A King’s Secret: The Reason for Regression in a 14-Month-Old Male

A 14-month-old male with constipation and a recent viral exanthem presents with 8 weeks of progressive gross motor regression. He no longer walks, crawls, or sits unassisted. No loss of social, speech, or fine motor milestones. No fever, rash, cough, congestion, or diarrhea. No known trauma. Family history negative for muscle, nerve, autoimmune, and developmental conditions. He was born abroad and lived on a dairy farm in New Zealand until 5 months ago. Vaccines up to date. Recently exposed to raw honey and a petting zoo. Neurologic and musculoskeletal exams pertinent for refusal to bear weight or crawl. Resists sitting as well as flexion or extension of hips. Moves all extremities purposefully and spontaneously. Rolls over in both directions. Head lag present. Achilles reflexes 1+ bilaterally. No eyelid drooping, facial asymmetry, or trouble swallowing. Exam was otherwise unremarkable. CBC and iron studies revealed microcytic iron deficiency anemia, thyroid studies showed subclinical hypothyroidism, and mild elevation of CRP and ESR present. Screening metabolic and leukodystrophy workup unremarkable. MRI brain with bilateral confluent T2 signal hypersensitivity in the periventricular white matter. MRI spine notable for destruction of the L2-L3 disc with 4mm fluid collection within the disc space consistent with spondylodiscitis. Interventional radiology performed disc space aspiration and bone biopsy for culture. Empiric IV cefazolin initiated. Biopsy culture returned positive for Kingella kingae, sensitive to cefazolin. His imaging and culture findings were consistent with a diagnosis of L2-L3 spondylodiscitis. He completed 6 weeks of IV antibiotics. Repeat MRI showed significant improvement with near complete resolution. With ongoing physical therapy he is now crawling, cruising, and sitting with improving endurance. Spondylodiscitis encompasses both infectious discitis and vertebral osteomyelitis. Common presenting symptoms include back pain, limp, fever, irritability, and refusal to walk. Diagnosis is often delayed in children because of the rarity (estimated 2-4 cases per 1,000,000 per year), but also complicated because of poorly defined manifestations in children who are often not able to vocalize symptoms, requiring a high index of suspicion. The most common pathogen is Staphylococcus aureus, however there has been an increase in Kingella kingae reported in recent literature that must be considered when choosing empiric therapy.https://digitalcommons.unmc.edu/chri_forum/1055/thumbnail.jp

Analysing Recent Socioeconomic Trends in Coronary Heart Disease Mortality in England, 2000–2007: A Population Modelling Study

A modeling study conducted by Madhavi Bajekal and colleagues estimates the extent to which specific risk factors and changes in uptake of treatment contributed to the declines in coronary heart disease mortality in England between 2000 and 2007, across and within socioeconomic groups

The genetic architecture of the human cerebral cortex

The cerebral cortex underlies our complex cognitive capabilities, yet little is known about the specific genetic loci that influence human cortical structure. To identify genetic variants that affect cortical structure, we conducted a genome-wide association meta-analysis of brain magnetic resonance imaging data from 51,665 individuals. We analyzed the surface area and average thickness of the whole cortex and 34 regions with known functional specializations. We identified 199 significant loci and found significant enrichment for loci influencing total surface area within regulatory elements that are active during prenatal cortical development, supporting the radial unit hypothesis. Loci that affect regional surface area cluster near genes in Wnt signaling pathways, which influence progenitor expansion and areal identity. Variation in cortical structure is genetically correlated with cognitive function, Parkinson's disease, insomnia, depression, neuroticism, and attention deficit hyperactivity disorder

Persistent socioeconomic inequalities in cardiovascular risk factors in England over 1994-2008: a time-trend analysis of repeated cross-sectional data

Our aims were to determine the pace of change in cardiovascular risk factors by age, gender and socioeconomic groups from 1994 to 2008, and quantify the magnitude, direction and change in absolute and relative inequalities

Genome-wide structural variant analysis identifies risk loci for non-Alzheimer’s dementias

We characterized the role of structural variants, a largely unexplored type of genetic variation, in two non-Alzheimer’s dementias, namely Lewy body dementia (LBD) and frontotemporal dementia (FTD)/amyotrophic lateral sclerosis (ALS). To do this, we applied an advanced structural variant calling pipeline (GATK-SV) to short-read whole-genome sequence data from 5,213 European-ancestry cases and 4,132 controls. We discovered, replicated, and validated a deletion in TPCN1 as a novel risk locus for LBD and detected the known structural variants at the C9orf72 and MAPT loci as associated with FTD/ALS. We also identified rare pathogenic structural variants in both LBD and FTD/ALS. Finally, we assembled a catalog of structural variants that can be mined for new insights into the pathogenesis of these understudied forms of dementia

ABSTRACT Computational Law

Computational law is an approach to automated legal reasoning focusing on semantically rich laws, regulations, contract terms, and business rules in the context of electronicallymediated actions. Current computational tools for electronic commerce fall short of the demands of business, organizations, and individuals conducting complex transactions over the web. However, the growth of semantic data in the world of electronic commerce and online transactions, coupled with grounded rulesets that explicitly reference that data, provides a setting where applying automated reasoning to law can yield fruitful results, reducing inefficiencies, enabling transactions and empowering individuals with knowledge of how laws affect their behavior

General game playing: Overview of the AAAI competition

A General Game Playing System is one that can accept a formal description of a game and play the game effectively without human intervention. Unlike specialized game players, such as Deep Blue, general game players do not rely on algorithms designed in advance for specific games; and, unlike Deep Blue, they are able to play different kinds of games. In order to promote work in this area, the AAAI is sponsoring an open competition at this summer’s National Conference. This article is an overview of the technical issues and logistics associated with this summer’s competition, as well as the relevance of General Game Playing to the long range goals of artificial intelligence.