Neurodevelopmental Disorder Caused by Deletion of , a lncRNA Gene.

encodes a human long noncoding RNA (lncRNA) adjacent to , a coding gene in which de novo loss-of-function variants cause developmental and epileptic encephalopathy. Here, we report our findings in three unrelated children with a syndromic, early-onset neurodevelopmental disorder, each of whom had a de novo deletion in the locus. The children had severe encephalopathy, shared facial dysmorphisms, cortical atrophy, and cerebral hypomyelination - a phenotype that is distinct from the phenotypes of patients with haploinsufficiency.

Applications of Raman spectroscopy in cancer diagnosis.

Novel approaches toward understanding the evolution of disease can lead to the discovery of biomarkers that will enable better management of disease progression and improve prognostic evaluation. Raman spectroscopy is a promising investigative and diagnostic tool that can assist in uncovering the molecular basis of disease and provide objective, quantifiable molecular information for diagnosis and treatment evaluation. This technique probes molecular vibrations/rotations associated with chemical bonds in a sample to obtain information on molecular structure, composition, and intermolecular interactions.

Fostering Strategies to Expand the Consumption of Edible Insects: The Value of a Tripartite Coalition between Academia, Industry, and Government.

Although many insect-based foods are nutritious and often an inexpensive option for human and domesticated animal consumption, there remains a negligible market for such foods in many countries. Several environmental and economic considerations underscore the potential value of insect-based foods, and emerging science suggests that diets incorporating such foods might also convey some genuine health benefits. However, if expanded markets for insect-based foods in cultures naïve to entomophagy are to be pursued, it will be important to develop multifaceted and coordinated strategies to ) delineate authentic health benefits, ) explore means of optimizing insect husbandry and food processing, ) examine cultural barriers to acceptance, ) formulate workable approaches to marketing, and ) address relevant food regulations.

Patterns of hospital admission in 54 501 patients with epistaxis over a 20-year period in Scotland, UK.

Background: Epistaxis affects most people over their lifetime. It is the commonest ear, nose and throat emergency. Hospital admission and socio-economic deprivation have been associated with mental health disorders, respiratory illness and with emergency hospital admissions.

Intraoperative Raman Spectroscopy.

Surgical excision of brain tumors provides a means of cytoreduction and diagnosis while minimizing neurologic deficit and improving overall survival. Despite advances in functional and three-dimensional stereotactic navigation and intraoperative MRI, delineating tissue in real time with physiologic confirmation is challenging. Raman spectroscopy has potential to be an important modality in the intraoperative evaluation of tissue during surgical resection.

Shining light on neurosurgery diagnostics using Raman spectroscopy.

Surgical excision of brain tumors provides a means of cytoreduction and diagnosis while minimizing neurologic deficit and improving overall survival. Despite advances in functional and three-dimensional stereotactic navigation and intraoperative magnetic resonance imaging, delineating tissue in real time with physiological confirmation is challenging. Raman spectroscopy is a promising investigative and diagnostic tool for neurosurgery, which provides rapid, non-destructive molecular characterization in vivo or in vitro for biopsy, margin assessment, or laboratory uses.

London Trauma Conference 2015 : London, UK, 8-11 December 2015.

I1: Trauma, Pre-hospital and Cardiac Arrest Care 2015 Pascale Avery, Leopold Salm, Flora Bird A1: Retrospective evaluation of HEMS ‘Direct to CT’ protocol Anja Hutchinson, Ashley Matthies, Anthony Hudson, Heather Jarman A2 Rush hour – Crush hour: temporal relationship of cyclist vs. HGV trauma admissions. A single site observational study Maria Bergman Nilsson, Tom Konig, Nigel Tai A3 Semiprone position endotracheal intubation during continuous cardiopulmonary resuscitation in drowned children with regurgitation: a case report and experimental manikin study Espen Fevang, Børge Hognestad, Håkon B.

Identification of regions of normal grey matter and white matter from pathologic glioblastoma and necrosis in frozen sections using Raman imaging.

In neurosurgical applications, a tool capable of distinguishing grey matter, white matter, and areas of tumor and/or necrosis in near-real time could greatly aid in tumor resection decision making. Raman spectroscopy is a non-destructive spectroscopic technique which provides molecular information about the tissue under examination based on the vibrational properties of the constituent molecules. With careful measurement and data processing, a spatial step and repeat acquisition of Raman spectra can be used to create Raman images.

Randomised clinical trial of snus versus medicinal nicotine among smokers interested in product switching.

Background: An essential component of evaluating potential modified risk tobacco products is to determine how consumers use the product and resulting effects on biomarkers of toxicant exposure.

Study Design: Cigarette smokers (n=391) recruited in Minnesota and Oregon were randomised to either snus or 4 mg nicotine gum for 12 weeks. Participants were instructed to completely switch from cigarettes to these products.

Oral tobacco products: preference and effects among smokers.

Background: Recently, oral tobacco products have been marketed specifically towards cigarette smokers. These products come in different nicotine doses and formulations (snus vs. lozenge).

Development and parasitism by Aphelinus certus (Hymenoptera: Aphelinidae), a parasitoid of Aphis glycines (Hemiptera: Aphididae).

Since its introduction in 2000, the soybean aphid (Aphis glycines Matsumura) has been a serious pest of soybean in North America. Currently, insecticide application is the only recommended control method. However, a number of natural enemies have the potential to regulate soybean aphid populations.

Computer-based intervention with coaching: an example using the Incredible Years program.

Increases in personal computer ownership and Internet use patterns provide a potential avenue for dissemination of evidence-based prevention and treatment interventions. The authors describe the implementation of a psychoeducational intervention (the Incredible Years parenting program, which is designed to promote behavioral change in parents and children) using a hybrid model combining computer- and web-based delivery with professional intervention via phone calls, electronic messages, and home visits. The model attempted to simulate many of the parent training methods shown to be successful in the original program.

A longitudinal 3-dimensional size and shape comparison of untreated Class I and Class II subjects.

Background: The invention of the Broadbent-Bolton cephalometer in 1925 made possible the collection of 3-dimensional data from biorthogonal plain film head radiographs. The objective of this study was to compare longitudinal changes in the shape and size of craniofacial structures between 16 untreated Class II Division 1 girls and 16 untreated Class I Bolton girls.

Methods: Procrustes analyses were used to compare differences in 30 cephalometric landmarks that were 3-dimensional.

Disparity in orthodontic utilization and treatment need among high school students.

Objectives: The aim of this cross-sectional study was to assess the disparity in utilization of orthodontic services among high school students and to measure and characterize the extent of unmet treatment needs among untreated students at the time of examination.

Methods: The sample consisted of 2,808 tenth grade students enrolled in different public and private high schools. All subjects completed a dental survey that included questions on demographic, dental health, and orthodontic services, and assessment of smile using the visual analog scale.

The brush inquiry: An opportunity to investigate health outcomes in a well-characterized cohort.

The Brush Inquiry was conducted in Cleveland, Ohio, from 1926-1942 to longitudinally document the growth and development of healthy children and adults. The Brush population was a heterogenous group with a broad representation of racial and socioeconomic groups. Data collection included radiographs of several parts of the body; motor, mental, and psychological tests; health, nutrition, and prenatal history; body measurements and family history.

Open to question.

Have trust boards really welcomed the public to their meetings in the new spirit of openness required by Frank Dobson? Former trust non-executive Barbara Broadbent carried out an informal survey in her area.

The demographics of Dr. Geoffrey Walker's cephalometric collection.

The Bolton-Brush Growth Study Center (BBGSC) at Case Western Reserve University recently acquired the radiographic collection of Geoffrey F. Walker, an orthodontist, anthropologist, and pioneer computer expert. Dr.

Cephalometric assessment in obstructive sleep apnea.

It is reported that some specific craniofacial characteristics are associated with obstructive sleep apnea syndrome (OSAS). To test this finding, the present study developed and assessed the feasibility of a craniofacial index score (CIS) in differentiating patients with OSAS from habitual snorers. Anthropometric measurements and lateral head radiographs were obtained on 24 male and 4 female patients with OSAS who had physician-diagnosed OSAS (respiratory disturbance index (RDI) >20), and 25 male and 5 female habitual snorers (RDI <20).

Soft tissue growth of the oropharynx.

The purpose of this study was to describe the pattern of bony and soft tissue growth of the oropharynx in a sample of healthy, orthodontically untreated children. The sample consisted of 16 males and 16 females with lateral cephalograms at 6, 9, 12, 15, and 18 years of age, for a total of 160 lateral cephalometric radiographs. All subjects were enrolled in the Broadbent Bolton Study and their radiographs were used to produce the Bolton Standard Templates.

Changes in soft tissue profile following treatment with the bionator.

The purpose of this study was to determine the changes in the soft tissue profile in patients treated in the mixed dentition with a bionator. Two groups of 30 individuals, between 9 and 12 years old and with Class II, Division 1, malocclusion were matched for age, sex, observation time, and dentofacial characteristics. Patients in the first group were treated with a bionator for an average of 18.

Malocclusion in Labrador Inuit youth: a psychosocial, dental and cephalometric evaluation.

Epidemiological studies of malocclusion of world populations have been previously limited to dental parameters. This cross-sectional study examined the prevalence of malocclusion in the dentitions of Inuit (Eskimo) youth aged between 5-22 years from Labrador, Canada, using psychosocial, dental and skeletal (radiographic) parameters. Data were obtained from two communities, Nain (population 1079) and Hopedale (population 534).

Growth patterns of Labrador Inuit youth: II. Skeletal age.

Few studies have been conducted on skeletal maturity of circumpolar populations despite its importance as background knowledge to orthopedic and orthodontic procedures or for other medical problems involving endocrine disturbances. The purpose of this study was to compare skeletal age with chronological age of Labrador Inuit youth aged between 5-18 years and to compare these results with data from a national survey of United States youth. The sample included 32% (n = 100) of the Inuit youth living in Nain, Labrador, Canada (Male = 41, female = 59).