Publication date: Available online 6 May 2017
Source:Biochimica et Biophysica Acta (BBA) - Gene Regulatory Mechanisms
Author(s): Kyung-Won Min, Sylvia Davila, Richard W. Zealy, Lawson T. Lloyd, In Young Lee, Rumi Lee, Kyung Hye Roh, Ahjin Jung, Jacek Jemielity, Eui-Ju Choi, Jeong Ho Chang, Je-Hyun Yoon
Post-transcriptional gene regulation is an important step in eukaryotic gene expression. The last step to govern production of nascent peptides is during the process of mRNA translation. mRNA translation is controlled by many translation initiation factors that are susceptible to post-translational modifications. Here we report that one of the translation initiation factors, eIF4E, is phosphorylated by Mammalian Ste20-like kinase (MST1). Upon phosphorylation, eIF4E weakly interacts with the 5′ CAP to inhibit mRNA translation. Simultaneously, active polyribosome is more associated with long noncoding RNAs (lncRNAs). Moreover, linc00689-derived a micropeptide, STORM (Stress- and TNF-α-activated ORF Micropeptide), is induced by TNF-α-induced and MST1-mediated eIF4E phosphorylation exhibits molecular mimicry of SRP19 and, thus, competes for 7SL RNA. Our findings have uncovered a novel function of MST1 in mRNA and lncRNA translation by direct phosphorylation of eIF4E. This novel signaling pathway will provide new platforms for mRNA regulation of mRNA translation via post-translational protein modification.
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Σάββατο 6 Μαΐου 2017
eIF4E phosphorylation by MST1 reduces translation of a subset of mRNAs, but increases lncRNA translation
Gastrointestinal mantle cell lymphoma with isolated mass and multiple lymphomatous polyposis: report of two cases
Abstract
We herein report two patients with mantle cell lymphoma (MCL), who had isolated mass and multiple lymphomatous polyposis (MLP) in the gastrointestinal tract. In case 1, esophagogastroduodenoscopy revealed a protruding mass in the duodenum and double-balloon endoscopy disclosed numerous polypoid lesions in the ileum. Case 2 had polyposis in the duodenum and a large mass-forming lesion in the ascending colon. Based on the histologic and immunohistochemical findings of the biopsy specimens, the diagnosis of MCL was made in both patients. A combination of isolated mass and MLP is considered as characteristic endoscopic findings of intestinal lesions of MCL.
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Interferon-free therapy with sofosbuvir plus ribavirin for successful treatment of genotype 2 hepatitis C virus with lichen planus: a case report
Abstract
Hepatitis C virus (HCV) infection remains the main cause of liver disease and can lead to chronic hepatitis, cirrhosis, and hepatocellular carcinoma. HCV may also develop extrahepatic manifestations in the skin, eyes, joints, kidneys, nervous system, and immune system. In fact, several studies reported that up to 70% of HCV patients experienced extrahepatic manifestations. Lichen planus (LP), which is an immune system disorder that is triggered by viral infections, allergens, and stress, can affect the skin, mouth, nails, and scalp. The association of LP with HCV has been reported, but the effect of HCV treatment on LP remission is controversial. We encountered a 53-year-old man with HCV genotype 2a and LP that were successfully treated with sofosbuvir and ribavirin for 12 weeks. After treatment, he achieved sustained virological response against HCV and remission of erosive LP lesions on the lip. In the era of interferon (IFN)-based treatment for HCV, exacerbation of autoimmune diseases is a common adverse event. Therefore, use of an IFN-free regimen of direct-acting antivirals for HCV might prevent the extrahepatic manifestation of an immune disorder.
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CT colonography: role in FOBT-based screening programs for colorectal cancer
Abstract
Computed tomographic colonography (CTC) is a minimally invasive imaging examination for the colon, and is safe, well tolerated and accurate for the detection of colorectal cancer (CRC) and advanced adenoma. While the role of CTC as a primary test for population screening of CRC is under investigation, the fecal occult blood test (FOBT) has been recommended for population screening of CRC in Europe. Subjects with positive FOBT are invited to undergo total colonoscopy, which has some critical issues, such as suboptimal compliance, contraindications and the possibility of an incomplete exploration of the colon. Based on available data, the integration of CTC in FOBT-based population screening programs for CRC may fall into three scenarios. First, CTC is recommended in FOBT-positive subjects when colonoscopy is refused, incomplete or contraindicated. For these indications CTC should replace double-contrast barium enema. Second, conversely, CTC is not currently recommended as a second-level examination prior to colonoscopy in all FOBT-positive subjects, as this strategy is most probably not cost-effective. Finally, CTC may be considered instead of colonoscopy for surveillance after adenoma removal, but specific studies are needed.
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Uptake of 123 I-metaiodobenzylguanidine by gastrointestinal stromal tumor
Abstract
A 52-year-old woman was admitted with a large intraabdominal mass. 123I- metaiodobenzylguanidine (123I-MIBG) scintigraphy revealed considerable 123I-MIBG accumulation by the mass that was compatible with a diagnosis of paraganglioma. However, a spindle cell tumor that was identified using endoscopic ultrasound-guided fine needle aspiration before surgery was positive for CD117. The surgically resected mass was confirmed as a gastrointestinal stromal tumor (GIST). Although the mechanism of 123I-MIBG uptake by GIST has not been elucidated, GIST should be included in the differential diagnosis of intra-abdominal tumor with 123I-MIBG uptake.
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Utility of Doppler ultrasonography for diagnosing and assessing treatment effects in liver compartment syndrome
Abstract
Liver compartment syndrome is a life-threatening complication of hepatic subcapsular hematoma; diagnosis and assessment of treatment effects are therefore important. We report a rare case of liver compartment syndrome due to spontaneous hepatic subcapsular hematoma without any underlying conditions, in which Doppler ultrasonography (US) proved useful in both diagnosis and assessment of treatment effects. A 32-year-old woman experienced sudden epigastralgia and was diagnosed with hepatic subcapsular hematoma in the right lobe, based on contrast-enhanced computed tomography. Hepatic arteriography showed active hemorrhage and Doppler US showed retrograde flow in the right portal vein. From these findings, we diagnosed hepatic subcapsular hematoma complicated with liver compartment syndrome, and performed embolization of the bleeding point and percutaneous hematoma drainage. After these medical procedures, normalized antegrade flow in the right portal vein was observed on Doppler US. No underlying conditions contributing to hematoma were identified. In this case, Doppler US was useful for both diagnosis and assessment of treatment effects in liver compartment syndrome. When we examine patients with hepatic subcapsular hematoma, Doppler US should be used to diagnose the presence of liver compartment syndrome and assess treatment effects.
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The genetic basis of deafness in populations of African descent
Publication date: Available online 6 May 2017
Source:Journal of Genetics and Genomics
Author(s): Jason R. Rudman, Rosemary I. Kabahuma, Sara E. Bressler, Yong Feng, Susan H. Blanton, Denise Yan, Xue-Zhong Liu
Hearing loss is the most common sensorineural disorder worldwide and is associated with more than 1000 mutations in more than 90 genes. While mutations in genes such as GJB2 (gap-junction protein β 2) and GJB6 (gap-junction protein β 6) are highly prevalent in Caucasian, Asian, and Middle Eastern populations, they are rare in both native African populations and those of African descent. The objective of this paper is to review the current knowledge regarding the epidemiology and genetics of hearing loss in African populations with a focus on native sub-Saharan African populations. Environmental etiologies related to poor access to healthcare and perinatal care account for the majority of cases. Syndromic etiologies including Waardenburg, Pendred, and Usher syndromes are uncommon causes of hearing loss in these populations. Of the non-syndromic causes, common mutations in GJB2 and GJB6 are rarely implicated in populations of African descent. Recent use of next-generation sequencing (NGS) has identified several candidate deafness genes in African populations from Nigeria and South Africa that are unique when compared to common causative mutations worldwide. Researchers also recently described a dominant mutation in MYO3a in an African American family with nonsyndromic hearing loss. The use of NGS and specialized panels will aid in identifying rare and novel mutations in a more cost and time effective manner. The identification of common hearing loss mutations in indigenous African populations will pave the way for translation into genetic deafness research in populations of African descent worldwide.
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Why background colour matters to bees and flowers
Abstract
Flowers are often viewed by bee pollinators against a variety of different backgrounds. On the Australian continent, backgrounds are very diverse and include surface examples of all major geological stages of the Earth's history, which have been present during the entire evolutionary period of Angiosperms. Flower signals in Australia are also representative of typical worldwide evolutionary spectral adaptations that enable successful pollination. We measured the spectral properties of 581 natural surfaces, including rocks, sand, green leaves, and dry plant materials, sampled from tropical Cairns through to the southern tip of mainland Australia. We modelled in a hexagon colour space, how interactions between background spectra and flower-like colour stimuli affect reliable discrimination and detection in bee pollinators. We calculated the extent to which a given locus would be conflated with the loci of a different flower-colour stimulus using empirically determined colour discrimination regions for bee vision. Our results reveal that whilst colour signals are robust in homogeneous background viewing conditions, there could be significant pressure on plant flowers to evolve saliently-different colours to overcome background spectral noise. We thus show that perceptual noise has a large influence on how colour information can be used in natural conditions.
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Three-dimensional morphometrics of thoracic vertebrae in Neandertals and the fossil evidence from El Sidrón (Asturias, Northern Spain)
Source:Journal of Human Evolution, Volume 108
Author(s): Markus Bastir, Daniel García Martínez, Luis Rios, Antonio Higuero, Alon Barash, Sandra Martelli, Antonio García Tabernero, Almudena Estalrrich, Rosa Huguet, Marco de la Rasilla, Antonio Rosas
Well preserved thoracic vertebrae of Neandertals are rare. However, such fossils are important as their three-dimensional (3D) spatial configuration can contribute to the understanding of the size and shape of the thoracic spine and the entire thorax. This is because the vertebral body and transverse processes provide the articulation and attachment sites for the ribs. Dorsal orientation of the transverse processes relative to the vertebral body also rotates the attached ribs in a way that could affect thorax width. Previous research indicates possible evidence for greater dorsal orientation of the transverse processes and small vertebral body heights in Neandertals, but their 3D vertebral structure has not yet been addressed. Here we present 15 new vertebral remains from the El Sidrón Neandertals (Asturias, Northern Spain) and used 3D geometric morphometrics to address the above issues by comparing two particularly well preserved El Sidrón remains (SD-1619, SD-1641) with thoracic vertebrae from other Neandertals and a sample of anatomically modern humans. Centroid sizes of El Sidrón vertebrae are within the human range. Neandertals have larger T1 and probably also T2. The El Sidrón vertebrae are similar in 3D shape to those of other Neandertals, which differ from Homo sapiens particularly in central-lower regions (T6–T10) of the thoracic spine. Differences include more dorsally and cranially oriented transverse processes, less caudally oriented spinous processes, and vertebral bodies that are anteroposteriorly and craniocaudally short. The results fit with current reconstructions of Neandertal thorax morphology.
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The use of dehydrated human amnion/chorion membrane allograft injection (dHACM) for the treatment of tendinopathy or arthritis: a case series involving 40 patients
Degenerative joint and tendon injuries remain difficult to treat with few effective conservative treatment options. Regenerative approaches aim to promote the inherent healing capacity of injured tissues. Micronized dehydrated human amnion/chorion membrane (dHACM) injection is an emerging regenerative option with promising preclinical results.
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META-ANALYSIS OF THE IMPACT OF SPINK1 p.N34S GENE VARIATION IN CAUCASIC PATIENTS WITH CHRONIC PANCREATITIS. AN UPDATE.
SPINK1 p.N34S gene variation is one of the endogenous factors which seem to be associated with chronic pancreatitis (CP). However, in literature there is no clear agreement regarding its contribution in different ethnicity and CP etiologies.
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META-ANALYSIS OF THE IMPACT OF SPINK1 p.N34S GENE VARIATION IN CAUCASIC PATIENTS WITH CHRONIC PANCREATITIS. AN UPDATE.
SPINK1 p.N34S gene variation is one of the endogenous factors which seem to be associated with chronic pancreatitis (CP). However, in literature there is no clear agreement regarding its contribution in different ethnicity and CP etiologies.
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Validity of Robot-based Assessments of Upper Extremity Function
Publication date: Available online 5 May 2017
Source:Archives of Physical Medicine and Rehabilitation
Author(s): Alison McKenzie, Lucy Dodakian, Jill See, Vu Le, Erin Burke Quinlan, Claire Bridgford, Daniel Head, Vy L. Han, Steven C. Cramer
ObjectiveTo examine the validity of 5 robot-based assessments of arm motor function post-stroke.DesignCross sectional.SettingOutpatient clinical research center.ParticipantsVolunteer sample of 40 participants, age >18 years, 3-6 months post-stroke, with arm motor deficits that had plateaued.InterventionNone.Main Outcome MeasuresClinical standards included the Fugl-Meyer ArmMotor Scale (FMA), and 5 secondary motor outcomes: hand/wrist subsection of the FMA; Action Research Arm Test (ART); Box & Blocks test (B/B); hand subscale of Stroke Impact Scale-2 (SIS); and the Barthel Index (BI). Robot-based assessments included: wrist targeting; finger targeting; finger movement speed; reaction time; and a robotic version of the (B/B) test. Anatomical measures included percentage injury to the corticospinal tract (CST) and primary motor cortex (M1, hand region) obtained from MRI .ResultsSubjects had moderate-severe impairment (arm FMA scores = 35.6±14.4, range 13.5-60). Performance on the robot-based tests, including speed (r=0.82, p<0.0001), wrist targeting (r=0.72, p<0.0001), and finger targeting (r=0.67, p<0.0001) correlated significantly with the FMA scores. Wrist targeting (r=0.57 - 0.82) and finger targeting (r=0.49 - 0.68) correlated significantly with all 5 secondary motor outcomes and with percent CST injury. The robotic version of the B/B correlated significantly with the clinical B/B test but was less prone to floor effect. Robot-based assessments were comparable to FMA score in relation to percent CST injury and superior in relation to M1 hand injury.ConclusionsThe current findings support using a battery of robot-based methods for assessing the upper extremity motor function in subjects with chronic stroke.
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Immediate effects of mirror therapy in patients with shoulder pain and decreased range of motion
Publication date: Available online 5 May 2017
Source:Archives of Physical Medicine and Rehabilitation
Author(s): Adriaan Louw, Emilio J. Puentedura, Dave Reese, Paula Parker, Terra Miller, Paul Mintken
ObjectiveTo determine the effects of a brief single component of the graded motor imagery (GMI) sequence (mirror therapy) on active range of motion (AROM), pain, fear-avoidance and pain catastrophization in patients with shoulder pain.DesignSingle-blind case seriesSettingThree outpatient physical therapy clinicsParticipantsPatients with shoulder pain and limited AROM.InterventionsPatients moved their unaffected shoulder through comfortable AROM in front of a mirror so that it appeared that they were moving their affected shoulder.Main Outcome Measure(s)We measured pain, pain catastrophization, fear-avoidance and AROM in 69 consecutive patients with shoulder pain and limited AROM before and immediately after mirror therapy.ResultsThere were significant differences in self-reported pain (p=.014), Pain Catastrophization (p<.001), and the Tampa Scale of Kinesiophobia (p=.012) immediately after mirror therapy, although the means did not meet or exceed the minimal detectable change (MDC) for each outcome measure. There was a significant increase (mean = 14.5°) in affected shoulder flexion AROM immediately post-mirror therapy (p<0.001), which exceeded the MDC of 8 degrees.ConclusionsA brief mirror therapy intervention can result in statistically significant improvements in pain, pain catastrophization, fear-avoidance and shoulder flexion AROM in patients presenting with shoulder pain with limited AROM. The immediate changes may allow a quicker transition to multimodal treatment, including manual therapy and exercise in these patients. Further studies, including randomized controlled trials, are needed to investigate these findings and determine longer term effects.
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Mental Health Does Not Moderate Compensatory Cognitive Training Efficacy for Veterans with a History of Mild Traumatic Brain Injury
Publication date: Available online 5 May 2017
Source:Archives of Physical Medicine and Rehabilitation
Author(s): Kathleen F. Pagulayan, Maya O'Neil, Rhonda M. Williams, Aaron P. Turner, Shahrokh Golshan, Mai S. Roost, Benjamin Laman-Maharg, Marilyn Huckans, Daniel Storzbach, Elizabeth W. Twamley
ObjectiveTo examine the potential moderating effects of mental health symptoms on the efficacy of Compensatory Cognitive Training (CCT) for Operation Enduring Freedom (OEF)/Operation Iraqi Freedom (OIF)/Operation New Dawn (OND) Veterans with a history of mild traumatic brain injury (mTBI).DesignSecondary analysis of a randomized controlled trial of CCT. Posttraumatic stress disorder (PTSD), depression, and substance dependence symptom severity were examined as potential moderators of CCT efficacy for subjective cognitive complaints, use of cognitive strategies, and objective neurocognitive performance.SettingThree Veterans Affairs Medical Centers.Participants119 Veterans with history of mTBI; 50 participated in CCT and 69 received usual care (UC).InterventionCCT is a 10-week group based (90 min/session) manualized cognitive rehabilitation intervention.Main Outcome MeasuresObjective (neuropsychological functioning) and subjective (self-report) cognitive functioning as well as use of cognitive strategies.ResultsBaseline mental health symptoms did not moderate CCT efficacy: Veterans who received CCT reported significantly greater improvement in cognitive difficulties and use of cognitive strategies compared to the UC group regardless of baseline mental health symptom severity. The CCT group also demonstrated significant improvements on neuropsychological measures of attention, learning, and executive functioning compared to the UC group, regardless of baseline mental health symptom severity.CONCLUSIONSCCT is efficacious for improving objective cognitive functioning and compensatory strategy use for Veterans with a history of mTBI, regardless of the severity of comorbid psychiatric symptoms.
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Two-Year Gender Differences in Satisfaction with Appearance after Burn Injury and Prediction of Five-Year Depression: A Latent Growth Curve Approach
Publication date: Available online 5 May 2017
Source:Archives of Physical Medicine and Rehabilitation
Author(s): Nour Al Ghriwati, Megan Sutter, Bradford S. Pierce, Paul B. Perrin, Shelley A. Wiechman, Jeffrey C. Schneider
ObjectiveTo use latent growth curve and longitudinal structural equation modeling to examine the two-year trajectory of satisfaction with appearance in adults with burn injury and that trajectory's effect on depression five years after burn injury.DesignData were collected at discharge after burn injury hospitalization, six months, one year, two years, and five years post-discharge.SettingThe Burn Model System (BMS) program consisted of a data center and five participating burn centers.ParticipantsThe sample consisted of 720 adults who were hospitalized for a burn injury, enrolled in the BMS database, and completed measures at least once throughout the five-year study duration.Interventionsn/aMain Outcome Measure(s)Satisfaction with Appearance Scale and Patient Health Questionnaire-9 (depression).ResultsWomen with burn injury reported higher levels of dissatisfaction with their appearance in comparison to their male counterparts over the two years following discharge. Individuals with a larger total burn surface area (TBSA) also reported greater body dissatisfaction across the post-discharge two-year period. Results did not support significant gender or TBSA differences in the rate of change of body dissatisfaction trajectories across these two years. Individuals with greater body dissatisfaction at six months post-discharge tended to have higher depressive symptoms at five years. Six month post-discharge body dissatisfaction scores also mediated the effects of gender and TBSA on depressive symptoms five years later.ConclusionsIt is recommended that individuals with heightened body image dissatisfaction after a burn, particularly women and those with larger TBSA, participate in evidence-based psychosocial interventions to improve long-term adjustment.
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Visual Utilization During Postural Control in Anterior Cruciate Ligament Deficient & Reconstructed Patients: Systematic Reviews & Meta-Analyses
Publication date: Available online 5 May 2017
Source:Archives of Physical Medicine and Rehabilitation
Author(s): Erik A. Wikstrom, Kyeongtak Song, Brian G. Pietrosimone, J. Troy Blackburn, Darin A. Padua
ObjectiveTo determine if anterior cruciate ligament deficient (ACL-D) individuals and individuals with a reconstructed anterior cruciate ligament (ACL-R) rely more heavily on visual information to maintain postural control.Data SourcesPubMed, CINAHL, and SPORTDiscus databases were searched from their earliest available date to May 24, 2016 using the combination of key words.Study SelectionArticles were included if they reported any instrumented static single leg balance outcome in both a patient and control sample. The means and standard deviations of these outcomes must have been reported with both eyes open and eyes closed.Data ExtractionSample sizes, means, and standard deviations of single leg balance measures for each group's eyes open and eyes closed testing conditions were extracted. The methodological quality of included studies was independently evaluated by multiple authors using an adapted version of the quality index.Data SynthesisEffect sizes were calculated by dividing the differences in change between eyes closed and eyes open in the ACL-D and control group and the ACL-R and control group by the pooled standard deviation from eyes closed trials for each analysis. Significant differences between the ACL-D and control group (Effect Size=-1.66, 95%CI= -2.90 to -0.41) was noted. The ACL-R and control group were not different (Effect Size=-0.61, 95%CI= -2.17 to 0.95)ConclusionsIndividuals with an ACL-D but not individuals with ACL-R demonstrate a greater reliance on visual information during single leg stance compared to healthy individuals.
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Associations between traumatic brain injury history and future headache severity in Veterans: a longitudinal study
Publication date: Available online 5 May 2017
Source:Archives of Physical Medicine and Rehabilitation
Author(s): Pradeep Suri, Kelly Stolzmann, Katherine M. Iverson, Rhonda Williams, Mark Meterko, Kun Yan, Katelyn Gormley, Terri K. Pogoda
ObjectiveTo determine whether traumatic brain injury (TBI) history is associated with worse headache severity outcomes.DesignProspective cohort study.SettingDepartment of Veterans Affairs (VA) outpatient clinics.Participants2566 Veterans who completed a mail follow-up survey an average of 3 years after a comprehensive TBI evaluation (CTBIE).Main Outcome MeasuresThe presence or absence of TBI, and TBI severity, were evaluated by a trained clinician and classified according to VA/Department of Defense clinical practice guidelines. Headache severity was evaluated at both the baseline CTBIE assessment and 3-year follow-up using a 5-level headache score ranging from 0 ('none') to 4 ('very severe') based on headache-associated activity interference in the past 30 days. We examined associations of mild and moderate/severe TBI history, as compared to no TBI history, with headache severity in cross-sectional and longitudinal analyses, with and without adjustment for potential confounders.ResultsMean headache severity scores were 2.4 at baseline and 2.3 at 3-year follow-up. Mild TBI was associated with greater headache severity in multivariate-adjusted cross-sectional analyses (ß [SE]= 0.61[0.07], p<0.001), as compared to no TBI, but not in longitudinal analyses (ß [SE]= 0.09[0.07], p=0.20). Moderate/severe TBI was significantly associated with greater headache severity in both cross-sectional (ß [SE]= 0.66[0.09], p<0.001) and longitudinal analyses (ß [SE]= 0.18[0.09], p=0.04).ConclusionsHeadache outcomes are poor in Veterans who receive VA TBI evaluations, irrespective of past TBI exposure, but significantly worse in those with a history of moderate/severe TBI. This study found no association between mild TBI and future headache severity in Veterans. Veterans with headache presenting for TBI evaluations, and particularly those with moderate/severe TBI, may benefit from further evaluation and treatment of headache.
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Inside Front Cover - Editorial Board Page/Cover image legend if applicable
Publication date: August 2017
Source:Journal of Environmental Radioactivity, Volume 174
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Special issue of Journal of Environmental Radioactivity on 3rd International Conference on Po and radioactive Pb isotopes
Publication date: August 2017
Source:Journal of Environmental Radioactivity, Volume 174
Author(s): Aysun Uğur Görgün, Mark Baskaran
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Inconsistencies between 14C and short-lived radionuclides-based sediment accumulation rates: Effects of long-term remineralization
Source:Journal of Environmental Radioactivity, Volume 174
Author(s): M. Baskaran, T.S. Bianchi, T.R. Filley
14C is the most widely utilized geochronometer to investigate geological, geochemical and geophysical problems over the past 5 decades. Establishment of precise sedimentation rates is crucial for the reconstruction of paleo-climate, -ecological and – environmental studies when extrapolation of sedimentation rates is utilized for time scales beyond the dating range. However, agreement between short-term and long-term sedimentation rates in anthropogenically unperturbed sediment cores has not been shown. Here we show that the AMS 14C-based long-term mass accumulation rate (MAR) of an organic-rich (>70%) sediment core from Mud Lake, Florida to be ∼5 times lower than the short-term MAR obtained using 239,240Pu, 137Cs and excess 210Pb (210Pbxs). The measured sediment inventories of 210Pbxs, 137Cs and 239,240Pu are comparable to the atmospheric fallout for the sampling site, indicating very little accelerated sediment erosion over the past several decades. Presence of sharp fallout peaks of 239,240Pu indicates very little sediment mixing. The penetration depths of 137Cs and 239,240Pu were found to be much deeper than expected and this is attributed to their post-depositional mobility. MAR calculated using 14C-ages in successive layers also indicated decreasing MARs with depth, and was reflective of progressive remineralization. Using first-order kinetics, the sediment remineralization rate was found to be 4.4 × 10−4 y−1 and propose that over the long-term, remineralization of organic-rich sediment affected the long-term MAR, but not the ratio of 14C/12C. Thus, the MAR and linear sedimentation rate obtained using 14C (and other isotope-based methods) could be erroneous, although 14C ages may not be affected by such remineralization. Long-term remineralization rates of organic matter has a direct bearing on the biogeochemical cycling of elements in aqueous systems and mass balance of elements needs to be taken into consideration.
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Modelling the relationship between zooplankton biomass and environmental variations in the distribution of 210Po during a one year cycle in northwestern Mediterranean coastal waters
Source:Journal of Environmental Radioactivity, Volume 174
Author(s): Jaime Färber Lorda, Yutaka Tateda, Scott W. Fowler
To clarify the relationship between zooplankton biomass and the environmental kinetics of the natural radionuclide 210Po during a one-year period (October 1995 to November 1996) in northwestern Mediterranean coastal waters, a modelling analysis was applied. Using 210Po concentrations in seawater and zooplankton, the 210Po uptake rate constant from food for zooplankton was evaluated using a biokinetics calculation involving the uptake and the excretion rate constants between seawater and zooplankton. Using the transfer constants obtained, the 210Po concentrations in zooplankton were reconstructed and validated by observed concentrations. The simulation results were in good agreement with the measured 210Po concentrations in zooplankton. Assuming that 210Po fecal excretion represents the majority of the excretion of 210Po from zooplankton, the fecal matter associated 210Po vertical flux was calculated, and compared with the observed vertical fluxes of 210Po measured in sediment traps. The modelling evaluation showed that fecal pellet vertical transport could not fully explain the observed sinking fluxes of particulate organic matter at 150 m depth, suggesting that other sinking biodetrital aggregates are also important components of the plankton-derived vertical flux of 210Po.The relationship between 210Po concentration in seawater and that in rain and dry fallout and their potential effect on 210Po concentrations in zooplankton at this location were also examined. A similar, but diphased trend between 210Po in zooplankton and 210Po in rain and dry fallout deposition rate was demonstrated. 210Po concentrations in the dissolved phase of seawater tended to diminish as mean daily rainfall increased suggesting that rain inputs serve as a 210Po dilution mechanism in seawater at this location.
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210Po bioaccumulation and trophic transfer in marine food chains in the northern Arabian Gulf
Source:Journal of Environmental Radioactivity, Volume 174
Author(s): S. Uddin, S.W. Fowler, M. Behbehani, M. Metian
The tendency of 210Po to concentrate in body tissue poses a serious concern of radiological safety. This study compiles available information and presents recent 210Po data for the marine food web in the northern Gulf waters. Since 210Po is concentrated in marine biota, a large number of samples of various marine organisms covering several trophic levels, from microalgae to sharks, were analyzed. 210Po was found to be highly concentrated in several marine species with the highest 210Po concentrations found in yellowfin tuna, i.e. 37.3–44.9, 451–548, and 1511–1693 Bq kg−1 wwt in muscle, digestive system and liver, respectively. In most dissected fish samples, 210Po showed increasing concentrations in the following order: edible tissue, gills, digestive system, liver and fecal matter. Fish feces had 210Po concentrations several orders of magnitude higher than that in seawater, fish muscle, and the fishes' ingested food. The high 210Po concentration in fish fecal matter suggests that the bulk of 210Po content in fish is eventually excreted back into the environment as fecal pellets. In most fish high concentrations were noted in liver, with the highest 210Po concentration recorded in yellowfin tuna liver. Moreover, 210Po concentration in the soft tissue of tunicate and bryozoan samples were 872–1012 and 402–527 Bq kg−1 wwt, respectively, far higher than that in fish muscle (0.04–44.9 Bq kg−1 wwt). It was observed that the maximum 210Po concentration in edible fish tissue among the fish in trophic level 2 was an order of magnitude lower than those in trophic level 3 and two orders of magnitude lower compared to fish in trophic level 4. The highest concentrations in the muscle tissue were observed in the following order: tunicate > bryozoan > mollusc > crustacean > algae > fish. Among all the biota analyzed, the highest overall concentration of 210Po was noted in yellowfin tuna (Thunnus albacores) indicating a potential biomagnification of 210Po in this particular top predator species. In general, 210Po concentrations found in the commercially important fish from Kuwaiti waters were comparable to levels that have been reported for similar fish species from several other marine areas worldwide.
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Accumulation of 210Po in coastal waters (Gulf of Trieste, northern Adriatic Sea)
Source:Journal of Environmental Radioactivity, Volume 174
Author(s): Jadran Faganeli, Ingrid Falnoga, Ljudmila Benedik, Zvonka Jeran, Katja Klun
The total activity of 210Po was determined by alpha-spectrometry in various samples (matrices) collected in the Gulf of Trieste (northern Adriatic Sea) where fresh water inflows, especially from the Isonzo River in the northern part, affect water quality. Observed 210Po levels were: 1) 0.56–3.75 mBq/L in the dissolved phase (<0.45 μm) in the seawater column and local rivers, 2) 0.35–3.11 mBq/L (400–2300 Bq/kg, dry weight, dw) in suspended particulate matter (SPM, 0.45–20 μm) in the seawater column and local rivers, 3) 40 (Isonzo River) −158 Bq/kg (in a surface sediment cores collected in a NS transect in the gulf and sectioned to the depth of 20 cm) and 4) 239 (autumn) – 415 to 1800 (spring) Bq/kg (dw) in meso(zoo)plankton (>200 μm). In seawater and tributaries, up to 80% (mean 49%) of total 210Po was found in particulate form. In sediments, slightly higher levels were encountered in the Isonzo prodelta and in the central (depocenter) part of the gulf. KD (L/kg) calculated between seawater and SPM, and seawater and sediment amounted to about 5 × 106 and 6 × 104, respectively. Lower autumn 210Po levels can be a consequence of biological dilution by higher mesozooplankton biomass in the autumn compared to spring. Plankton fractionation revealed in general the highest levels in the >200 μm mesoplankton fraction (239–1800 Bq/kg) followed by 50–200 μm (388–996 Bq/kg) and 20–50 μm (318–810 Bq/kg) microplankton fractions. Obtained data show higher 210Po levels in all matrices analyzed in the Gulf of Trieste compared to other Adriatic (central Adriatic) and western Mediterranean areas. The 210Po/210Pb ratios in water, plankton and sediments were mostly below or around 1, while this ratio was much higher at higher trophic levels (up to about 50), reflecting a preferential bioaccumulation of 210Po over 210Pb. 210Po accumulation between seawater and SPM and seawater and mesozooplankton amounted to 3.7 × 104 and 1.1 × 104, respectively, similar to other Adriatic areas. Comparison of the relative importance of pelagic and benthic bioaccumulation pathways, excluding the filter feeder bivalves, suggests greater accumulation in pelagic-feeding species.
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Sinking fluxes of 210Pb and 210Po in the deep basin of the northern South China Sea
Source:Journal of Environmental Radioactivity, Volume 174
Author(s): Ching-Ling Wei, Chao-Yuan Chia, Wen-Chen Chou, Wen-Huei Lee
Vertical fluxes of total mass (Fmass), particulate organic carbon (FPOC), particulate inorganic carbon (FPIC), 210Pb (FPb-210), and 210Po (FPo-210) were determined by sediment traps deployed at two depths, 2000 m and 3500 m, at SEATS (South East Asian Time-series Study, 116°00°E, 18°00°N) in the northern South China Sea during June 2008–June 2009. The Fmass ranges from 12.2 to 55.1 mg m−2 d−1 and from 89.3 to 250.8 mg m−2 d−1, at 2000 m and 3500 m, respectively, and shows seasonal and inter-annul variation. The temporal variation of FPOC, FPIC, and FPb-210 were in phase with the Fmass, which was coupled with the seasonal cycles of primary production in the euphotic layer. The FPb-210 ranges from 5 to 48 dpm m−2d−1 and from 38 to 105 dpm m−2d−1, at 2000 m and 3500 m, respectively. Contrasting with 210Pb, the FPo-210 shows poor correlation with Fmass. The FPo-210 ranges from 3 to 146 dpm m−2d−1 and from 50 to 309 dpm m−2d−1, at 2000 m and 3500 m, respectively. Episodic events of the settling of biological particles from the surface layer and the regeneration processes the deep layer control the 210Po removal in the water column of the South China Sea. Strong correlations of the flux and source ratio of 210Pb, (F/P)Pb-210, and the particulate carbon fluxes were found, which give relationships of FPOC (μg cm−2y−1) = 26.8 + 371.0 (F/P)Pb-210 and FPIC (μg cm−2y−1) = −1.4 + 533.1 (F/P)Pb-210.
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210Po and 210Pb disequilibrium at the PN section in the East China Sea
Source:Journal of Environmental Radioactivity, Volume 174
Author(s): Kaijun Su, Jinzhou Du, Mark Baskaran, Jing Zhang
Lead-210 and 210Po have been widely used as tracers for quantifying particulate scavenging in the upper layer of the oceanic water column. In this study, we investigated the 210Po/210Pb disequilibrium in the water column of the PN section in the East China Sea (ECS) during autumn 2013. In most of the water column, a deficiency of 210Po was observed with respect to its parent nuclide 210Pb (i.e., a 210Po/210Pb activity ratio < 1.0). The (210Po/210Pb)dissolved, (210Po/210Pb)particulate and (210Po/210Pb)total activity ratios ranged from 0.29 to 0.71 (average: 0.53 ± 0.13, n = 27), 0.31 to 1.42 (average: 0.70 ± 0.27, n = 27) and 0.22 to 0.62 (average: 0.50 ± 0.12, n = 27), respectively. The distribution coefficients (Kd) of 210Po and 210Pb were 12.1× 104 ml g−1 and 8.8× 104 ml g−1, with an average (210Po/210Pb) total activity ratio of (0.50 ± 0.12, n = 27). However, over the continental shelf, planktonic detritus and fecal pellets appear to be the main carriers for 210Po, which preferentially scavenges 210Po and produces a lower (210Po/210Pb) total activity ratio (0.49 ± 0.12, n = 22) with a Kd for 210Po of 13.8× 104 ml g−1 in the water column. The variations in the fractionation factor (1.48 ± 0.66) of 210Po/210Pb reveal distinct differences between the distribution and scavenging of 210Po and 210Pb by particulate matter in different marine environments: in the estuarine zone (a high turbidity area), terrigenous suspended particulate matter scavenges 210Pb from the water column, while in areas dominated by biogenic particular matter, 210Po is preferentially scavenged from the water column. Using the 210Po/210Pb disequilibrium in the water column, we estimated the removal fluxes of POC from the upper waters downward to be 25.0 mg C m−2 d−1, comparable to those in other marginal seas. Moreover, a decreasing trend of POC removal fluxes was observed with increasing distance offshore.
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Association between radionuclides (210Po and 210Pb) and antioxidant enzymes in oak (Quercus coccifera) and mastic tree (Pistacia lentiscus)
Source:Journal of Environmental Radioactivity, Volume 174
Author(s): A. Uğur Görgün, E. Aslan, M. Kül, S. İlhan, G. Dimlioğlu, M. Bor, F. Özdemir
The activity levels of naturally occurring radionuclides Polonium-210 and lead-210 in different subjects including plant species have direct or indirect impact on human beings. High levels of ionising radiation cause oxidative stress and the interaction between antioxidative defense and radionuclides is not well established in plant systems. In this study, we aimed to understand the impact of oxidative stress caused by 210Po and 210Pb in two Mediterranean plants; Quercus coccifera and Pistacia lentiscus. We analysed the constitutive and seasonal levels of 210Po, 210Pb, lipid peroxidation levels, superoxide dismutase (SOD) and ascorbate peroxidase (APX) activities in the field-collected samples. The highest activity concentrations of 210Po and 210Pb were detected in both plants in summer and Q. coccifera had higher levels than that of P. lentiscus. SOD and APX activity trends were different between oak and mastic; as compared to P. lentiscus, Q. coccifera efficiently used the two major components of antioxidative defense. Lipid peroxidation levels were low in both plants in all seasons except that of spring which were in good agreement with high antioxidant enzyme activities. In conclusion, we found that high 210Po and 210Pb activity concentrations in oak and mastic did not interfere with their growth and life cycles. The ability of both plants for survival and adaptation to Mediterranean environmental constraints provided an additional advantage for coping radionuclide induced oxidative stress as well.
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Pb-210 and fly ash particles in ombrotrophic peat bogs as indicators of industrial emissions
Source:Journal of Environmental Radioactivity, Volume 174
Author(s): Taavi Vaasma, Helen Karu, Madis Kiisk, Margus Pensa, Kadri Isakar, Enn Realo, Tiiu Alliksaar, Alan Henry Tkaczyk
Peat cores were collected from a Sphagnum-dominated Selisoo bog, which is located about 40 km from the large oil shale-fired power plants (PPs) in Estonia. These PPs have been operational from the 1960's and had the largest negative impact on the surrounding environment during the 1970's and 1980's. Nearby ombrotrophic peatlands are good indicators of atmospheric pollution due to their properties of effectively adsorbing mineral matter and pollutants. Collected peat cores (S1 and S2) from Selisoo peat bog were sliced into 1 cm thick layers and measured gamma spectrometrically. In addition, spherical fly ash particles (SFAP) originating from the combustion of the PPs were counted. The maximum concentrations (particles per cm3) of the SFAP remained between 7 and 12 cm for core S1 and between 11 and 17 cm for core S2. The concentration profiles of the SFAP reflect the combustion and emission history of the PPs. Pb-210 activity concentrations have the maximum values up to 500 Bq kg−1 and 413 Bq m−2 for S1 and for the S2 the values are 441 Bq kg−1 and 535 Bq m−2 (dry weight). The unsupported 210Pb inventory is around 4250 Bq m−2. This represents a 210Pb deposition flux of 133 Bq m−2 y−1. The estimated 210Pb deposition via fly ash from the PPs at Selisoo area remains between 0.2 and 2.2 Bq m−2 y−1. Considering the annual 210Pb deposition from the atmosphere (with a precipitation rate of 600 mm y−1) between 92 and 133 Bq m−2, which is regarded as the natural background value, we show that the radiological burden due to the power plants at these distances is negligible. As the peat cores exhibit noticeable differences from each other (in terms of radionuclide concentration distribution), the SFAP can provide a good additional parameter to improve the validity of results obtained only from radiometric methods in the chronological studies. SFAP can also act as a possible tool to estimate the radionuclide deposition rate via fly ash in the vicinity of the PPs.
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A de novo missense mutation in SLC12A5 found in a compound heterozygote patient with epilepsy of infancy with migrating focal seizures
Abstract
Epilepsy of infancy with migrating focal seizures (EIMFS) is an infantile epileptic encephalopathy characterized by refractory seizures, severe psychomotor delay, and multiple moving epileptic discharges. The genetic etiology of EIMFS is relatively homogeneous with the majority of causative mutations found in KCNT1. Currently, gene panel or whole-exome sequencing is used for testing. To verify the pathogenicity of a variant, co-segregation of the variant and the disorder in a pedigree is important; hence, de novo mutations that are judged to be deleterious may be considered pathogenic because the patients are isolated. In contrast, in cases from non-consanguineous families, genes that cause disorders in a recessive manner should remain as potential candidates. Herein, we performed gene panel sequencing of a patient with EIMFS from a non-consanguineous family, and found a compound heterozygous constellation consisting of a maternally inherited p.Ser399Leu and a de novo p.Arg880Leu in SLC12A5, which encodes the neuronal KCC2 co-transporter. These unique mutations demonstrate gene variants that act in a recessive manner may be pathogenic for patients from non-consanguineous families.
Graphical Abstract
Identification of a novel compound heterozygous constellation (c.[1196C > T(;) 2639G > T]:p.[p.Ser399Leu(;) p.Arg880Leu]) in SLC12A5, which consisted of a maternally inherited mutation (p.Ser399Leu) and a de novo mutation (p.Arg880Leu), in a patient with epilepsy of infancy with migrating focal seizures from a non-consanguineous family.
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Validity of different tools to assess sleep bruxism: a meta-analysis
Summary
This systematic review and meta-analysis (MA) aimed to evaluate the diagnostic validity of questionnaires, clinical assessment, and portable diagnostic devices compared to the reference standard method polysomnography (PSG) in assessing sleep bruxism (SB). Two reviewers searched electronic databases for diagnostic test accuracy studies that compared questionnaires, clinical assessment or portable diagnostic devices for SB, with the reference standard method PSG, comprising previous studies from all languages and with no restrictions regarding age, gender or time of publication. Of the 351 articles, eight met the inclusion criteria for qualitative, and seven for quantitative analysis. The methodology of selected studies was evaluated using the Quality Assessment Tool for Diagnostic Accuracy Studies (QUADAS-2). The studies were divided and analysed over three groups: three studies evaluating questionnaires, two regarding the clinical assessment of tooth wear, and three covering portable diagnostic devices. The MA indicated that portable diagnostic devices showed the best validity of all evaluated methods, especially as far as a four-channel EMG/ECG recording is concerned. Questionnaires and the clinical assessment can be used as screening methods to identify SB individuals, although it is not that good in identifying subjects without SB. The quality of evidence identified through GRADEpro, was from very low to moderate, due to statistical heterogeneity between studies.
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