A 3.2 Mb deletion on 18q12 in a patient with childhood autism and high-grade myopia.

Autism spectrum disorders (ASDs) are a heterogeneous group of disorders with unknown aetiology. Even though ASDs are suggested to be among the most heritable complex disorders, only a few reproducible mutations leading to susceptibility for ASD have been identified. In an attempt to identify ASD susceptibility genes through chromosome rearrangements, we investigated a female patient with childhood autism and high-grade myopia, and an apparently balanced de novo translocation, t(5;18)(q34;q12.

Mammalian and avian neuroanatomy and the question of consciousness in birds.

Some birds display behavior reminiscent of the sophisticated cognition and higher levels of consciousness usually associated with mammals, including the ability to fashion tools and to learn vocal sequences. It is thus important to ask what neuroanatomical attributes these taxonomic classes have in common and whether there are nevertheless significant differences. While the underlying brain structures of birds and mammals are remarkably similar in many respects, including high brain-body ratios and many aspects of brain circuitry, the architectural arrangements of neurons, particularly in the pallium, show marked dissimilarity.

The glass state: characterizing energy landscape features.

We probed the topologies imposed on configuration hyperspace by the potential energy function-the shapes of the constant potential energy manifolds-for the glassy state of monatomic Lennard-Jones matter, by following trajectories of constant potential energy. A prominent characteristic of this model matter is well-defined regions of confinement (pockets) in configuration hyperspace. We found that there are constant potential energy hyperspace paths (tubes) between such pockets, applying even to paths linking glassy regions to crystalline regions of configuration hyperspace.

Mutation screening and association analysis of six candidate genes for autism on chromosome 7q.

Genetic studies have provided evidence for an autism susceptibility locus (AUTS1) on chromosome 7q. Screening for mutations in six genes mapping to 7q, CUTL1, SRPK2, SYPL, LAMB1, NRCAM and PTPRZ1 in 48 unrelated individuals with autism led to the identification of several new coding variants in the genes CUTL1, LAMB1 and PTPRZ1. Analysis of genetic variants provided evidence for association with autism for one of the new missense changes identified in LAMB1; this effect was stronger in a subgroup of affected male sibling pair families, implying a possible specific sex-related effect for this variant.

Cooperation of the basal ganglia, cerebellum, sensory cerebrum and hippocampus: possible implications for cognition, consciousness, intelligence and creativity.

It is suggested that the anatomical structures which mediate consciousness evolved as decisive embellishments to a (non-conscious) design strategy present even in the simplest unicellular organisms. Consciousness is thus not the pinnacle of a hierarchy whose base is the primitive reflex, because reflexes require a nervous system, which the single-celled creature does not possess. By postulating that consciousness is intimately connected to self-paced probing of the environment, also prominent in prokaryotic behavior, one can make mammalian neuroanatomy amenable to dramatically straightforward rationalization.

Protein structures from distance inequalities.

A computer method for folding protein backbones from distance inequalities is presented. It involves an algorithm that uses a novel approach for handling inequalities through the minimization of a continuous energy function. Tests of the folding algorithm have been carried out on a small protein, the 6PTI (bovine pancreatic trypsin inhibitor) with 56 amino acid residues, and on a medium-size protein, the 1TRM (rat trypsin) with 223 amino acid residues.

A model for cortical 40 Hz oscillations invokes inter-area interactions.

Computer simulation of the dynamics of neuronal assemblies within minicolumns, and of the interactions between minicolumns in different cortical areas, has produced a quantitative explanation of the 35-60 Hz oscillations recently observed in adult cat striate cortices. The observed behavior suggests an association mechanism that exploits the NMDA receptor's properties. Detectable oscillations are predicted in cortical areas not directly stimulated, provided these are associatively linked with areas receiving sensory input.

Ruptured tuboovarian abscess in early gestation. A case report.

A woman with a ruptured tuboovarian abscess was treated surgically at nine weeks' gestation. She subsequently had an uneventful pregnancy and delivery.

A novel approach to prediction of the 3-dimensional structures of protein backbones by neural networks.

Three-dimensional structures of protein backbones have been predicted using neural networks. A feed forward neural network was trained on a class of functionally, but not structurally, homologous proteins, using backpropagation learning. The network generated tertiary structure information in the form of binary distance constraints for the C(alpha) atoms in the protein backbone.

Analysis of the secondary structure of the human immunodeficiency virus (HIV) proteins p17, gp120, and gp41 by computer modeling based on neural network methods.

A neural network computer program, trained to predict secondary structure of proteins by exposing it to matching sets of primary and secondary structures from a database, was used to analyze the human immunodeficiency virus (HIV) proteins p17, gp120, and gp41 from their amino acid sequences. The results are compared to those obtained by the Chou-Fasman analysis. Two alpha-helical sequences corresponding to the putative fusigenic domain and to the transmembrane domain of gp41 could be predicted, as well as a possible binding site between p17 and gp41.

Amniotic fluid embolus. A report of two cases resulting in maternal survival.

Two cases of amniotic fluid embolus resulted in patient survival. Both were manifested by fetal bradycardia, respiratory distress and disseminated intravascular coagulopathy. Rapid diagnosis and treatment and anticipation of subsequent events, especially coagulopathy, appear to offer the best chance of a successful outcome.

Protein secondary structure and homology by neural networks. The alpha-helices in rhodopsin.

Neural networks provide a basis for semiempirical studies of pattern matching between the primary and secondary structures of proteins. Networks of the perceptron class have been trained to classify the amino-acid residues into two categories for each of three types of secondary feature: alpha-helix or not, beta-sheet or not, and random coil or not. The explicit prediction for the helices in rhodopsin is compared with both electron microscopy results and those of the Chou-Fasman method.

A reevaluation of placental grading and its clinical significance.

Pregnancies complicated by preeclampsia or intrauterine growth retardation have an earlier and faster placental maturation than normal. This is demonstrated in a study of 1,096 obstetrical examinations of 473 non-diabetic mothers. It is recommended that a pregnancy demonstrating grade I maturational changes prior to 27 weeks, grade II changes prior to 32 weeks, or especially grade III changes prior to 34 weeks be followed clinically and ultrasonically for possible complications.

Acute cardiovascular effects of delta-9-tetrahydrocannabinol in pregnant anesthetized sheep.

The effects of pulmonary artery infusion of delta-9-tetrahydrocannabinol (delta 9-THC), 0.5 mg/kg, have been studied in four pregnant sheep. Cardiac output (CO) decreased from a baseline of 4.