Πέμπτη, 2 Ιουνίου 2016

Thoracoscopic removal of an intrapulmonary foreign body in a child

Abstract

A 9-year-old boy presented to our institution 6 months after falling on a needle that pierced his left chest wall. He presented to us after multiple unsuccessful attempts to have this foreign body removed at other hospitals. A thoracoscopic removal was successfully undertaken aided by fluoroscopy. This report shows how the needle's position and location were precisely defined by fluoroscopy, despite the needle being invisible on thoracoscopy.



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The use of statistical methods for censored data to evaluate the activity concentration of Pb-210 in beans (Phaseolus vulgaris L.)

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Publication date: October 2016
Source:Journal of Environmental Radioactivity, Volumes 162–163
Author(s): Raquel M. Mingote, Regina A. Nogueira
A survey of 210Pb activity concentration, one of the major internal natural radiation sources to man, has been carried in the most common species of beans (Phaseolus vulgaris L.) grown and consumed in Brazil. The representative bean types chosen, Carioca beans and black type sown in the Brazilian Midwestern and Southern regions, have been collected in this study and 210Pb determined by liquid scintillation spectrometry after separation with chromatographic extraction using Sr-resin. Available values in data set of radioactivity in Brazil (GEORAD) on the 210Pb activity concentration in black beans grown in Southeastern region have been added to the results of this study with the purpose of to amplify the population considered. Concerning the multiple detection limits and due to the high level of censored observations, a robust semi-parametric statistical method called regression on order statistics (ROS) has been employed to provide a reference value of the 210Pb in Brazilian beans, which amounted to 41 mBq kg−1 fresh wt. The results suggest that the 210Pb activity concentration in carioca beans is lower than in black beans. Also evaluated was the 210Pb activity concentration in vegetable component of a typical diet, which displays lower values than those shown in the literature for food consumed in Europe.



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Chemical distribution of hazardous natural radionuclides during monazite mineral processing

Publication date: October 2016
Source:Journal of Environmental Radioactivity, Volumes 162–163
Author(s): Mostafa M. Hamed, M.A. Hilal, E.H. Borai
It is very important to calculate the radioactivity concentration for low-grade monazite ore (50%) and different other materials produced as results of chemical processing stages to avoid the risk to workers. Chemical processing of low-grade monazite pass through different stages, washing by hydrochloric acid and digested with sulfuric acid and influence of pH on the precipitation of rare earth elements has been studied. The radioactivity concentrations of 238U(226Ra) and 232Th as well as 40K were calculated in crude low-grade ore and found to be 54,435 ± 3138, 442,105 ± 29,200 and 5841 ± 345 Bq/kg, respectively. These values are greatly higher than the exempt levels 25 Bq/kg. After chemical digestion of the ore, the results demonstrated that un-reacted material contains significant radioactivity reached to approximately 8, 13 and 23% for 238U, 232Th and 40K, respectively. The results show that 60% of 232Th are located in the digested white slurry with small portions of 238U and 40K. Most of 238U radioactivity is extracted in the green phosphoric acid which produced from conversion of P2O5 by H2SO4 into phosphoric acid. The average values of the Raeq for monazite ore, un-reacted black precipitate, white precipitate, brown precipitate and crystalline material samples were calculated and found to be 687,095 ± 44,921, 85,068 ± 5339, 388,381 ± 22,088, 313,046 ± 17,923 and 4531 ± 338 Bq/kg, respectively. The calculated values of Raeq are higher than the average world value (it must be less than 370 Bq/kg). Finally the external hazardous, internal hazardous and Iγr must be less than unity. This means that specific radiation protection program must be applied and implemented during monazite processing.

Graphical abstract

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Interstitial 1q23.3q24.1 deletion in a patient with renal malformation, congenital heart disease, and mild intellectual disability

Interstitial deletions including chromosome region 1q23.3q24.1 are rare. Only eight patients with molecularly characterized deletions have been reported to date. Their phenotype included intellectual disability/developmental delay, growth retardation, microcephaly, congenital heart disease, and renal malformations. We report on a female patient with mild developmental delay, congenital heart disease, and bilateral renal hypoplasia in whom an interstitial de novo deletion of approximately 2.7 Mb in 1q23.3q24.1 was detected by array CGH. This is the smallest deletion described in this region so far. Genotype–phenotype comparison with previously published patients allowed us to propose LMX1A and RXRG as potential candidate genes for intellectual disability, PBX1 as a probable candidate gene for renal malformation, and enabled us to narrow down a chromosome region associated with microcephaly. © 2016 Wiley Periodicals, Inc.



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Mulibrey nanism: Two novel mutations in a child identified by Array CGH and DNA sequencing

In childhood, several rare genetic diseases have overlapping symptoms and signs, including those regarding growth alterations, thus the differential diagnosis is sometimes difficult. The proband, aged 3 years, was suspected to have Silver–Russel syndrome because of intrauterine growth retardation, postnatal growth retardation, typical facial dysmorphic features, macrocephaly, body asymmetry, and bilateral fifth finger clinodactyly. Other features were left atrial and ventricular enlargement and patent foramen ovale. Total X-ray skeleton showed hypoplasia of the twelfth rib bilaterally and of the coccyx, slender long bones with thick cortex, and narrow medullary channels. The genetic investigation did not confirm Silver–Russel syndrome. At the age of 5 the patient developed an additional sign: hepatomegaly. Array CGH revealed a 147 kb deletion (involving TRIM 37 and SKA2 genes) on one allele of chromosome 17, inherited from his mother. These results suggested Mulibrey nanism. The clinical features were found to fit this hypothesis. Sequencing of the TRIM 37 gene showed a single base change at a splicing locus, inherited from his father that provoked a truncated protein. The combined use of Array CGH and DNA sequencing confirmed diagnosis of Mulibrey nanism. The large deletion involving the SKA2 gene, along with the increased frequency of malignant tumours in mulibrey patients, suggests closed monitoring for cancer of our patient and his mother. Array CGH should be performed as first tier test in all infants with multiple anomalies. The clinician should reconsider the clinical features when the genetics suggests this. © 2016 Wiley Periodicals, Inc.



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Determinants of sleep disturbances in Rett syndrome: Novel findings in relation to genotype

Rett syndrome is a rare but severe neurological disorder associated with a mutation in the methyl CpG binding protein 2 (MECP2) gene. Sleep problems and epilepsy are two of many comorbidities associated with this disorder. This study investigated the prevalence and determinants of sleep problems in Rett syndrome using an international sample. Families with a child with a confirmed Rett syndrome diagnosis and a MECP2 mutation registered in the International Rett Syndrome Phenotype Database (InterRett) were invited to participate. Questionnaires were returned by 364/461 (78.9%) either in web-based or paper format. Families completed the Sleep Disturbance Scale for Children and provided information on the presence, nature, and frequency of their child's sleep problems. Multivariate multinomial regression was used to investigate the relationships between selected sleep problems, age group, and genotype and linear regression for the relationships between sleep disturbance scales and a range of covariates. Night waking was the most prevalent sleep problem affecting over 80% with nearly half (48.3%) currently waking often at night. Initiating and maintaining sleep was most disturbed for younger children and those with a p.Arg294* mutation. Severe seizure activity was associated with poor sleep after adjusting for age group, mutation type, and mobility. We were surprised to find associations between the p.Arg294* mutation and some sleep disturbances given that other aspects of its phenotype are milder. These findings highlight the complexities of aberrant MECP2 function in Rett syndrome and explain some of the variation in manifestation of sleep disturbances. © 2016 Wiley Periodicals, Inc.



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A new family with an SLC9A6 mutation expanding the phenotypic spectrum of Christianson syndrome

Using targeted next generation sequencing, we have identified a splicing mutation (c.526-9_526-5del) in the SLC9A6 gene in a 9-year-old boy with mild intellectual disability (ID), microcephaly, and social interaction disabilities. This intronic microdeletion leads to the skipping of exon 3 and to an in-frame deletion of 26 amino acids in the TM4 domain. It segregates with cognitive impairment or learning difficulties in other members of the family. Mutations in SLC9A6 have been reported in X-linked Christianson syndrome associating severe to profound intellectual deficiency and an Angelman-like phenotype with microcephaly, absent speech, ataxia with progressive cerebellar atrophy, ophthalmoplegia, epilepsy, and neurological regression. The proband and his maternal uncle both have an attenuated phenotype with mild ID, attention deficit disorder, speech difficulties, and mild asymptomatic cerebellar atrophy. The proband also have microcephaly. The mutation cosegregated with learning disabilities and speech difficulties in the female carriers (mother and three sisters of the proband). Detailed neuropsychological, speech, and occupational therapy investigations in the female carriers revealed impaired oral and written language acquisition, with dissociation between verbal and performance IQ. An abnormal phenotype, ranging from learning disability with predominant speech difficulties to mild intellectual deficiency, has been described previously in a large proportion of female carriers. Besides broadening the clinical spectrum of SLC9A6 gene mutations, we present an example of a monogenic origin of mild learning disability. © 2016 Wiley Periodicals, Inc.



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Early detection of bilateral cataracts in utero may represent a manifestation of severe congenital disease

We observed bilateral cataracts on second trimester ultrasound, in two consecutive pregnancies, with no other structural defects detected. The parents were unrelated and had no family history for the disease. The first pregnancy was terminated in week 22. Copy number variation analysis revealed, in both the aborted fetus and the mother, a 495 kb duplication at 22q11.23 encompassing CRYBB3 and CRYBB2, and not present in variation databases. In the second pregnancy, lens hyperechogenicity was detected by ultrasound at week 13 and 4 days. The identical duplication at 22q11.23 was found in the fetus and considered as possibly pathogenic. At weeks 22 and 30, smaller orbit measurements were elucidated on ultrasound, raising concerns as to the underlying molecular genetic cause, necessitating further investigation. Whole-exome sequencing, using DNA of the first fetus, was performed shortly after the birth of a male child, and two truncating RAB3GAP1 mutations were detected: c.538G>T; p. (Glu180*) and c.943C>T; p. (Arg315*). Neither mutation has been previously reported to be disease-causing; however, evaluation in the context of previously published literature indicated their deleterious nature, implying a clinical diagnosis of Warburg micro syndrome or Martsolf syndrome. Sanger sequencing confirmed segregation of the two mutations within the family, consistent with autosomal recessive inheritance. The child born from the second pregnancy showed features typical of Warburg micro syndrome, with the exception of microcephaly, at age 31 months. © 2016 Wiley Periodicals, Inc.



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Establishing SON in 21q22.11 as a cause a new syndromic form of intellectual disability: Possible contribution to Braddock–Carey syndrome phenotype

A recent study of exome analyses in 109 patients with undiagnosed diseases included a 5-year-old girl with intellectual disability and multiple congenital anomalies, who had an apparently de novo frameshift mutation in SON. However, the combination of the truncating mutation in SON and the phenotype has not been reproduced until date, and it remains unclear if this combination represents a distinctive disease entity. Here we report an additional male with intellectual disability, congenital heart disease, distinctive facial features with curly hair and protruding ears, and long slender extremities, and hyperextensible joints. Exome analysis showed that he had the same de novo frameshift mutation in SON in a heterozygous state. Along with the first and original description of the apparently de novo truncating mutation in SON mentioned above, we have established that haploinsufficiency of SON causes a new recognizable syndrome of intellectual disability. SON is located within 21q22.11, a critical region for Braddock–Carey syndrome, which is characterized by congenital thrombocytopenia, intellectual disability, micrognathia, and a distinctive facies. Therefore, we suggest that the intellectual disability observed in Braddock–Carey syndrome could be accounted for by haploinsufficiency of SON. © 2016 Wiley Periodicals, Inc.



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Achondroplasia: Really rhizomelic?

Achondroplasia is the most common form of short limb dwarfism in humans. The shortening of the limb lengths in achondroplasia is widely described as "rhizomelic." While this appearance may be convincing clinically, the description is not necessarily true or helpful radiologically. The aims of this study, were therefore, to determine whether rhizomelic shortening is a true feature of achondroplasia at diagnosis in infancy. Humeral, radial, femoral, and tibial diaphyseal lengths were recorded by two independent observers from 22 skeletal surveys of infants with achondroplasia and compared with 150 normal age-matched control subjects. Upper and lower limb bone length ratios (radial/humeral and tibial/femoral lengths, respectively) in both groups were compared using an unpaired t-test. Mean upper limb length ratios were statistically higher within the achondroplasia group at 0.87 ± 0.04 (n = 22, mean age 70 ± 94 days) compared to normal controls at 0.79 ± 0.02 (n = 150, mean age 113 days ± 88 days; P < 0.0001). Lower limb length ratios were not significantly different between groups (0.84 ± 0.04 vs. 0.83 ± 0.02, P = 0.46). There was good inter-observer agreement of limb length measurements, with an average measurement difference of 0.1 ± 1.4 mm. In conclusion, infants with achondroplasia demonstrate statistically significant rhizomelic shortening within the upper limbs, but not lower limbs at diagnosis, compared to normal controls. The term "rhizomelic shortening" in relation to achondroplasia should be reserved when describing upper limb proportions. © 2016 Wiley Periodicals, Inc.



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Effects of High-intensity Interval Training and Moderate-intensity Continuous Training on Endothelial Function and Cardiometabolic Risk Markers in Obese Adults

We hypothesized that high-intensity interval training (HIIT) would be more effective than moderate-intensity continuous training (MICT) at improving endothelial function and maximum oxygen uptake (VO2max) in obese adults. Eighteen participants (35.1 ± 8.1 y; BMI = 36.0 ± 5.0 kg/m2) were randomized to eight weeks (3 sessions/week) of either HIIT (10 x 1 min, 90-95% maximum heart rate (HRmax), 1 min active recovery) or MICT (30 min, 70-75% HRmax). Brachial artery flow-mediated dilation (FMD) increased after HIIT (5.13 ± 2.80% vs. 8.98 ± 2.86%, P = 0.02) but not after MICT (5.23 ± 2.82% vs. 3.05 ± 2.76%, P = 0.16). Resting artery diameter increased after MICT (3.68 ± 0.58 mm vs. 3.86 ± 0.58 mm, P = 0.02), but not after HIIT (4.04 ± 0.70 mm vs. 4.09 ± 0.70 mm; P = 0.63). There was a significant (P = 0.02) group x time interaction in low-flow mediated constriction (L-FMC) between MICT (0.63 ± 2.00% vs. -2.79 ± 3.20%; P = 0.03) and HIIT (-1.04 ± 4.09% vs. 1.74 ± 3.46%; P = 0.29). VO2max increased (P < 0.01) similarly after HIIT (2.19 ± 0.65 L/min vs. 2.64 ± 0.88 L/min) and MICT (2.24 ± 0.48 L/min vs. 2.55 ± 0.61 L/min). Biomarkers of cardiovascular risk and endothelial function were unchanged. HIIT and MICT produced different vascular adaptations in obese adults, with HIIT improving FMD and MICT increasing resting artery diameter and enhancing L-FMC. HIIT required 27.5% less total exercise time and approximately 25% less energy expenditure than MICT.



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Aerobic training prevents oxidative profile, improves nitric oxide and vascular reactivity in rats with cardiometabolic alteration

Cardiovascular disease is the major cause of death worldwide; therefore, it is important to understand the natural history of the pathophysiologic process and develop strategies to halt its progression. Thus, this study investigated the protective effect of aerobic training on pathophysiological mechanisms involved in subclinical cardiometabolic alterations in a model with constant exposure to a prejudicial agent. Male Wistar rats were divided into Control group (C), which received drinking water, Fructose group (F), which was fed 10% fructose in drinking water for 10 weeks; Control Training group (CT) and Fructose Training group (FT), in which moderate aerobic training was added in the last 8 weeks of the study. Insulin, triacylglycerol and isoprostane were higher and superoxide dismutase (SOD) was lower in the F group. There was no difference in thoracic aorta histology, but it was seen a decreased vascularization in F group, avoided by training in left ventricle. Regarding vascular function, the F group exhibited increased vasoconstrictory reactivity to phenylephrine. The F group presented impaired vasodilation to acetylcholine. Regarding endothelial nitric oxide synthase (eNOS), the F group presented a lower expression, and phosphorylated eNOS was higher in the trained groups than in their respective control groups. This same pattern was observed for nitric oxide (NO) bioavailability, antioxidants protein expression in aorta, left ventricle and muscle (catalase, SOD and glutathione peroxidase), serum SOD activity and muscle mass. These results suggest that exercise training enhanced the antioxidant pathway and as consequence the eNOS pathway, preventing an impairment in vascular vasodilatory capacity.



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Mechanical and neural function of triceps surae in elite racewalking

Racewalking is a unique event combining mechanical elements of walking with speeds associated with running. It is currently unclear how racewalking technique impacts upon lower limb muscle-tendon function, despite the relevance of this to muscle economy and overall performance. The present study examined triceps surae neuromechanics in 11 internationally competitive racewalkers (age 25±11 years) walking and running on a treadmill at speeds between 4.5 - 13.8 km/h whilst triceps surae fascicle lengths, electromyography and kinematic data were recorded. Cumulative muscle activity required to traverse a unit distance (CMAPD) was calculated for each muscle. Medial gastrocnemius (MG) and soleus fascicle lengths/velocities were determined using an automated tracking algorithm, and muscle-tendon unit lengths were determined. Running was associated with net shortening of muscle fascicles during stance, combined with substantial lengthening of the muscle-tendon unit, implying energy storage in the Achilles tendon. When the same participants racewalked at the same speed, the fascicles shortened (soleus) or lengthened (MG), coinciding with rapid shortening followed by a relatively small increase in muscle-tendon length during stance. Consequently, compared with running at the same speed, racewalking decreased the energy-saving role of the Achilles tendon. Moreover, CMAPD was generally highest in racewalking, implying that in individual muscles, the energy cost of racewalking was higher than running. Together these results suggest that racewalking is neurally and mechanically costly relative to running at a given speed. As racewalking events are typically between 10 and 50 km, neuromechanical inefficiencies that occur with each stride likely result in substantial energetic penalties.



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Cranial anatomy of Paleogene Micromomyidae and implications for early primate evolution

Publication date: July 2016
Source:Journal of Human Evolution, Volume 96
Author(s): Jonathan I. Bloch, Stephen G.B. Chester, Mary T. Silcox
Paleogene micromomyids are small (∼10–40 g) euarchontan mammals with primate-like molars and postcrania suggestive of committed claw-climbing positional behaviors, similar to those of the extant arboreal treeshrew, Ptilocercus. Based primarily on evidence derived from dental and postcranial morphology, micromomyids have alternately been allied with plesiadapiforms, Dermoptera (colugos), or Primatomorpha (Primates + Dermoptera) within Euarchonta. Partial crania described here of Paleocene Dryomomys szalayi and Eocene Tinimomys graybulliensis from the Clarks Fork Basin of Wyoming are the first known for the family Micromomyidae. The cranium of D. szalayi exhibits a distinct, small groove near the lateral extreme of the promontorium, just medial to the fenestra vestibuli, the size of which suggests that the internal carotid artery was non-functional, as has been inferred for paromomyid and plesiadapid plesiadapiforms, but not for Eocene euprimates, carpolestids, and microsyopids. On the other hand, D. szalayi is similar to fossil euprimates and plesiadapoids in having a bullar morphology consistent with an origin that is at least partially petrosal, unlike that of paromomyids and microsyopids, although this interpretation will always be tentative in fossils that lack exhaustive ontogenetic data. Micromomyids differ from all other known plesiadapiforms in having an inflated cochlear part of the bony labyrinth and a highly pneumatized squamosal and mastoid region with associated septa. Cladistic analyses that include new cranial data, regardless of how bullar composition is coded in plesiadapiforms, fail to support either Primatomorpha or a close relationship between micromomyids and dermopterans, instead suggesting that micromomyids are among the most primitive known primates.



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CYP2D6 function moderates the pharmacokinetics and pharmacodynamics of 3,4-methylene-dioxymethamphetamine in a controlled study in healthy individuals.

The role of genetic polymorphisms in cytochrome (CYP) 2D6 involved in the metabolism of 3,4-methylene-dioxymethamphetamine (MDMA, ecstasy) is unclear. Effects of genetic variants in CYP2D6 on the pharmacokinetics and pharmacodynamic effects of MDMA were characterized in 139 healthy individuals (70 men, 69 women) in a pooled analysis of eight double-blind, placebo-controlled crossover studies. In CYP2D6 poor metabolizers, the maximum concentrations (Cmax) of MDMA and its active metabolite 3,4-methylene-dioxyamphetamine were +15 and +50% higher, respectively, compared with extensive metabolizers and the Cmax of the inactive metabolite 4-hydroxy-3-methoxymethamphetamine was 50-70% lower. Blood pressure and subjective drug effects increased more rapidly after MDMA administration in poor metabolizers than in extensive metabolizers. In conclusion, the disposition of MDMA and its effects in humans are altered by polymorphic CYP2D6 activity, but the effects are small because of the autoinhibition of CYP2D6. This is an open-access article distributed under the terms of the Creative Commons Attribution-Non Commercial-No Derivatives License 4.0 (CCBY-NC-ND), where it is permissible to download and share the work provided it is properly cited. The work cannot be changed in any way or used commercially. http://ift.tt/1hexVwJ Copyright (C) 2016 Wolters Kluwer Health, Inc. All rights reserved.

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PharmGKB summary: isoniazid pathway, pharmacokinetics.

No abstract available

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Reply to: survival after long-term isoflurane sedation in critically ill surgical patients.

No abstract available

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Effects of neoadjuvant chemo or chemoradiotherapy for oesophageal cancer on perioperative haemodynamics: A prospective cohort study within a randomised clinical trial.

BACKGROUND: Neoadjuvant chemoradiotherapy might improve oncological outcome compared with chemotherapy after surgery for oesophagus or gastrooesophageal junction cancer. However, radiotherapy may induce cardiovascular side-effects that could increase the risk of perioperative adverse effects and postoperative morbidity. OBJECTIVES: The aim of this study was to compare the perioperative haemodynamics in patients undergoing oesophagectomy following neoadjuvant chemotherapy or chemoradiotherapy for cancer. DESIGN: A prospective single-centre cohort study within a randomised multi-centre trial. SETTING: A Swedish University Hospital from January 2009 to March 2013. PATIENTS: A total of 31 patients (chemotherapy 17, chemoradiotherapy 14) included in a multi-centre trial randomising chemotherapy vs. chemoradiotherapy and operated at Karolinska University Hospital, Huddinge. INTERVENTIONS: Cisplatin and 5-fluorouracil, either with or without concurrent radiotherapy (40 Gy), were given prior to surgery. Cardiac function was assessed with LiDCOplus (LiDCO Ltd, London, United Kingdom), echocardiography, troponin T and N-terminal pro-B-type natriuretic peptide, before, during and after surgery. MAIN OUTCOME MEASURES: The primary outcome was the interaction effect of the neoadjuvant treatment on stroke volume index during the perioperative period. Secondary outcomes were the interaction effects of oxygen delivery index, cardiac index, echocardiography and biochemical markers. RESULTS: The groups were matched regarding comorbidities, but patients in the chemoradiotherapy group were older (66 vs. 60 years P = 0.03). Haemodynamic values changed in a similar way in both groups during the study period. The chemoradiotherapy group had a lower cardiac index before surgery (2.9 vs. 3.4 l min-1 m-2, P = 0.03). On the third postoperative day, both groups displayed a hyperdynamic state compared with baseline, with no increase in troponin T, and a similar increase in N-terminal pro-B-type natriuretic peptide. CONCLUSION: Neoadjuvant chemoradiotherapy for oesophageal or gastrooesophageal junction cancer seems to induce only a marginal negative effect on cardiac function compared with neoadjuvant chemotherapy. This difference did not remain when patients' haemodynamics were challenged by surgery. TRIAL REGISTRATION: ClinicalTrials.gov identifier: NCT01362127. (C) 2016 European Society of Anaesthesiology

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Modulation of Brain Criticality via Suppression of EEG Long-Range Temporal Correlations (LRTC) in a Closed-Loop Neurofeedback Stimulation

Human behavioral and cognitive performance are beset by imperfections. Even in simple tasks, where a subject is instructed to tap with a finger at a fixed interval produce errors, no matter whether the tapping is cued by a metronome (Hennig et al., 2011) or not (Gilden et al., 1995). Fluctuations of tapping errors do not demonstrate a random variation between taps but show temporally correlated patterns that extend up to hundreds of seconds (Gilden et al., 1995). The error time series can be described via a power-law of the frequency spectrum defined by P(f)∝1/f β, where P denotes the power of the frequency component f, while the scaling exponent β refers to the propagation of tapping errors (Gilden et al., 1995).

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Intrauterine exposition to smoking and autonomic nervous system function during sleep

The way sleep development might influence cardiac autonomic control of preterm and term neonates has been a subject of much investigation since the first studies by Curzi-Dascalova and collaborators. It is well known that active sleep differs from quiet sleep by higher indexes of central apneas, faster respiratory and heart rates. Additional findings are, under parasympathetic influence, a lower amplitude of high frequency heart rate variability and, under sympathetic influence, a higher amplitude of low frequency heart rate variability.

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Analgesic efficacy of pregabalin in acute postmastectomy pain: placebo controlled dose ranging study

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We hypothesized that oral administration of a single dose of pregabalin 2 hours before modified radical mastectomy (MRM) would produce dose-related reduction in postoperative opioid consumption.

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Reexpansion pulmonary edema after hepatic hydatid cyst excision

Reexpansion pulmonary edema (RPE) is a rare but well-known complication after thoracocentesis [1]. It usually follows reexpansion of the collapsed lung from pneumothorax or pleural effusion [2]. RPE may be very severe at times and may require extracorporeal membrane oxygenation support for management [3]. We are reporting a case of unilateral pulmonary edema in an elderly who had a huge hydatid cyst of liver causing collapse of predominantly lower lobe of the right lung.

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Pain as the main presenting symptom in a patient with Elizabethkingia infection

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Primary infection in an aortic aneurysm is a rare and difficult condition to treat. It develops mostly in immunocompromised patients. The most reported organisms were Staphylococcus aureus and streptococcus species and less frequently Salmonella [1,2].

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The effect of vigorous running and cycling on serum COMP, lubricin, and femoral cartilage thickness: a pilot study

Abstract

Purpose

Our aim was to investigate lubricin, cartilage oligomeric matrix protein (COMP), and femoral cartilage deformation in response to different biomechanical loading of the knee joint (running vs cycling).

Methods

Serum lubricin and COMP concentrations (enzyme-linked immunosorbent assay), and femoral cartilage thickness (suprapatellar transverse ultrasonography) were determined in 11 male runners (age: 40 ± 6 years; weight: 76 ± 8 kg) and 11 male cyclists (35 ± 12 years; 75 ± 5 kg) at baseline, immediately after, and 30 min after vigorous exercise (time trial: 10-km run or 25-km cycle).

Results

At baseline, lubricin (runners: 104.0 ± 19.8 ng/ml; cyclists: 119.1 ± 23.9 ng/ml) and COMP (runners: 804.1 ± 87.5 ng/ml; cyclists: 693.0 ± 84.7 ng/ml) did not significantly differ; however, vigorous exercise was accompanied by an increase in lubricin (cyclists: 39.4 %; p < 0.05; runners: 56.9 %; p < 0.05) and COMP (cyclists: 32.1 %; p < 0.05; runners: 14.2 %; p = 0.14) that returned toward baseline following 30 min of rest (p < 0.05). No between-group differences were observed for baseline cartilage thickness at the intercondyle notch, medial condyle, and lateral condyle, and vigorous exercise did not result in significant change for either group.

Conclusions

In the absence of ultrasonographic knee cartilage deformation, the response of serum lubricin and COMP following acute vigorous exercise indicates an increase in joint lubrication and cartilage metabolism, respectively, which appears largely independent of exercise modality.



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Sevoflurane anesthetic preconditioning protects the lung endothelial glycocalyx from ischemia reperfusion injury in an experimental lung autotransplant model

Abstract

Purpose

The glycocalyx is a glycoprotein-polysaccaride layer covering the endothelium luminal surface, and plays a key regulatory role in several endothelial functions. Lung ischemia reperfusion (IR) is a clinical entity that occurs in everyday thoracic surgery and causes glycocalix destruction and a florid local and systemic immune response. Moreover, sevoflurane is able to modulate the inflammatory response triggered by IR lung injury. In this study, we evaluated the protective effects of sevoflurane on the pulmonary endothelial glycocalyx in an in-vivo lung autotransplant model in pigs.

Methods

Sixteen Large White pigs underwent pneumonectomy plus lung autotransplant. They were divided into two groups depending on the hypnotic agent received (propofol or anesthetic preconditioning with sevoflurane). Glycocalyx components (syndecan-1 and heparan sulphate), cathepsin B, chemokines (MCP-1, MIP-1, and MIP-2) and adhesion molecules (VCAM and ICAM-1) were measured at four different timepoints using porcine-specific enzyme-linked immunosorbent assay (ELISA) kits.

Results

There were no differences between groups in weight or in surgical and one-lung ventilation time. Greater glycocalyx destruction and higher chemokine and adhesion molecule expression were observed in the group that did not receive sevoflurane. Heparan sulphate and serum syndecan levels were higher in the propofol group (P < 0.0001) after reperfusion, as was cathepsin B activity (P < 0.015). MCP-1, MIP-1, MIP-2, VCAM, and ICAM-1 levels were also higher in the propofol group (P < 0.006).

Conclusion

Sevoflurane preconditioning protects pulmonary glycocalyx and reduces expression of leukocyte chemokines in an in-vivo model of pulmonary IR.



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The efficacy of simultaneous bilateral axillary brachial plexus block under the guidance of neurostimulator or ultrasound: a prospective study

Abstract

Purpose

This study was designed to investigate the risk of local anesthetic toxicity and efficacy of simultaneous bilateral axillary brachial plexus block performed under the guidance of ultrasound or a neurostimulator.

Methods

One hundred and twenty patients who were anesthetized with bilateral axillary plexus block simultaneously between February 2012 and March 2014 were enrolled in the study. The patients were anesthetized under the guidance of a neurostimulator (group N, n = 60) or ultrasound (group U, n = 60). The block performance time, procedure-related pain, adverse events, total and free plasma concentrations of ropivacaine, and other data were recorded. The comparison was analyzed statistically.

Results

The block performance time, and onset of the sensory and motor block, of group N was longer than that of group U (p < 0.001). The procedure-related pain of group N was more serious than that of group U (p < 0.05). The patient satisfaction rate of group U was higher than that of group N (p < 0.05). The total plasma concentrations of ropivacaine in group N were comparable to those of group U, except for the value at 50 min after injection (p < 0.05). The free plasma concentrations of ropivacaine of group N at 5 min were significantly higher than that of group U (p < 0.001). No apparent serious adverse events were observed perioperatively in both groups.

Conclusions

Simultaneous bilateral axillary brachial plexus block guided by neurostimulator or ultrasound in bilateral distal upper extremity surgery seems to have a low risk of local anesthetic toxicity and to be effective. The ultrasound-guided block is superior in terms of providing the same degree of anesthesia with shorter duration, less pain, and faster onset of sensory and motor blockades, which is important in clinical practice.



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Cooperation of erythrocytes with leukocytes in immune response of a teleost Oplegnathus fasciatus

Abstract

The most abundant cell type in the blood of mammals and fish is erythrocyte. Unlike mammalian erythrocyte, fish erythrocyte is nucleated. The functional differentiation of teleost erythrocyte is insufficient compared with that of mammals. Therefore, fish erythrocyte may have different functions from that of mammals. Functional interaction between erythrocyte and leukocyte was confirmed by the cDNA microarray newly constructed in this study to investigate characterization of rock bream erythrocyte. In this study, different immune related genes of erythrocytes were annotated by microarray analysis. Microarray analysis showed that a total of 338 genes were up-regulated in co-cultured erythrocytes with leukocytes by LPS stimulation when comparing to erythrocytes stimulated LPS. Many genes in erythrocyte of rock bream were up-regulated in presence of leukocytes, suggesting that erythrocytes interact with leukocytes to trigger expression of various genes associated with the immune system. Our results provide valuable information that direct and indirect immunological function of fish erythrocyte.



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Gene correction in patient-specific iPSCs for therapy development and disease modeling

Abstract

The discovery that mature cells can be reprogrammed to become pluripotent and the development of engineered endonucleases for enhancing genome editing are two of the most exciting and impactful technology advances in modern medicine and science. Human pluripotent stem cells have the potential to establish new model systems for studying human developmental biology and disease mechanisms. Gene correction in patient-specific iPSCs can also provide a novel source for autologous cell therapy. Although historically challenging, precise genome editing in human iPSCs is becoming more feasible with the development of new genome-editing tools, including ZFNs, TALENs, and CRISPR. iPSCs derived from patients of a variety of diseases have been edited to correct disease-associated mutations and to generate isogenic cell lines. After directed differentiation, many of the corrected iPSCs showed restored functionality and demonstrated their potential in cell replacement therapy. Genome-wide analyses of gene-corrected iPSCs have collectively demonstrated a high fidelity of the engineered endonucleases. Remaining challenges in clinical translation of these technologies include maintaining genome integrity of the iPSC clones and the differentiated cells. Given the rapid advances in genome-editing technologies, gene correction is no longer the bottleneck in developing iPSC-based gene and cell therapies; generating functional and transplantable cell types from iPSCs remains the biggest challenge needing to be addressed by the research field.



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Task-specific ankle robotics gait training after stroke: a randomized pilot study

An unsettled question in the use of robotics for post-stroke gait rehabilitation is whether task-specific locomotor training is more effective than targeting individual joint impairments to improve walking fun...

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Transcriptional control of transglutaminase 2 expression in mouse apoptotic thymocytes

Publication date: Available online 2 June 2016
Source:Biochimica et Biophysica Acta (BBA) - Gene Regulatory Mechanisms
Author(s): Katalin Sándor, Bence Dániel, Bea Kiss, Fruzsina Kovács, Zsuzsa Szondy
Transglutaminase 2 (TGM2) is a ubiquitously expressed multifunctional protein, which participates in various biological processes including thymocyte apoptosis. As a result, the transcriptional regulation of the gene is complex and must depend on the cell type. Previous studies from our laboratory have shown that in dying thymocytes the expression of TGM2 is induced by external signals derived from engulfing macrophages, such as retinoids, transforming growth factor (TGF)-β and adenosine, the latter triggering the adenylate cyclase signaling pathway. The existence of TGF-β and retinoid responsive elements in the promoter region of Tgm2 has already been reported, but the intergenic regulatory elements participating in the regulation of Tgm2 have not yet been identified. Here we used publicly available results from DNase I hypersensitivity analysis followed by deep sequencing and chromatin immunoprecipitation followed by deep sequencing against CCCTC-binding factor, H3K4me3, H3K4me1 and H3K27ac to map a putative regulatory element set for Tgm2 in thymocytes. By measuring eRNA expressions of these putative enhancers in retinoid, rTGF-β or dibutiryl cAMP-exposed thymocytes we determined which of them are functional. By applying ChIP-qPCR against SMAD4, retinoic acid receptor, retinoid X receptor, cAMP response element binding protein, P300 and H3K27ac under the same conditions, we identified two enhancers of Tgm2, which seem to act as integrators of the TGF-β, retinoid and adenylate cyclase signaling pathways in dying thymocytes. Our study describes a novel strategy to identify and characterize the signal specific functional enhancer set of a gene by integrating genome-wide datasets and measuring the production of enhancer specific RNA molecules.



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Fetal alcohol spectrum disorders and assessment of maxillary and mandibular arc measurements

Fetal alcohol spectrum disorders (FASD) comprise a range of physical differences and neurologic deficits from prenatal alcohol exposure. Previous studies suggest that relative maxillary growth deficiency can accompany FASD. Using the Fetal Alcohol Syndrome Epidemiologic Research (FASER) database, we investigated how maxillary and mandibular arcs and the ratio between them differ between FASD and non-FASD individuals. First, we established normative values for maxillary and mandibular arcs and maxillary-to-mandibular arc ratio. In our control group (545 males, 436 females), mean maxillary and mandibular arcs for males/females were 24.98/24.52 cm and 25.91/25.35 cm, respectively. The ratio was 0.9643 and 0.9676 for males and females, respectively. We then evaluated the effect of microcephaly, short stature, and low weight (<10th centile), individually on arcs in controls. Generally, arcs were reduced significantly but the ratio did not differ. We compared our controls to 138 male and 135 female FASD cases. We noted a significant difference in arcs in male and female groups, but not the ratio. We compared non-FAS controls with reduced growth parameters to similar cases with FASD. We did not find a significant difference in arc or ratio measurements. Therefore, we conclude the effect of prenatal alcohol exposure on maxillary and mandibular arc measurements is primarily on overall facial growth and less on asymmetric growth of the maxilla relative to the mandible, at least using this technique. © 2016 Wiley Periodicals, Inc.



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Laparoscopic caudal approach for a small hepatocellular carcinoma located in the paracaval portion of a cirrhotic liver

Abstract

Resection of a tumor located in the paracaval portion of the liver, without sacrificing other parts of the liver, is surgically challenging. Here, we describe using a laparoscopic caudal approach for a small hepatocellular carcinoma located in the paracaval portion. It is the first case using the laparoscopic caudal approach to be reported in the literature. Compared with the conventional approaches, this procedure can minimize both surgical invasiveness and the volume of liver parenchyma to be resected. In addition, the laparoscopic view is suitable for this procedure. The laparoscopic caudal approach can be a safe procedure with minimal invasiveness for a small paracaval tumor, particularly in patients with liver cirrhosis.



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Efficacy of CT-guided localization followed by video-assisted thoracoscopic surgery in children with tiny pulmonary nodules

Abstract

CT-guided localization followed by video-assisted thoracoscopic surgery was performed in three children with pulmonary nodules less than 5 mm in diameter. The patients' respective primary diagnoses were Wilms tumor, hepatoblastoma, and osteosarcoma of the femur. The pulmonary nodules were marked preoperatively by a percutaneously placed hook-wire or dye under CT guidance. Although none of the nodules was grossly detected during the operation, they were correctly resected under the guidance of the hook-wire wound or dye. A histological assessment revealed viable metastatic lesions in the case of hepatoblastoma, completely necrotic lesions in the case of Wilms tumor, and inflammatory nodules in the case of osteosarcoma. CT-guided localization followed by video-assisted thoracoscopic surgery appears to be a beneficial procedure in children with tiny pulmonary nodules.



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CRIPT exonic deletion and a novel missense mutation in a female with short stature, dysmorphic features, microcephaly, and pigmentary abnormalities

Mutations in CRIPT encoding cysteine-rich PDZ domain-binding protein are rare, and to date have been reported in only two patients with autosomal recessive primordial dwarfism and distinctive facies. Here, we describe a female with biallelic mutations in CRIPT presenting with postnatal growth retardation, global developmental delay, and dysmorphic features including frontal bossing, high forehead, and sparse hair and eyebrows. Additional clinical features included high myopia, admixed hyper- and hypopigmented macules primarily on the face, arms, and legs, and syndactyly of 4–5 toes bilaterally. Using whole exome sequencing (WES) and chromosomal microarray analysis (CMA), we detected a c.8G>A (p.C3Y) missense variant in exon 1 of the CRIPT gene inherited from the mother and a 1,331 bp deletion encompassing exon 1, inherited from the father. The c.8G>A (p.C3Y) missense variant in CRIPT was apparently homozygous in the proband due to the exon 1 deletion. Our findings illustrate the clinical utility of combining WES with copy number variant (CNV) analysis to provide a molecular diagnosis to patients with rare Mendelian disorders. Our findings also illustrate the clinical spectrum of CRIPT related mutations. © 2016 Wiley Periodicals, Inc.



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Biallelic CACNA1A mutations cause early onset epileptic encephalopathy with progressive cerebral, cerebellar, and optic nerve atrophy

The CACNA1A gene encodes the transmembrane pore-forming alpha-1A subunit of the Cav2.1 P/Q-type voltage-gated calcium channel. Several heterozygous mutations within this gene, including nonsense mutations, missense mutations, and expansion of cytosine-adenine-guanine repeats, are known to cause three allelic autosomal dominant conditions—episodic ataxia type 2, familial hemiplegic migraine type 1, and spinocerebellar ataxia type 6. An association with epilepsy and CACNA1A mutations has also been described. However, the link with epileptic encephalopathies has emerged only recently. Here we describe two patients, sister and brother, with compound heterozygous mutations in CACNA1A. Exome sequencing detected biallelic mutations in CACNA1A: A missense mutation c.4315T>A (p.Trp1439Arg) in exon 27, and a seven base pair deletion c.472_478delGCCTTCC (p.Ala158Thrfs*6) in exon 3. Both patients were normal at birth, but developed daily recurrent seizures in early infancy with concomitant extreme muscular hypotonia, hypokinesia, and global developmental delay. The brain MRI images showed progressive cerebral, cerebellar, and optic nerve atrophy. At the age of 5, both patients were blind and bedridden with a profound developmental delay. The elder sister died at that age. Their parents and two siblings were heterozygotes for one of those pathogenic mutations and expressed a milder phenotype. Both of them have intellectual disability and in addition the mother has adult onset cerebellar ataxia with a slowly progressive cerebellar atrophy. Compound heterozygous mutations in the CACNA1A gene presumably cause early onset epileptic encephalopathy, and progressive cerebral, cerebellar and optic nerve atrophy with reduced lifespan. © 2016 Wiley Periodicals, Inc.



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Syndromes with supernumerary teeth

While most supernumerary teeth are idiopathic, they can be associated with a number of Mendelian syndromes. However, this can also be a coincidental finding, since supernumerary teeth occur in 6% or more of the normal population. To better define this relationship, we analyzed the evidence for specific associations. We excluded conditions with a single affected patient reported, supernumerary teeth adjacent to clefts or other forms of alveolar disruption (as secondary rather than primary findings), and natal teeth, which can involve premature eruption of a normal tooth. Since, the cause of supernumerary teeth shows considerable heterogeneity, certain findings are less likely to be coincidental, such as five or more supernumerary teeth in a single patient, or locations outside of the premaxilla. We found only eight genetic syndromes with strong evidence for an association: cleidocranial dysplasia; familial adenomatous polyposis; trichorhinophalangeal syndrome, type I; Rubinstein–Taybi syndrome; Nance–Horan syndrome; Opitz BBB/G syndrome; oculofaciocardiodental syndrome; and autosomal dominant Robinow syndrome. There is also suggestive evidence of an association with two uncommon disorders, Kreiborg–Pakistani syndrome (craniosynostosis and dental anomalies), and insulin-resistant diabetes mellitus with acanthosisnigricans. An association of a Mendelian disorder with a low frequency manifestation of supernumerary teeth is difficult to exclude without large numbers, but several commonly cited syndromes lacked evidence for clear association, including Hallermann–Streiff syndrome, Fabry disease, Ehlers–Danlos syndrome, Apert and Crouzon syndromes, Zimmermann–Laband syndrome, and Ellis–van Creveld syndrome. © 2016 Wiley Periodicals, Inc.



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Molecular and phenotypic spectrum of ASPM-related primary microcephaly: Identification of eight novel mutations

Autosomal recessive primary microcephaly (MCPH) is an abnormal proliferation of neurons during brain development that leads to a small brain size but architecturally normal in most instances. Mutations in the ASPM gene have been identified to be the most prevalent. Thirty-seven patients from 30 unrelated families with a clinical diagnosis of MCPH were enrolled in this study. Screening of ASPM gene mutations was performed by targeted linkage analysis followed by direct sequencing. Thirteen protein truncating mutations of the ASPM were identified in 15 families (50%), eight of which were novel mutations. The mutations detected were eight nonsense, four frameshift, and one splice site. Two of these mutations (p.R1327* and p.R3181*) were recurrent and shared similar haplotypes suggesting founder effect. Patients with ASPM mutations had mild to severe intellectual disability and variable degrees of simplified gyral pattern and small frontal lobe. In addition, hypoplasia of corpus callosum (18 patients), mildly small cerebellar vermis (10 patients), and relatively small pons (13 patients) were found in 85.7%, 47.6%, and 61.9%, respectively. Furthermore, one patient had porencephaly and another had a small midline cyst. Epilepsy was documented in two patients (9.5%). Non-neurologic abnormalities consisted of growth retardation (four patients), and co-incidental association of oculo-cutaneous albinism (one patient). Our study expands the mutation spectrum of ASPM. Moreover, the simplified gyral pattern and small frontal lobe together with hypoplastic corpus callosum, small cerebellum and pons enable ASPM mutated patients to be distinguished. © 2016 Wiley Periodicals, Inc.



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Moderate Caffeine Intake and Verbal Memory in Multiple Sclerosis: A Pilot Study

Journal of Caffeine Research , Vol. 0, No. 0.


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