Δευτέρα, 14 Νοεμβρίου 2016

Development: Sonic snakes and regulation of limb formation

Evolutionary limb loss is a fundamental and overt change in body plan, but the underlying molecular causes have remained debated and largely elusive. Two new studies pinpoint enhancer alterations associated with limb loss during snake evolution.Mechanisms of major morphological transitions have been challenging to

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A New Chicken Genome Assembly Provides Insight into Avian Genome Structure

The importance of the Gallus gallus (chicken) as a model organism and agricultural animal merits a continuation of sequence assembly improvement efforts. We present a new version of the chicken genome assembly (Gallus_gallus-5.0; GCA_000002315.3) built from combined long single molecule sequencing technology, finished BACs, and improved physical maps. In overall assembled bases, we see a gain of 183 Mb including 16.4 Mb in placed chromosomes with a corresponding gain in the percentage of intact repeat elements characterized. Of the 1.21 Gb genome, we include three previously missing autosomes, GGA30, 31 and 33 and improve sequence contig length 10-fold over the previous Gallus_gallus-4.0. Despite the significant base representation improvements made, 138 Mb of sequence is not yet located to chromosomes. Gallus_gallus-5.0 when annotated for gene content shows an increase of 4,679 annotated genes, 2,768 non-coding and 1,911 protein-coding, over those in Gallus_gallus-4.0. We also revisited the question of what genes are missing in the avian lineage, as assessed by the highest quality avian genome assembly to date, and found that a large fraction of the original set of missing genes are still absent in sequenced bird species. Finally, our new data support a detailed map of MHC-B encompassing two segments; one with a highly stable gene copy number and another in which the gene copy number is highly variable. The chicken model has been a critical resource for many other fields of study, and this new reference assembly will substantially further these efforts.



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Analysis of Ribosome-Associated mRNAs in Rice Reveals the Importance of Transcript Size and GC Content in Translation

Gene expression is controlled at transcriptional and post-transcriptional levels including decoding of mRNA into polypeptides via ribosome-mediated translation. Translational regulation has been intensively studied in the model dicot plant Arabidopsis thaliana, and in this study, we assessed the translational status (proportion of steady-state mRNA associated with ribosomes) of mRNAs by Translating Ribosome Affinity Purification followed by mRNA-sequencing (TRAP-seq) in rice (Oryza sativa), a model monocot plant and the most important food crop. A survey of three tissues found that most transcribed rice genes are translated whereas few transposable elements are associated with ribosomes. Genes with short and GC-rich coding regions are over-represented in ribosome-associated mRNAs, suggesting that the GC-richness characteristic of coding sequences in grasses may be an adaptation that favors efficient translation. Transcripts with retained introns and extended 5' untranslated regions are under-represented on ribosomes, and rice genes belonging to different evolutionary lineages exhibited differential enrichment on the ribosomes which was associated with GC content. Genes involved in photosynthesis and stress responses are preferentially associated with ribosomes, whereas genes in epigenetic regulation pathways are the least enriched on ribosomes. Such variation is more dramatic in rice than that in Arabidopsis and is correlated with the wide variation of GC content of transcripts in rice. Taken together, variation in translation status of individual transcripts reflects important mechanisms of gene regulation, which may have a role in evolution and diversification.



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A Study on Cardiovascular Manifestation in Leptospirosis Cases in A Tertiary Care Hospital of Surat City

2016-11-14T16-26-55Z
Source: National Journal of Medical Research
Prakash T Chand, Vivek R Garg, Mithram Z Wadia.
Background: Despite the fact that as many as 20% of patients may have associated cardiac involvement, these manifestations are seldom discussed in reviews on the clinical aspects. The present study has been carried out to know the involvement of cardiovascular system as indicator and mortality in leptospirosis. Methodology: The present study was carried out in Govt Medical College and New Civil Hospital, Surat during outbreak of Leptospirosis where all the patients with clinical suspicion of Leptospirosis were screened by IgM anti leptospira antibody ELISA (SERION ELISA), CK-MB levels, ECG changes and 2D ECHO changes. Results: It is seen that Myocarditis is maximum in more than 56 years which is about 66.6%. Out of 35 patients who were investigated with 2D echo, 18 patients (51.4%) had abnormal 2D ECHO findings. In the present study 18 patients had 2D ECHO changes in the form of reduced ejection fraction, regional wall abnormality, pericardial effusion and valvular abnormality. As the Ejection Fraction decreases the mortality increases. In EF 40-50% non survivors are 28.6%, EF 30-40% non survivors is 62.5% and EF less than


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Effect of Sudarshan Kriya Yoga on Auditory and Visual Reaction Time in Medical Students

2016-11-14T16-26-55Z
Source: National Journal of Medical Research
Sushma S Jadhav, Rupali F Bandgar, Asha D Jadhav.
Background: Yoga was found to cause a better improvement in the health of the individuals with and without ailments. Audio-visual reaction time is important indicator in cause better improvement in reaction time. Hence, this study intended to show its utility as a short course for improving the reaction time. Aim and objective : To find out effect of Sudarshankriya yoga on audio-visual reaction time in medical students by recording the audio-visual reaction time in medical students before & after Sudarshan kriya yoga practical for one month. Material and Methods: The present study was conducted on 60 practical students, who came voluntarily as subjects for the project. Their age ranged between 18 to 20 years. Audio-visual reaction time measured by apparatus designed by Anand Agencies Pune. Results: In present study there was significant (p


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CANSCORE- Important Index For Detection of Fetal Malnutrition at Birth

2016-11-14T16-26-55Z
Source: National Journal of Medical Research
Ajay Sethi, Devang D Gandhi, Shradha H Patel, Darshan K Presswala, Shefali B Patel.
Introduction: Malnutrition refers to the situation where there is an unbalanced diet in which some nutrients are in excess, lacking or wrong proportion. Simply put, we can categorise it to be under-nutrition and over-nutrition. Despite India's 50% increase in GDP since 1991,3 more than one third of the world's malnourished children live in India. The present study was conducted to assess utility of CANSCORE and it compared with other commonly used measures for defining the nutritional status at birth. Methodology: The current study was conducted by the department of Paediatrics, S.M.S. Medical College, Jaipur. All neonates delivered at Mahila and Zenana Hospital, S.M.S. Medical College, Jaipur. All neonates delivered at the hospital and fulfilling inclusion criteria during one year period were included in the study. Different indices to measure nutritional status of newborns like Birth weight to Gestational Age, Ponderal Index, Mid Arm Circumference/ Head Circumference Ratio and CANSCORE were calculated. Clinical Assessment of Nutrition Score (CANSCORE)- is done within 48 hours on the basis of superficial readily detectable signs of malnutrition in the newborn as described by Metcoff. Results: According to Birth weight to Gestational Age criteria, 116 (23.2%) newborns were malnourished (Small for Gestational Age). According to Ponderal Index, 120 (24%) newborns were malnourished (PI

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Spike Detection: Inter-reader agreement and a statistical Turing test on a large data set

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Publication date: Available online 14 November 2016
Source:Clinical Neurophysiology
Author(s): Mark L. Scheuer, Anto Bagic, Scott B. Wilson
ObjectiveCompare the spike detection performance of three skilled humans and three computer algorithms.Methods40 prolonged EEGs, 35 containing reported spikes, were evaluated. Spikes and sharp waves were marked by the humans and algorithms. Pairwise sensitivity and false positive rates were calculated for each human-human and algorithm-human pair. Differences in human pairwise performance were calculated and compared to the range of algorithm versus human performance differences as a type of statistical Turing test.Results5,474 individual spike events were marked by the humans. Mean, pairwise human sensitivities and false positive rates were 40.0%, 42.1%, and 51.5%, and 0.80, 0.97, and 1.99/min. Only the Persyst 13 (P13) algorithm was comparable to humans – 43.9% and 1.65/min. Evaluation of pairwise differences in sensitivity and false positive rate demonstrated that P13 met statistical noninferiority criteria compared to the humans.ConclusionHumans had only a fair level of agreement in spike marking. The P13 algorithm was statistically noninferior to the humans.SignificanceThis was the first time that a spike detection algorithm and humans performed similarly. The performance comparison methodology utilized here is generally applicable to problems in which skilled human performance is the desired standard and no external gold standard exists.



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Sleep EEG patterns in infants with congenital Zika virus syndrome

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Publication date: Available online 14 November 2016
Source:Clinical Neurophysiology
Author(s): Maria Durce Costa Gomes Carvalho, Demócrito de Barros Miranda- Filho, Vanessa van der Linden, Paula Fabiana Sobral, Regina Coeli Ferreira Ramos, Maria Ângela Wanderley Rocha, Marli Tenório Cordeiro, Sarah Pinheiro de Alencar, Magda Lahorgue Nunes
ObjectivesTo describe sleep EEG patterns of neonates, and infants with microcephaly due to congenital Zika virus (ZikV) syndrome.MethodsA descriptive case series of EEGs performed in a cohort of neonates with microcephaly monitored from October 2015 to February 2016 at a University Hospital in Northeast Brazil. Infants were investigated following an established protocol that includes EEG, neuroimaging studies, PCR and specific antibodies for ZikV detection.ResultsEEGs (n=37) from 37 infants were reviewed. Age at investigation varied from 1 to 5 months (mean= 2.6). Diffuse low voltage (n=7), background asymmetry (n=6) and modified hypsarrhythmia with or without burst–suppression (n=11), were the main background abnormalities identified. Interictal EEG abnormalities were identified in 23 recordings (62%) and localized as focal frontal (n=8) or occipital (n=2) spikes/sharp, multifocal spikes/sharp waves (n=13). Electrographic seizures without clinical manifestation were identified in 4 recordings and characterized as focal pseudo rhythmic pattern. Further findings were focal high amplitude slow waves that were registered in the frontal (n=3) or occipital (n=1) regions.ConclusionsDifferent types of EEG abnormalities were encountered with a predominance of interictal epileptogenic activity and hypsarrhythmia.SignificanceSleep EEGs in congenital Zika virus syndrome are consistently abnormal even in infants who have not yet developed epilepsy.



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Remember 2 Things: Identifying EMS PTSD

Steve Whitehead, host of Remember 2 Things, discusses a couple points for EMS providers to keep in mind that are dealing with on-the-job stress, burnout or PTSD. One of the most difficult things can be making the decision to dealing with it yourself to seeking professional help. Learn more about The Code Green Campaign here.

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Methodological issues in the use of individual brain measures to index trait liabilities: The example of noise-probe P3

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Publication date: Available online 14 November 2016
Source:International Journal of Psychophysiology
Author(s): Emily R. Perkins, James R. Yancey, Laura E. Drislane, Noah C. Venables, Steve Balsis, Christopher J. Patrick
Recent research initiatives have called for an increased use of biological concepts and measures in defining and studying mental health problems, but important measurement-related challenges confront efforts in this direction. This article highlights some of these challenges with reference to an intriguing measure of neural reactivity: the probe P3 response, a mid-latency brain potential evoked by an intense, unexpected acoustic-probe stimulus. Using data for a large adult sample (N=418), we report evidence that amplitude of probe P3 response to unwarned noise bursts occurring in a picture-viewing task exhibits robust, independent associations with two distinct trait constructs: weak inhibitory control (or disinhibition; DIS) and threat sensitivity (THT). Additionally, we report a selective association for THT with attentional suppression of probe P3 response during viewing of aversive pictures compared to neutral. These results point to separable elements of variance underlying the probe P3 response, including one element reflecting DIS-related variations in cognitive-elaborative processing, and others reflecting THT-related variations in aversive foreground engagement and abrupt defensive reorientation. Key measurement issues are considered in relation to these specific findings, and methodological and statistical approaches for addressing these issues are discussed in relation to advancement of a quantitatively sound, biologically informed science of psychopathology.



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Remember 2 Things: Identifying EMS PTSD

EMS body armor can minimize the risk of injury during a violent attack. Steve Whitehead, host of Remember 2 Things, discusses a couple points for EMS agencies to keep in mind if they make the decision to have crews wear body armor. Check out more news, feature articles, resources and tips about EMS body armor.

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Remember 2 Things: Identifying EMS PTSD

EMS body armor can minimize the risk of injury during a violent attack. Steve Whitehead, host of Remember 2 Things, discusses a couple points for EMS agencies to keep in mind if they make the decision to have crews wear body armor. Check out more news, feature articles, resources and tips about EMS body armor.

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Stolen Pa. fire dept. ambulance found

Fire company officials said a man stole the ambulance that was parked in front of the fire station.

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Foraging potential of underground storage organ plants in the southern Cape, South Africa

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Publication date: December 2016
Source:Journal of Human Evolution, Volume 101
Author(s): Elzanne Singels, Alastair J. Potts, Richard M. Cowling, Curtis W. Marean, Jan De Vynck, Karen J. Esler
Underground storage organs (USOs) serve as a staple source of carbohydrates for many hunter-gatherer societies and they feature prominently in discussions of diets of early modern humans. While the way of life of hunter-gatherers in South Africa's Cape no longer exists, there is extensive ethnographic, historical, and archaeological evidence of hunter-gatherers' use of USOs. This is to be expected, given that the Cape supports the largest concentration of plant species with USOs globally. The southern Cape is the location of several Middle Stone Age sites that are highly significant to research on the origins of behaviourally modern humans, and this provided the context for our research. Here, we evaluate the foraging potential of USOs by identifying how abundant edible biomass is in the southern Cape, how easily it is gathered, and how nutritious it is. One hundred 5 × 5 m plots were assessed in terms of USO species and abundance. Nearly all of the sites sampled (83%) contained edible USOs and some had high concentrations of edible biomass. Extrapolating from these sites suggests that the edible USO biomass falls within the range of biomass observed in areas supporting extant hunter-gatherer communities. The nutritional content for six USO species was assessed; these contained between 40 and 228 calories/100 g. Furthermore, foraging events were staged to provide an indication of the potential return rates for the same six USOs. The target species grow near the soil surface, mostly in sandy soils, and were gathered with minimal effort. Some 50% of the foraging events conducted yielded enough calories to meet the daily requirements of a hunter-gatherer within two hours. In conclusion, we demonstrate that USOs are a readily available source of carbohydrates in the southern Cape landscape and, therefore, there is a strong possibility that USOs played a critical role in providing food for early humans.



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Community paramedics offer guidance to mental health patients

By Shefali Luthra
Kaiser Health News

MODESTO, Calif. — For Kelly Kjelstrom, plugging the gaps in mental health care can mean something as simple as a late-night taco and a friendly chat.

Kjelstrom, 45, is a community paramedic in Modesto, California. Part of his job is to help psychiatric patients in need of care avoid winding up in the emergency room, where they can get "boarded" for days, until they are released or a bed frees up at an inpatient facility.

Here's how the concept of community paramedics works. When the local 911 system comes upon a patient with a potential mental health crisis, these specially trained paramedics are dispatched to the scene. They've learned to identify problems, intervene and de-escalate the situation.

After a physical assessment, paramedics like Kjelstrom talk to the patient — to figure out what, precisely, the issue is, asking also about issues like a patient's mental health history, drug use and insurance status. They use that information, along with details about resources available, to figure out the next steps for the patient — maybe it is a hospital or a psych facility, or maybe it is outpatient care.


Increasingly, these paramedics also become involved in follow-up. Kjelstrom estimates that, on visits, he spends twice as long with patients as he used to. He builds relationships with them. While out on duty, if he runs across a familiar face, he stops and checks in. Like over a night-time snack.

"One of the patients we see on a regular basis," Kjelstrom said. "I buy him a taco, no big deal, and I remind him to take his meds."

That simple interaction, he said, can keep someone out of the ER, and on the path to better health.

The Modesto pilot program launched a year ago. Similar projects are also underway in North Carolina, Minnesota, Texas, Colorado and Georgia. Other states, such as Washington and Nevada, have shown interest.

"Emergency departments are bursting at the seams," said Kevin Mackey, medical director of the Mountain Valley EMS agency, who launched the Modesto initiative, which has now been operating for a year. "This is at least a partial answer to giving people care in the right place at the right time."

Those efforts come as the issue of mental illness, which affects about 1 in 4 adults, continues to be a national concern and cases like October's police shooting of a woman with schizophrenia in New York spark conversation about ways to better reach these patients.

"If we could coordinate care — if we have the right medications and the right coordinating approach to these patients, we can avoid shooting people," Mackey added.

Jurisdictions are beginning to see the benefits.

In Wake County, North Carolina, for instance, a third of mental health-related 911 calls are now sent to specialized psychiatric facilities, said Michael Bachman, deputy director at the county's Office of Medical Affairs. That's about 350 patients a year who would otherwise have gone to the emergency department.

But patients can only be connected with the treatment they need if there are doctors or treatment sites available. Often, they aren't.

In addition, no one has been able to track whether these patients stay healthier, Bachman acknowledged.

And that's in part because of another issue. Paramedics can only redirect patients from the ER if there's somewhere else to take them and if they'll get proper follow-up care after. Far too often, experts said, that isn't the case.

"This works," Bachman said. "But the thing that has to improve is there has to be more access to places for patients to go."

In Modesto, Kjelstrom will see patients who would most benefit from a short stay in a dedicated mental health facility. But he'll often run up against the issue that the local centers just don't have enough beds to take patients in need. That limits how effective he can really be, he said.


Mackey said he estimates 30 percent of the time that patients needed to go to an inpatient facility, there wasn't a bed available. It's a similar story elsewhere. For Atlanta-based Grady Health System, which launched a paramedic program in 2012, finding available bed-space remains "a pretty big challenge," said Michael Colman, the system's vice president of EMS operations.

And then there's follow up.

"If we're talking about using community paramedics — or social workers, or some other community organization — to connect people with behavioral health care services, [these kinds of barriers] are an issue," said Kate Blackman, senior policy specialist for the health program at the National Council of State Legislatures.

Even so, experts said, it's a promising first step.

"We're moving in the right direction with programs like these," said Karen Shore, a principal at the California-based consulting firm Transform Health. "It isn't solving all of our health system problems. But that's not a fair expectation."



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Restraint and capnography: Lifesaving for patients and career-saving for medics

Understand how capnography identifies respiratory and cardiovascular compromise in restrained patients.

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8 habits for NREMT exam success

Many EMS students believe that the National Registry of EMT cognitive exam is an extremely challenging test, filled with poorly worded questions that seem to be missing lots of information needed to answer it. Even the answers seem strange — often there is more than one "right" answer.

The fact is, like every other EMS exam, the NREMT cognitive exam is only challenging if you are not prepared to take it. With planning and practice, the NREMT written test can be very straightforward. Here are eight habits I have taught to and observed in hundreds of successful students who passed the NREMT cognitive exam on their first attempt.

Habit 1: Preparation begins early.
If you know that the NREMT exam is waiting for you at the end of your class, keeping that in mind while you're still in the class will help create a mindset that prepares you for first time success. Pay attention to the topics your instructor presents — they are likely the more critical ones to master. Review your in class exam results so you better understand why you chose the wrong answers. Ask about topics that are difficult for you. There are truly no dumb questions except the ones you don't ask and regret not doing so later.

Habit 2: Study right.
While studying with friends and coworkers can be helpful, your brain does need some quiet time to process all of that information. Treat study time like class time. Each week set aside specific times to spend reviewing your notes and the reading. For example, schedule your Friday afternoons to be in the library from 1 to 5 p.m. Prep your study materials so that you don't waste time pulling everything together at the last minute. Reduce or eliminate distraction — those earbuds fill your brain with music, not knowledge (unless you're listening to recorded lectures or the Inside EMS podcast, of course!)

Habit 3: Give your brain a break.
Too much studying can be less than helpful. It's probably better to study over four, two-hour sessions spread throughout the week, rather than trying to read nonstop for eight hours. Like any other muscle, the brain can only absorb so much without having to take a break to process.

Habit 4: Know what to expect.
Any multiple choice exam item consists of the same parts. The first "question" part is called the stem. The best choice is the answer. The remaining choices are called distractors.

There are several distinguishing traits that separate NREMT exam questions from the ones you may have seen in class. First, the stem does contain all of the information you need to answer it correctly. You may need to infer certain pieces of information from what you read. For example, an anxious patient with cool pale and diaphoretic skin may be hypotensive. Second, the difficulty of the question is really set in the quality of the choices. Notice that you are choosing the best answer, not the right one on an NREMT exam. That's because there may be more than one right answer, depending on how you interpret the stem (that's why they are called distractors). One will be the most correct, under the circumstances being described in the stem.

Habit 5: Answer the question first, then look at the answers.
You probably have heard of this test taking tip before and it's helpful. If you really understand the stem, you should be able to formulate a response before you look at the choices. If your initial response does not match the choices, then re-read the stem to make sure you understand its intent.

Habit 6: Be confident.
The NREMT exam is designed to feel hard. That's because it's adaptive, meaning that if you answer one question correctly, the computer will give you another question in the same content area that is harder. If you get that one right, you'll receive another question that's even more challenging. This continues until the computer determines that your knowledge base is at a level deemed entry level competent in that area before it moves on to the next section. That's why students who take the exam say that's a very challenging test. The questions push against your level of proficiency. Don't let that wreck your confidence. You got this! A positive attitude keeps you relaxed and focused, no different than playing sports or mastering a new hobby.

Habit 7: Let go after each question.
The NREMT exam does not let you go back to a question once you've answered it. That means no regret on your part. Once you have answered the question, move on. Don't dwell on the question.

If you aren't able to choose the best response right away, eliminate the ones that are clearly wrong. This technique increases your chances of making a correct educated guess from 25 percent to 33 percent or even 50 percent.

Habit 8: Practice for success.
Taking a multiple choice exam is a skill, just like applying a splint or starting an IV. The more times you take tests, the better you will be at understanding stems and choosing the best answer. There are a variety of online and book-based test prep solutions; if you are not a confident test taker, these materials are worth the investment.

By focusing on a few key areas, your confidence in passing the NREMT exam will improve. The investment you make now will pay off in getting you one step closer to achieving your career goal!



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Paramedic - Millcreek Paramedic Service

Millcreek Paramedic Service is seeking Full and Part-Time Paramedics (EMT-P). MPS is a Non-Profit emergency and non-emergency ambulance and paratransit provider in Millcreek Township, with approximately 54,000 residents. As an employee of MPS you can enjoy a sign on bonus, competitive salary, and excellent benefits package!

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Identification of Differential Gene Expression Patterns after Acute Exposure to High and Low Doses of Low-LET Ionizing Radiation in a Reconstituted Human Skin Tissue

Radiation Research, Volume 186, Issue 5, Page 531-538, November 2016.


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Base Release and Modification in Solid-Phase DNA Exposed to Low-Energy Electrons

Radiation Research, Volume 186, Issue 5, Page 520-530, November 2016.


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Quantification of Radiation Biomarkers in Leukocytes of Breast Cancer Patients Treated with Different Modalities of 3D-CRT or IMRT

Radiation Research, Volume 186, Issue 5, Page 508-519, November 2016.


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Alteration of Selected Neurotrophic Factors and their Receptor Expression in Mouse Brain Response to Whole-Brain Irradiation

Radiation Research, Volume 186, Issue 5, Page 489-507, November 2016.


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Long-Term Cognitive Functioning in Single-Dose Total-Body Gamma-Irradiated Rhesus Monkeys (Macaca mulatta)

Radiation Research, Volume 186, Issue 5, Page 447-454, November 2016.


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Late DNA Damage Mediated by Homologous Recombination Repair Results in Radiosensitization with Gemcitabine

Radiation Research, Volume 186, Issue 5, Page 466-477, November 2016.


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State-of-the-Art Advances in Radiation Biodosimetry for Mass Casualty Events Involving Radiation Exposure

Radiation Research, Volume 186, Issue 5, Page 423-435, November 2016.


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Effect of Radiofrequency Radiation on Human Hematopoietic Stem Cells

Radiation Research, Volume 186, Issue 5, Page 455-465, November 2016.


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Total-Body Irradiation Exacerbates Dissemination of Cutaneous Candida Albicans Infection

Radiation Research, Volume 186, Issue 5, Page 436-446, November 2016.


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IPW-5371 Proves Effective as a Radiation Countermeasure by Mitigating Radiation-Induced Late Effects

Radiation Research, Volume 186, Issue 5, Page 478-488, November 2016.


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Dissecting the genetics of complex traits using summary association statistics

Nature Reviews Genetics. doi:10.1038/nrg.2016.142

Authors: Bogdan Pasaniuc & Alkes L. Price



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Making sense of genomic islands of differentiation in light of speciation

Nature Reviews Genetics. doi:10.1038/nrg.2016.133

Authors: Jochen B. W. Wolf & Hans Ellegren



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Microbial genome-wide association studies: lessons from human GWAS

Nature Reviews Genetics. doi:10.1038/nrg.2016.132

Authors: Robert A. Power, Julian Parkhill & Tulio de Oliveira



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Contralateral Neck Metastasis In Oral Squamous Cell Carcinoma-Report Of Two Cases With Review Of Literature

2016-11-14T06-16-00Z
Source: The Southeast Asian Journal of Case Report and Review
Kavitha Prasad, Rajanikanth B R, Sejal Munoyath, Parimala Sagar, Vineeth K, Anand D.
Lymph node metastasis in the neck is an important prognostic and survival factor in patients with Oral Squamous Cell Carcinoma (OSCC). Patients with pathologically negative cervical lymph nodes are believed to have a good prognosis. However, outcome of patients with lymph node metastasis, occurring after surgical excision and/or adjuvant therapy of the primary tumor is poor. A review of literature shows that the frequency of contralateral neck node metastasis (CLNM) in oral carcinomas varies from 4% to 16.1%.The CLNM includes the presence of initial CLNM, occult CLNM confirmed by pathological study and contralateral neck relapse. The risk factors for CLNM are still controversial and debatable. Primary site and location of the tumor, its extension, clinical stage, pathologic grade, tumor thickness and perineural invasion are the most common risk factors involved in CLNM. In this paper, we discuss two cases of OSCC with CLNM following surgery with adjuvant chemotherapy and radiotherapy (CTRT). The main objective of these case reports is to review the literature and look at the possible predictive clinicopathologic factors for CLNM in surgically treated primary OSCC.


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Identification and functional characterisation of genetic variants in OLFM2 in children with developmental eye disorders

Abstract

Anophthalmia, microphthalmia, and coloboma are a genetically heterogeneous spectrum of developmental eye disorders and affect around 30 per 100,000 live births. OLFM2 encodes a secreted glycoprotein belonging to the noelin family of olfactomedin domain-containing proteins that modulate the timing of neuronal differentiation during development. OLFM2 SNPs have been associated with open angle glaucoma in a case–control study, and knockdown of Olfm2 in zebrafish results in reduced eye size. From a cohort of 258 individuals with developmental eye anomalies, we identified two with heterozygous variants in OLFM2: an individual with bilateral microphthalmia carrying a de novo 19p13.2 microdeletion involving OLFM2 and a second individual with unilateral microphthalmia and contralateral coloboma who had a novel single base change in the 5′ untranslated region. Dual luciferase assays demonstrated that the latter variant causes a significant decrease in expression of OLFM2. Furthermore, RNA in situ hybridisation experiments using human developmental tissue revealed expression in relevant structures, including the lens vesicle and optic cup. Our study indicates that OLFM2 is likely to be important in mammalian eye development and disease and should be considered as a gene for human ocular anomalies.



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Analysis of copy number variants in 11 pairs of monozygotic twins with neurofibromatosis type 1

Phenotypic variability among individuals with neurofibromatosis type 1 (NF1) has long been a challenge for clinicians and an enigma for researchers. Members of the same family and even identical twins with NF1 often demonstrate variable disease expression. Many mechanisms for this variability have been proposed. We have performed an exploratory study of copy number variants (CNVs) as a possible source of phenotypic variability in NF1. We enrolled 11 pairs of monozygotic (MZ) twins with NF1 and their parents, catalogued their clinical characteristics, and utilized a single nucleotide polymorphism (SNP) microarray to identify CNVs in blood and saliva. The 11 twin pairs showed high concordance for presence and number of café-au-lait spots, cutaneous neurofibromas, IQ, and ADHD. They were more likely to be discordant for optic pathway glioma, plexiform neurofibromas, skeletal manifestations, and malignancy. Microarray analysis identified a total of 81 CNVs meeting our conservative criteria, 37 of which overlap known genes. Of interest, three CNVs were previously unreported. Microarray analysis failed to ascertain any CNV differences within twin pairs, between twins and parents, or between tissues in any one individual. Results of this small pilot study did not demonstrate any de novo CNV events in our MZ twin pairs, nor were de novo CNVs overrepresented in these individuals with NF1. A much larger sample size would be needed to form any conclusions about the role of CNVs in NF1 variable expressivity. Alternative explanations for discordant phenotypes include epigenetic changes, smaller genetic alterations, or environmental factors. © 2016 Wiley Periodicals, Inc.



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Clinical and molecular diagnosis of a cartilage-hair hypoplasia with IGF-1 deficiency

Cartilage-hair hypoplasia syndrome (CHH) is a rare autosomal recessive condition characterized by metaphyseal chondrodysplasia and characteristic hair, together with a myriad of other symptoms, being most common immunodeficiency and gastrointestinal complications. A 15-year-old Mexican male initially diagnosed with Hirschsprung disease and posterior immunodeficiency, presents to our department for genetic and complementary evaluation for suspected CHH. Physical, biochemical, and genetic studies confirmed CHH together with IGF-1 deficiency. For this reason, we propose IGF-1 replacement therapy for its well-known actions on hematopoiesis, immune function and maturation, and metabolism. © 2016 Wiley Periodicals, Inc.



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Characterization of pain, disability, and psychological burden in Marfan syndrome

The clinical manifestations of Marfan syndrome frequently cause pain. This study aimed to characterize pain in a cohort of adults with Marfan syndrome and investigate demographic, physical, and psychological factors associated with pain and pain-related disability. Two hundred and forty-five participants (73% female, 89% non-Hispanic white, 90% North American) completed an online questionnaire assessing clinical features of Marfan syndrome, pain severity, pain-related disability, physical and mental health, depressive symptoms, pain catastrophizing, and insomnia. Eighty-nine percent of respondents reported having pain with 28% of individuals reporting pain as a presenting symptom of Marfan syndrome. Almost half of individuals reported that pain has spread from its initial site. Participants in our study reported poor physical and mental health functioning, moderate pain-related disability, and mild levels of depressive symptoms, sleep disturbances, and pain catastrophizing. Those who identified pain as an initial symptom of Marfan syndrome and those who reported that pain had spread from its initial site reported greater psychological burden compared with those without pain as an initial symptom or pain spreading. Physical health is the largest predictor of pain severity and pain-related disability. While pain catastrophizing and worse mental health functioning are significant correlates of pain severity and pain-related disability, respectively. Pain is a significant and persistent problem in Marfan syndrome and is associated with profound disability and psychological burden. Further studies are indicated to better characterize the directionality of pain, pain-related disability, and psychological burden in Marfan syndrome. © 2016 Wiley Periodicals, Inc.



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Maternally derived 15q11.2-q13.1 duplication in a child with Lennox–Gastaut-type epilepsy and dysmorphic features: Clinical-genetic characterization of the family and review of the literature



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De novo microdeletions and point mutations affecting SOX2 in three individuals with intellectual disability but without major eye malformations

Loss-of-function mutations and deletions of the SOX2 gene are known to cause uni- and bilateral anophthalmia and microphthalmia as well as related disorders such as anophthalmia-esophageal-genital syndrome. Thus, anophthalmia/microphthalmia is the primary indication for targeted, "phenotype first" analyses of SOX2. However, SOX2 mutations are also associated with a wide range of non-ocular abnormalities, such as postnatal growth retardation, structural brain anomalies, hypogenitalism, and developmental delay. The present report describes three patients without anophthalmia/microphthalmia and loss-of-function mutations or microdeletions of SOX2 who had been investigated in a "genotype first" manner due to intellectual disability/developmental delay using whole exome sequencing or chromosomal microarray analyses. This result prompted us to perform SOX2 Sanger sequencing in 192 developmental delay/intellectual disability patients without anophthalmia or microphthalmia. No additional SOX2 loss-of-function mutations were detected in this cohort, showing that SOX2 is clearly not a major cause of intellectual disability without anophthalmia/microphthalmia. In our three patients and four further, reported "genotype first" SOX2 microdeletion patients, anophthalmia/microphthalmia was present in less than half of the patients. Thus, SOX2 is another example of a gene whose clinical spectrum is broadened by the generation of "genotype first" findings using hypothesis-free, genome-wide methods. © 2016 Wiley Periodicals, Inc.



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Variability in clinical and neuropsychological features of individuals with MAP2K1 mutations

Mutations in MAP2K1, a gene expressed within the RAS-mitogen activated protein kinase (RAS/MAPK) pathway, are generally associated with the clinical phenotype of cardiofaciocutaneous syndrome. Here we describe two male patients (ages 16 and 20 years) with mutations in MAP2K1 and heterogeneous clinical presentations. Both young men had short stature, some facial features suggesting a RASopathy and minimal cardiac involvement. Detailed medical and neuropsychological findings are presented alongside a comprehensive review of features of patients with MAP2K1 mutations reported in the literature. Published studies have indicated that cognitive functioning of individuals with MAP2K1 mutations can range from severe intellectual disability to mildly below average. Neither of the individuals presented here had severe intellectual disability, and one had intellectual functioning within the average range. Neurodevelopmental concerns that were common among our two patients included fine motor difficulties, slow processing speed, reduced attention span, learning disabilities, and diminished energy/alertness. Taken together, our findings demonstrate that mutations in MAP2K1, which are frequently associated with neurological complications and intellectual disability, can be associated with a milder clinical and neurocognitive profile more typical of individuals with Noonan syndrome. Variability of expression may arise from a complex interplay between RAS/MAPK pathway genotype, epigenetics, medical and obstetric factors, and environmental influences. © 2016 Wiley Periodicals, Inc.



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Gallbladder opacification on gadoxetate disodium-enhanced CT scan

Emergency Radiology

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Prospective comparison of magnetic resonance imaging, transrectal and transperineal sonography, and surgical findings in complicated perianal crohn disease

Journal of Ultrasound in Medicine

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Hepatitis B virus infection and decreased risk of non-alcoholic fatty liver disease: A cohort study

Hepatology

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Additive value of pre-operative and one-month post-operative lymphocyte count for death-risk stratification in patients with resectable pancreatic cancer: A multicentric study

BMC Cancer

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HSP110 promotes colorectal cancer growth through STAT3 activation

Oncogene

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Low-level viremia and the increased risk of hepatocellular carcinoma in patients receiving entecavir treatment

Hepatology

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The genetic background of inflammatory bowel disease: From correlation to causality

The Journal of Pathology

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Mailed outreach program increases ultrasound screening of patients with cirrhosis for hepatocellular carcinoma

Gastroenterology

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Reciprocal androgen receptor/interleukin-6 crosstalk drives oesophageal carcinoma progression and contributes to patient prognosis

The Journal of Pathology

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Ursodeoxycholic acid therapy in intrahepatic cholestasis of pregnancy: Results in real-world conditions and factors predictive of response to treatment

Digestive and Liver Diseases

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Blood fats equals risk of pancreatitis

University of Copenhagen Faculty of Health and Medical Sciences News

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A randomised trial of post-discharge enteral feeding following surgical resection of an upper gastrointestinal malignancy

Clinical Nutrition

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Higher thyrotropin concentration is associated with increased incidence of colorectal cancer in older men

Clinical Endocrinology

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The infant gut microbiome correlates significantly with rotavirus vaccine response in rural Ghana

The Journal of Infectious Diseases

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Transumbilical laparoscopically assisted extracorporeal appendectomy in children and young adults: A retrospective cohort study

International Journal of Surgery

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Additional mailing phase for FIT after a medical offer phase: The best way to improve compliance with colorectal cancer screening in France

Digestive and Liver Diseases

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Risk factors for reoperation after ileostomy reversal - results from a prospective trial

International Journal of Surgery

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Pylorus-preserving surgery based on the sentinel node concept in early gastric cancer

Annals of Surgical Oncology

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Small bowel diverticulitis: An imaging review of an uncommon entity

Emergency Radiology

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Sectional localization of a small hepatocellular carcinoma in the right hepatic lobe by computed tomography: Comparison between the conventional and portal vein tracing methods

European Radiology

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