MEF2C Haploinsufficiency features consistent hyperkinesis, variable epilepsy, and has a role in dorsal and ventral neuronal developmental pathways.

MEF2C haploinsufficiency syndrome is an emerging neurodevelopmental disorder associated with intellectual disability, autistic features, epilepsy, and abnormal movements. We report 16 new patients with MEF2C haploinsufficiency, including the oldest reported patient with MEF2C deletion at 5q14.3.

Enhanced proton translocating pyrophosphatase activity improves nitrogen use efficiency in Romaine lettuce.

Plant nitrate (NO3(-)) acquisition depends on the combined activities of root high- and low-affinity NO3(-) transporters and the proton gradient generated by the plasma membrane H(+)-ATPase. These processes are coordinated with photosynthesis and the carbon status of the plant. Here, we present the characterization of romaine lettuce (Lactuca sativa 'Conquistador') plants engineered to overexpress an intragenic gain-of-function allele of the type I proton translocating pyrophosphatase (H(+)-PPase) of Arabidopsis (Arabidopsis thaliana).

Improving Students' Learning With Effective Learning Techniques: Promising Directions From Cognitive and Educational Psychology.

Many students are being left behind by an educational system that some people believe is in crisis. Improving educational outcomes will require efforts on many fronts, but a central premise of this monograph is that one part of a solution involves helping students to better regulate their learning through the use of effective learning techniques. Fortunately, cognitive and educational psychologists have been developing and evaluating easy-to-use learning techniques that could help students achieve their learning goals.

Loss of CDKL5 disrupts kinome profile and event-related potentials leading to autistic-like phenotypes in mice.

Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5) gene have been identified in neurodevelopmental disorders including atypical Rett syndrome (RTT), autism spectrum disorders (ASDs), and early infantile epileptic encephalopathy. The biological function of CDKL5 and its role in the etiology of these disorders, however, remain unclear. Here we report the development of a unique knockout mouse model of CDKL5-related disorders and demonstrate that mice lacking CDKL5 show autistic-like deficits in social interaction, as well as impairments in motor control and fear memory.

Mapping and mining interictal pathological gamma (30-100 Hz) oscillations with clinical intracranial EEG in patients with epilepsy.

Localizing an epileptic network is essential for guiding neurosurgery and antiepileptic medical devices as well as elucidating mechanisms that may explain seizure-generation and epilepsy. There is increasing evidence that pathological oscillations may be specific to diseased networks in patients with epilepsy and that these oscillations may be a key biomarker for generating and indentifying epileptic networks. We present a semi-automated method that detects, maps, and mines pathological gamma (30-100 Hz) oscillations (PGOs) in human epileptic brain to possibly localize epileptic networks.

Alternative pathways of human islet amyloid polypeptide aggregation distinguished by (19)f nuclear magnetic resonance-detected kinetics of monomer consumption.

Amyloid formation, a complex process involving many intermediate states, is proposed to be the driving force for amyloid-related toxicity in common degenerative diseases. Unfortunately, the details of this process have been obscured by the limitations in the methods that can follow this reaction in real time. We show that alternative pathways of aggregation can be distinguished by using (19)F nuclear magnetic resonance (NMR) to monitor monomer consumption along with complementary measurements of fibrillogenesis.

Infertility patients' knowledge of the effects of obesity on reproductive health outcomes.

Objective: The objective of the study was to assess the infertility patient knowledge of reproductive outcomes affected by obesity.

Study Design: This was a prospective survey study of 150 female infertility patients in an academic medical center. Subjects were administered the Rapid Estimate of Adult Literacy in Medicine-Short Form and a questionnaire on the health risks of obesity, and investigators obtained height and weight measurements.

Knowledge of obesity and its impact on reproductive health outcomes among urban women.

This prospective survey study assessed the knowledge of reproductive outcomes that are affected by obesity among women in an urban community. A total of 207 women attending a community fair on the south side of Chicago participated in the study. A survey assessing knowledge of BMI and of the effects of obesity on general, cardiometabolic and reproductive health outcomes was administered.

Comparison of the structures and stabilities of coiled-coil proteins containing hexafluoroleucine and t-butylalanine provides insight into the stabilizing effects of highly fluorinated amino acid side-chains.

Highly fluorinated analogs of hydrophobic amino acids are well known to increase the stability of proteins toward thermal unfolding and chemical denaturation, but there is very little data on the structural consequences of fluorination. We have determined the structures and folding energies of three variants of a de novo designed 4-helix bundle protein whose hydrophobic cores contain either hexafluoroleucine (hFLeu) or t-butylalanine (tBAla). Although the buried hydrophobic surface area is the same for all three proteins, the incorporation of tBAla causes a rearrangement of the core packing, resulting in the formation of a destabilizing hydrophobic cavity at the center of the protein.

Memorial consequences of testing school-aged children.

A large literature shows that retrieval practice is a powerful tool for enhancing learning and memory in undergraduates (Roediger & Karpicke, 2006a). Much less work has examined the memorial consequences of testing school-aged children. Our focus is on multiple-choice tests, which are potentially problematic since they minimise retrieval practice and also expose students to errors (the multiple-choice lures).

The PDZ protein discs-large (DLG): the 'Jekyll and Hyde' of the epithelial polarity proteins.

Discs-large (DLG) is a multi-PDZ domain-containing protein that belongs to the family of molecular scaffolding proteins known as membrane guanylate kinases or MAGUKs. DLG is a component of the Scribble polarity complex and genetic analyses of DLG in Drosophila have identified a role for the protein in several key biological processes including the regulation of apico-basal polarity of epithelial cells, as well as other polarity processes such as asymmetric cell division and cell invasion. Disturbance of DLG function leads to uncontrolled epithelial cell proliferation and neoplastic transformation, thereby defining DLG as a potential tumour suppressor.

Influence of fluorination on the thermodynamics of protein folding.

The introduction of highly fluorinated analogues of hydrophobic amino acid residues into proteins has proved an effective and general strategy for increasing protein stability toward both chemical denaturants and heat. However, the thermodynamic basis for this stabilizing effect, whether enthalpic or entropic in nature, has not been extensively investigated. Here we describe studies in which the values of ΔH°, ΔS°, and ΔCp° have been determined for the unfolding of a series of 12 small, de novo-designed proteins in which the hydrophobic core is packed with various combinations of fluorinated and non-fluorinated amino acid residues.

Diagnosing CNS vasculitis: the case against empiric treatment.

Introduction: Primary central nervous system vasculitis (PCNSV) is a rare inflammatory arteriopathy confined to the brain, spinal cord, and leptomeninges. Because of its nonspecific presentation and difficulties in making a positive diagnosis, empiric treatment is often instituted.

Case Series: We report a case series of 5 patients who were admitted or transferred to the Johns Hopkins Hospital with a clinical history and magnetic resonance imaging findings suggestive of PCNSV.

Delayed myelination in an intrauterine growth retardation model is mediated by oxidative stress upregulating bone morphogenetic protein 4.

Intrauterine growth retardation (IUGR) is associated with neurological deficits including cerebral palsy and cognitive and behavioral disabilities. The pathogenesis involves oxidative stress that leads to periventricular white matter injury with a paucity of mature oligodendrocytes and hypomyelination. The molecular mechanisms underlying this damage remain poorly understood.

Using verification feedback to correct errors made on a multiple-choice test.

A key educational challenge is how to correct students' errors and misconceptions so that they do not persist. Simply labelling an answer as correct or incorrect on a short-answer test (verification feedback) does not improve performance on later tests; error correction requires receiving answer feedback. We explored the generality of this conclusion and whether the effectiveness of verification feedback depends on the type of test with which it is paired.

Inferring facts from fiction: reading correct and incorrect information affects memory for related information.

People can acquire both true and false knowledge about the world from fictional stories. The present study explored whether the benefits and costs of learning about the world from fictional stories extend beyond memory for directly stated pieces of information. Of interest was whether readers would use correct and incorrect story references to make deductive inferences about related information in the story, and then integrate those inferences into their knowledge bases.

Creating illusions of knowledge: learning errors that contradict prior knowledge.

Most people know that the Pacific is the largest ocean on Earth and that Edison invented the light bulb. Our question is whether this knowledge is stable, or if people will incorporate errors into their knowledge bases, even if they have the correct knowledge stored in memory. To test this, we asked participants general-knowledge questions 2 weeks before they read stories that contained errors (e.

Adenosylcobalamin enzymes: theory and experiment begin to converge.

Adenosylcobalamin (coenzyme B(12)) serves as the cofactor for a group of enzymes that catalyze unusual rearrangement or elimination reactions. The role of the cofactor as the initiator of reactive free radicals needed for these reactions is well established. Less clear is how these enzymes activate the coenzyme towards homolysis and control the radicals once generated.

Structural basis for the enhanced stability of highly fluorinated proteins.

Noncanonical amino acids have proved extremely useful for modifying the properties of proteins. Among them, extensively fluorinated (fluorous) amino acids seem particularly effective in increasing protein stability; however, in the absence of structural data, the basis of this stabilizing effect remains poorly understood. To address this problem, we solved X-ray structures for three small proteins with hydrophobic cores that are packed with either fluorocarbon or hydrocarbon side chains and compared their stabilities.

Reversible paraneoplastic encephalitis in three patients with ovarian neoplasms.

Anti-N-methyl-d-aspartate (NMDA) receptor encephalitis is a recently described potentially lethal but treatable disorder that often occurs as a paraneoplastic manifestation of ovarian teratomas. We report three women with this disorder who presented with subacute onset of delirium, seizures and autonomic instability. Anti-NMDA receptor antibodies were detectable in the serum or cerebrospinal fluid of each patient.

Aging and the memorial consequences of catching contradictions with prior knowledge.

This experiment tested the possibility that older adults are less susceptible to semantic illusions because they are more likely to notice contradictions with stored knowledge. Older and young adults encoded stories containing factual inaccuracies; critically, half the participants were instructed to mark any errors they noticed. Older adults reproduced fewer story-errors on a later general knowledge test, but there were no age differences in marking errors during encoding.

Caenorhabditis elegans, a model organism for investigating immunity.

The nematode Caenorhabditis elegans has been a powerful experimental organism for almost half a century. Over the past 10 years, researchers have begun to exploit the power of C. elegans to investigate the biology of a number of human pathogens.