal, choroidal and RPE atrophy and optic nerve hypoplasia on ocular histopathology. Both patients shared the same parental haplotypes at the MEB locus on chromosome 1p, while an unaffected sibling did not, indicating possible linkage to the MEB locus. CONCLUSIONS: Patients with MEB-D have severe visual impairment from retinal and optic nerve hypoplasia. High myopia appears to be a consistent finding. The ocular manifestations of MEB-D appear to be distinct from those of patients with Walker-Warburg syndrome.

Onset of oscillopsia after visual maturation in patients with congenital nystagmus.

PURPOSE: To describe the clinical and oculographic characteristics of a cohort of five patients with congenital nystagmus (CN) and late-onset oscillopsia caused by a coincidental decline in other visual and/or ocular motor functions. DESIGN: Retrospective, observational, case series. PARTICIPANTS: Five visually mature patients with CN and recent-onset oscillopsia were evaluated clinically and with motility recordings. INTERVENTION: Eye movement analysis was performed off-line by computer analysis of digitized data. Nystagmus was analyzed for null-zone characteristics, waveforms, frequency, amplitudes, and slow-phase drift velocity during foveation. Surgical and medical treatment of associated ocular conditions in four of five patients. MAIN OUTCOME MEASURES: Presence of symptomatic oscillopsia and average time during foveation periods of slow-phase drift velocity less than 10 degrees /second. RESULTS: One of the five patients had associated rod-cone dystrophy, and another had recurrence of childhood head posturing with return of an eccentric null zone. The remaining three patients had decompensated strabismus associated with their oscillopsia. All five patients complained of oscillopsia in primary position that was relieved in the four who received treatment. Treatment included prismatic correction in one patient and surgery in three. Recordings in primary position after treatment showed increased duration during foveation periods of slow-phase drift velocity less than 10 degrees /second and an overall decreased intensity (amplitude/frequency) of the nystagmus. CONCLUSIONS: Symptomatic oscillopsia in patients with CN is unusual. This visually disturbing symptom can be precipitated by new or changing associated visual sensory conditions (e.g., decompensating strabismus, retinal degeneration). If the associated conditions can be treated, then accompanying oscillopsia may be relieved.

Isolated bilateral anophthalmia in a girl with an apparently balanced de novo translocation: 46,XX,t(3;11)(q27;p11.2).

Primary anophthalmos is a heterogeneous condition. In its nonsyndromal form, it is usually considered an autosomal recessive trait. However, other causes such as chromosomal abnormalities and prenatal insults need to be considered. We report on a unique reciprocal translocation 46,XX,t(3;11)(q27;p11.2) in a baby with isolated anophthalmos. Both Chitayat et al. [1996] and Alvarez Arratia et al. [1984] have reported on cases of terminal deletion of the long arm of chromosome 3. In each case the child had multiple anomalies including microphthalmia or anophthalmia. Because our patient appears to have no other anomalies, this break point may indicate that a genetic locus for eye formation exists at chromosome site 3q27. Published 1999 Wiley-Liss, Inc.

Occupational therapy in acute inpatient psychiatry: an activities health approach.

This article discusses some of the challenges that occupational therapists working in acute psychiatric inpatient settings commonly face. There is often a lack of sufficient time available for treatment as well as limitations inherent in addressing functional problems in the artificiality of a hospital environment. A theoretical framework is introduced from which the role of occupational therapy and realistic objectives for acute short-term care can be identified. This framework for inpatient occupational therapy practice is based on the concept of activities health, which provides a definition of health in functional rather than medical terms. The importance of emphasizing the patient's competence in roles assumed in community living is emphasized. A step-by-step approach to program development with specific examples is also provided.

The effect of physical training on the serum iron levels of college-age women.

Physical training in women has been found to be associated with a significant decrease in serum iron levels suggesting a state of deteriorating iron stores. To further study this phenomenon, seventeen women, aged 19 to 23 years, volunteered to participate in a 10-week physical training program to study the effect of training on serum iron levels. The training consisted of three 20-25 minute exercise bouts per week on a bicycle ergometer with individual workloads equivalent to approximately 70% of each subject's maximum aerobic capacity. Additionally, eight women, aged 19 to 28, volunteered to act as a control group. Assessments of hemoglobin (Hb), hematocrit (Hct), serum iron (SeFe), and maximum oxygen uptake (Vo2 max) were made on both groups prior to and at the conclusion of the training period. Upon completion of training, Vo2 max (ml/kg/min) increased by eleven percent (p less than .05) whereas Gb and Hct showed no significant changes for the trainign group with respect to the control group. Se Fe levels (microgram/100ml) in the training group did not differ significantly from those of the control group in both pre-training (128.8 +/- 7.6 vs 103.7 +/- 13.7, X +/- SE) and post-training (126.6 +/- 7.9 vs. 120.9 +/- 16.3, X +/- SE) conditions. Neither day of menstrual cycle nor use of oral contraceptives nor use of iron supplements was found to have any systematic effect on SeFe levels. The results suggest that short term physical training in college-age women does not significantly lower SeFe levels.