Δευτέρα, 21 Νοεμβρίου 2016

PROGRESSIVE MASSIVE FIBROSIS IN A CASE OF SILICOSIS- A CASE REPORT

2016-11-21T23-12-26Z
Source: International Journal of Current Research and Review
Vishnukanth Govindaraj, Ravindrachary Mulkoju, BallaNagamalli Kumar, Vishal Kumar Chitkeshi, Adimulam Ganga Ravindra.
Aim: Silicosis also known as potters rot is the most common occupational lung disease. People employed in occupations like sandblasting, surface drilling, tunneling, silica flour milling, ceramic making are predisposed to developing silicosis. We report a case of progressive massive fibrosis secondary to silicosis in a stone quarry worker. Case Report: A forty five year old stone quarry worker presented with chronic dry cough and breathlessness. His chest CT showed presence of multiple calcified mediastinal lymphnodes with irregular mass like areas. Based on the occupational exposure and radiographic images, a diagnosis of progressive massive fibrosis due to silicosis was made. Discussion: Pneumoconiosis is group of lung diseases related to occupational exposure to inhaled dust. The most common among pneumoconiosis is silicosis. Based on the amount and duration of exposure the clinical and radiological features of silicosis vary. Progressive massive fibrosis is a potentially fatal stage in complicated silicosis. In a majority of cases, a positive occupational history and radiological features are sufficient to make a diagnosis. Conclusion: There is no specific treatment for silicosis. Avoidance of further exposure, using personal protective measures, periodic medical checkup and strict legislations to protect employees and a system to check compliance should be ensued.


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INVESTIGATION ON THE SOLAR CYCLE SIGNATURE ON THE HADLEY CIRCULATION BASED ON THE INTENSITY AND DURATION OF THE SOLAR CYCLE

2016-11-21T23-12-26Z
Source: International Journal of Current Research and Review
C. Vedavathi, M. Venkat Ratnam, V.V.M. Jagannadha Rao, N. Venkwateswara Rao, and S. VijayaBhaskara Rao.
It is well known that there are profound effects of solar cycle (SC) on the tropical deep convection and hence the atmospheric circulations. However, it is unknown how the intensity and duration of SC is going to affect the circulation patterns. In the present study, the effect of SC on the Hadley circulation (HC) is investigated based on intensity and duration of the SC using ERA-Interim dataset obtained during 1979-2012. Maximum and minimum SC is differentiated based on sunspot number (SSN) with cut-off at >=100 and


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POSTPARTUM ACUTE KIDNEY INJURY: FALLING TREND IN DEVELOPING WORLD

2016-11-21T23-12-26Z
Source: International Journal of Current Research and Review
Nikunj Navadiya, Hina V. Oza, Pallavi Ninama, Hafsa Vohra.
Aims and Objectives: To study epidemiological factors, risk factors, morbidity and mortality among patients in postpartum period having acute kidney injury at a tertiary care centre. Materials and Methods: This is a Retrospective Study based on obstetric patients with oliguria/anuria or referred for high s.creatinine to Civil Hospital, Ahmadabad, Gujarat, India from July 2014 to January 2015. Details of these patients like history, examination and investigation findings were recorded and final data analysis done. Results: All of the patients with postpartum AKI had oliguria/anuria and /or high serum creatinine. Most of the patients were anaemic. Most of the AKI occurred in early (


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RELATIONSHIP OF GRIP AND PINCH STRENGTH TO BODY MASS INDEX AMONG DENTAL PROFESSIONALS - CROSS SECTIONAL STUDY

2016-11-21T23-12-26Z
Source: International Journal of Current Research and Review
Fazin Abdul Salam, Thangadurai Chinnakalai.
Aim: To determine the relationship of grip and pinch strength to body mass index among dental professionals. Methodology: In this cross sectional study total number of 150 dental professionals, aged 22 to 40 years, who fulfilled selection criteria, were recruited through Purposive sampling. Participants height, weight, body mass index, grip strength, lateral pinch strength, Pad to Pad pinch strength and Tip to Tip pinch strength were then assessed. All measurements were taken by using standardized procedures. The data collected was analyzed by using Pearsons correlation test. Results: The inferential statistics had shown that there was a significant positive correlation between body mass index and grip strength with correlation coefficient (r) value of 0.233 (p = 0.004), body mass index and lateral pinch strength with of r value 0.259 (p value = 0.01), body mass index and pad to pad pinch strength with r value of 0.209 (p value = 0.05), body mass index and tip to tip pinch strength with r value of 0.169(p value = 0.05). Conclusion: The study shows that there is a significant weak positive correlation between body mass index and Grip strength, body mass index and lateral pinch strength, body mass index and pad to pad pinch strength & body mass index and tip to tip pinch strength.


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TREND IN EXTRAPULMONARY TUBERCULOSIS WITH SPECIAL REFERENCE TO LYMPH NODES-A FIVE YEARS STUDY

2016-11-21T23-12-26Z
Source: International Journal of Current Research and Review
Pammy Sinha, K. Sivakami, R. Thamilselvi.
Introduction: Tuberculosis is still one of the most frequently occurring infectious diseases worldwide. The term extrapulmonary tuberculosis has been used to describe the isolated occurrence of TB at body sites other than the Lung. In India extrapulmonary tuberculosis comprises 20% of all cases of tuberculosis. Aim & Objective: To study the clinicomorphological pattern of lymphnode pathology. Material & Methods: Our study is a retrospective analysis of all lymphnode excision cases received in the Department of Pathology for a period of 5 years (January 2007 to December 2011). Result: We received a total of 98 cases, of which 36 were tubercular lymphadenitis. Maximum number of cases was in the age group of 22-31 years and females outnumbered males. Conclusion: Cervical group of lymphnodes were most commonly involved and cases w ere at peak in 2011 after which it reduced.


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CLINICAL STUDY OF CONTEMPORARY PATTERN AND OUTCOME OF HYPERTENSION IN PREGNANCY AMONG PRIMIPAROUS AND MULTIPAROUS WOMEN IN A TERTIARY CARE CENTRE

2016-11-21T23-12-26Z
Source: International Journal of Current Research and Review
Renukadevi B., Kavitha G., Rathna Ramamurthy, Raja rajeshwari.
Introduction: Hypertension complicates 10% of all pregnancies. Various adverse outcomes of hypertension in pregnancy include antepartum hemorrhage, postpartum hemorrhage, acute renal and hepatic failure, maternal death, preterm birth, intrauterine growth retardation, and neonatal death. Despite various screening tools, there is high prevalence of hypertension in pregnancy and its related complications. Periodical analysis such cases are of utmost importance as it may help in early identification of the problem and measures to prevent its complications. Objectives: The objectives of this study is to identify the difference in pattern of hypertension in primiparous and multiparous women and its maternal and fetal outcomes and differences in lab parametersin both groups. Methodology: This was a retrospective study conducted among 88 women with hypertension and /or proteinuria complicating pregnancy who were admitted for delivery in the department of obstetrics and gynaecology, Velammal Medical College over a period of 1 year (Aug 2015 July 2016). The data were collected from the patients records. The patients were divided into two groups, primiparous and multiparous. The data were collected in terms of age, parity, gestational age, mode of delivery, birth weight of baby and complications. The results were statistically analysed with IBM SPSS statistics software 23.0 version. Results: The frequency of hypertensive disorders of pregnancy was 11.6 % in our study. The prevalance of eclampsia was 0.7%. The mean gestational age of babies was 39 weeks and 36 weeks in mild and severe preeclampsia in primiparous women and 37.5 and 34.2 weeks in multiparous women. The mean platelet count in mild and severe cases were 2.5 and 1.8 lakhs/cu mm in primiparous and 2.4 and 1.9 lakhs/cu mm in multiparous women. Conclusion: Though the prevalence of hypertension in primiparous women is more, the prevalence of severe preeclampsia in more common in multiparous women. Almost all cases of eclampsia occurred in primiparous women. A different pathophysiology could be a cause of hypertension in pregnancy in primiparous and multiparous women, as implied by significant differences in both groups.


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OBJECTIVE ASSESSMENT OF PHYSIOLOGIC AGEING CHANGES BY PATTERN REVERSAL VISUAL EVOKED POTENTIALS

2016-11-21T23-12-26Z
Source: International Journal of Current Research and Review
Sangeeta Gupta, Gaurav Gupta.
Background: Impairment of visual information processing is one of the profound physiologic effects of ageing. Visual evoked potentials can record electrophysiological alterations in the visual pathways that can occur due to ageing and the nature of the impact in the older adults can be evaluated. Rapidly increasing size of the older population further emphasizes the acquisition of the data for this proportion of population optimizing the clinical evaluation in this group. Methods: Pattern-reversal visual evoked potentials (PRVEP) were recorded in 120 healthy subjects in the age-group of 20-80 years (60 males and 60 females). Mean P100 latencies and N75-P100 amplitudes were compared in different age-groups by one way ANOVA. Correlations of latencies and amplitudes with age were performed using Pearson correlation coefficient. Gender differences were studied by unpaired t test. P value


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{alpha}1D-Adrenoceptor blockade increases voiding efficiency by improving external urethral sphincter activity in rats with spinal cord injury

Ideal therapy for lower urinary tract dysfunction in patients with spinal cord injury (SCI) should decrease detrusor overactivity, thereby promoting urine storage at low intravesical pressure and promoting efficient voiding at low pressure by decreasing detrusor-sphincter dyssynergia. Here we investigated blockade of various α-adrenoceptors to determine the subtype that was principally responsible for improving the voiding dysfunction. The effects of the intravenous α-blocker naftopidil, the α-blocker BMY 7378, and the α-blocker silodosin were evaluated using cystometrography and external urethral sphincter-electromyography (EMG) in decerebrated, unanesthetized female Sprague-Dawley rats with chronic SCI following transection at Th8. Parameters measured included the voided volume, residual volume, voiding efficiency, and burst and silent periods on EMG. Compared with values in decerebrated non-SCI rats, EMG of decerebrated SCI rats revealed more prominent tonic activity, significantly shorter periods of bursting activity, and a reduced ratio of the silent to active period during bursting. Compared with the value before drug administration (control), the voiding efficiency was significantly increased by naftopidil (1 and 3 mg/kg) (<0.05 each), and the burst (<0.01 and <0.05, respectively) and silent periods (<0.01 each) on EMG were significantly lengthened. BMY 7378 (1 mg/kg) significantly increased voiding efficiency and lengthened the burst periods (<0.05 each). Silodosin did not affect any parameters. These results suggest that α-blockade reduces the urethral resistance associated with detrusor-sphincter dyssynergia, thus improving voiding efficiency in SCI rats.



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Vagal afferent activation induces salivation and swallowing-like events in anesthetized rats

The aim of this study was to clarify the effect of vagal afferent activation on salivation and swallowing-like events. Salivation is part of a reflex induced by stimulation of the oral area during feeding or chewing. Recently, we reported that nausea induced by gastroesophageal reflux (GER) activation produced salivation and swallowing in humans. Here, we investigated the ability of visceral sensation to enhance salivation and swallowing in rodents in order to inform the mechanism of GER-mediated stomatognathic activation. First, we administered LiCl to anesthetized male rats to induce nausea. LiCl significantly increased salivation and increased the activity of the vagal afferent nerve. Next, we simultaneously recorded salivation and swallowing using an electrode attached to the mylohyoid muscle during vagal afferent stimulation in a physiological range of frequencies. Vagal afferent stimulation significantly increased salivation and swallowing-like events in a frequency-dependent manner. A muscle relaxant, vecuronium bromide, diminished the swallowing-like response but did not affect salivation. These results indicate that visceral sensation induces salivation and swallowing-like events in anesthetized rodents through vagal afferent activation.



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The role of proximal versus distal stomach resection in the weight loss seen after vertical sleeve gastrectomy

The mechanisms involved in the weight loss seen after vertical sleeve gastrectomy (VSG) are not clear. The rat stomach has two morphologically and functionally distinct proximal and distal parts. The rat model for VSG involves complete removal of the proximal part and 80% removal of the distal part along the greater curvature. The purpose of this study was to understand the potential independent contributions of removal of these distinct gastric sections to VSG outcomes. We prepared four surgical groups of male Long-Evans rats: VSG, sham surgery (control), selective proximal section removal (PR), and selective distal section removal (DR). Gastric emptying rate (GER) was highest after VSG compared with all other groups. However, PR, in turn, had significantly greater GER compared with both DR and sham groups. The surgery-induced weight loss followed the same pattern with VSG causing the greatest weight loss and PR having greater weight loss compared with DR and sham groups. The results were robust for rats fed regular chow or a high-fat diet. Body mass analysis revealed that the weight loss was due to the loss of fat mass, and there was no change in lean mass after the surgeries. In conclusion, removal of the proximal stomach contributes to most, but not all, of the physiological impact of VSG.



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Hormone phase influences sympathetic responses to high levels of lower body negative pressure in young healthy women

We tested the hypothesis that sympathetic responses to baroreceptor unloading may be affected by circulating sex hormones. During lower body negative pressure at –30, –60, and –80 mmHg, muscle sympathetic nerve activity (MSNA), heart rate, and blood pressure were recorded in women who were taking (n = 8) or not taking (n = 9) hormonal contraceptives. All women were tested twice, once during the low-hormone phase (i.e., the early follicular phase of the menstrual cycle and the placebo phase of hormonal contraceptive use), and again during the high-hormone phase (i.e., the midluteal phase of the menstrual cycle and active phase of contraceptive use). During baroreceptor unloading, the reductions in stroke volume and resultant increases in MSNA and total peripheral resistance were greater in high-hormone than low-hormone phases in both groups. When normalized to the fall in stroke volume, increases in MSNA were no longer different between hormone phases. While stroke volume and sympathetic responses were similar between women taking and not taking hormonal contraceptives, mean arterial pressure was maintained during baroreceptor unloading in women not taking hormonal contraceptives but not in women using hormonal contraceptives. These data suggest that differences in sympathetic activation between hormone phases, as elicited by lower body negative pressure, are the result of hormonally mediated changes in the hemodynamic consequences of negative pressure, rather than centrally driven alterations to sympathetic regulation.



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Molecular Characterization of Methicillin-Resistant Staphylococcus aureus from Outpatients in Northern Japan: Increasing Tendency of ST5/ST764 MRSA-IIa with Arginine Catabolic Mobile Element

Microbial Drug Resistance , Vol. 0, No. 0.


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Issue Information - Editorial Board



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Effect of maternal position on fetal behavioural state and heart rate variability in healthy late gestation pregnancy

Abstract

Background: Fetal behavioural states (FBS) are measures of fetal wellbeing. In acute hypoxemia, the human fetus adapts to a lower oxygen consuming state with changes in the cardiotocograph and reduced fetal activity. Recent studies of late gestation stillbirth described the importance of sleep position in the risk of intrauterine death. We designed this study to assess the effects of different maternal positions on FBS in healthy late gestation pregnancies under controlled conditions. Method: Twenty nine healthy women had continuous fetal ECG recordings under standardized conditions in 4 randomly allocated positions, left lateral, right lateral, supine and semi-recumbent. Two blinded observers, assigned fetal states in 5 minute blocks. Measures of fetal heart rate variability were calculated from ECG beat to beat data. Results: Compared to state 2F, state 4F was less likely to occur when women were semi-recumbent (OR = 0.11 95%CI 0 02, 0. 55), and supine (OR = 0. 27 95%CI 0.07, 1.10).State 1F was more likely on the right (OR = 2.36 95%CI 1.11, 5.04) or supine (OR = 4.99 95%CI 2.41, 10.43) compared to the left. State change was more likely when the mother was semi-recumbent (OR = 2.17 95%CI 1.19, 3.95) or supine (OR = 2.67 95%CI 1.46, 4.85).There was a significant association of maternal position to mean fetal heart rate. The measures of variability (SDNN and RMSSD) were reduced in both semi-recumbent and supine positions. Conclusion: In healthy late gestation pregnancy, maternal position affects FBS and heart rate variability. These effects are likely fetal adaptations to positions which may produce a mild hypoxic stress.

This article is protected by copyright. All rights reserved



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Arterial stiffness in young adult swimmers

Abstract

Purpose

Habitual Aerobic exercise reduces arterial stiffness, but effects of habitual swimming on arterial stiffness are not yet fully understood. Swimming can also increase systolic blood pressure (BP) in normotensive individuals. Accordingly, this cross-sectional study aimed to investigate arterial stiffness in young adult swimmers after considering the influence of BP.

Methods

Participants comprised 41 men (18–21 years), including 15 untrained controls (C), 11 competitive cyclists (aerobic-trained athletes; A), and 15 competitive swimmers (S). Arterial stiffness was assessed by brachial-ankle pulse-wave velocity (baPWV), heart-ankle pulse-wave velocity (haPWV), and cardio-ankle vascular index (CAVI). CAVI is the measurement of arterial stiffness that is theoretically adjusted by BP.

Results

Although physical characteristics and handgrip strength did not differ between groups, peak oxygen uptake was significantly greater in A and S than in C. A tendency towards higher systolic BP and a significantly higher pulse pressure were found in S as compared to C and A. Most importantly, baPWV was significantly lower in A than in C or S, and no significant difference in baPWV was observed between C and S (C, 1027 ± 25; A, 852 ± 23; S, 1032 ± 24 cm/s). No significant difference in haPWV was observed. However, CAVI was significantly lower in A and S than in C, and did not differ significantly between A and S (C, 5.8 ± 0.2; A, 5.1 ± 0.2; S, 5.3 ± 0.2 unit).

Conclusion

These findings indicate that arterial stiffness in young adult swimmers is lower than in age-matched sedentary controls and similar to land-based aerobic-exercise individuals, after considering the influences of BP.



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De novo transcriptome sequencing of marine-derived Aspergillus glaucus and comparative analysis of metabolic and developmental variations in response to salt stress

Abstract

Aspergillus glaucus HB1-19 is a typical marine-derived fungus preferring the dependence on sea water for its growth, asexual development and polyketides biosynthesis. Therein, salt stress greatly functions even in superior to light illumination, which is also a critical regulation signal for fungi. Here, comparative RNA-seq analysis of this strain was performed under conditions of salt-stress + dark (group A), non salt-stress + dark (group B), salt-stress + light (group C). The RNA-seq generated a total of 19,024 unigenes with an average length of 1415 bp. Differentially expressed genes were very similar between group A and group C but greatly differed between group A and group B, proving that salt stress functioned superior to light illumination globally. Salt stress highly enhanced primary metabolism and activated Ras and MAPK signaling pathways. There seems no direct interaction between asexual development and polyketides biosynthesis. Salt stress inhibited terpenoids biosynthesis but showed little influences on polyketide pathway as well as other secondary metabolism pathways. These findings provide a better understanding of marine fungi adapting to marine environment. Also, it indicates that the so-called 'salt stress-induced' may truly be a 'metal ions-induced' for biosynthesis of secondary metabolites in marine fungi.



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Fatty acids in a high-fat diet potentially induce gastric parietal-cell damage and metaplasia in mice

Abstract

Background

Obesity is associated with risk of adenocarcinoma in the proximal stomach. We aimed to identify the links between dietary fat and gastric premalignant lesions.

Methods

C57BL/6 mice were fed high fat diet (HFD), and gastric mucosa was histologically analysed. Morphological changes were also analysed using an electron microscope. Transcriptome analysis of purified parietal cells was performed, and non-parietal gastric corpus epithelial cells were subjected to single-cell gene-expression profiling. Composition of gastric contents of HFD-fed mice was compared with that of the HFD itself. Lipotoxicity of free fatty acids (FFA) was examined in primary culture and organoid culture of mouse gastric epithelial cells in vitro, as well as in vivo, feeding FFA-rich diets.

Results

During ~8–20 weeks of HFD feeding, the parietal cells of the stomach displayed mitochondrial damage, and a total of 23% of the mice developed macroscopically distinct metaplastic lesions in the gastric corpus mucosa. Transcriptome analysis of parietal cells indicated that feeding HFD enhanced pathways related to cell death. Histological analysis and gene-expression profiling indicated that the lesions were similar to previously reported precancerous lesions identified as spasmolytic polypeptide-expressing metaplasia. FFAs, including linoleic acid with refluxed bile acids were detected in the stomachs of the HFD-fed mice. In vitro, FFAs impaired mitochondrial function and decreased the viability of parietal cells. In vivo, linoleic acid-rich diet, but not stearic acid-rich diet induced parietal-cell loss and metaplastic changes in mice.

Conclusions

Dietary lipids induce parietal-cell damage and may lead to the development of precancerous metaplasia.



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The combination of elbasvir and grazoprevir for the treatment of chronic HCV infection in Japanese patients: a randomized phase II/III study

Abstract

Background

Elbasvir (EBR) in combination with grazoprevir (GZR) has demonstrated efficacy in patients with hepatitis C virus (HCV) infections in trials primarily conducted in the USA and Europe. We investigated the safety and efficacy of EBR in combination with GZR in Japanese patients with chronic HCV infection, with or without cirrhosis.

Methods

The study was conducted in two parts. In part 1, noncirrhotic patients were randomized 1:1 to receive EBR (50 mg) in combination with GZR (50 or 100 mg) once daily for 12 weeks. In part 2, noncirrhotic patients were randomized 3:1 to receive immediate or deferred treatment with EBR (50 mg) and GZR (100 mg, determined in part 1) for 12 weeks; cirrhotic patients received open-label immediate treatment. The primary efficacy end point was the rate of sustained virologic response 12 weeks after completion of the study treatment.

Results

In part 1, 63 patients were randomized to receive EBR in combination with GZR at a dose of 50 mg (n = 31) or 100 mg (n = 32). The SVR12 rates were 100% with GZR at a dose of 50 mg and 96.8% with GZR at a dose of 100 mg. Tolerability was similar in both arms. In part 2, 301 noncirrhotic patients were randomized to receive immediate treatment (n = 227) or deferred treatment (n = 74), and 35 cirrhotic patients were enrolled. The SVR12 rates were 96.5% and 97.1% after immediate treatment in noncirrhotic and cirrhotic patients respectively. Safety was generally similar between immediate and deferred treatment.

Conclusion

Treatment with EBR in combination with GZR for 12 weeks is effective and well tolerated in Japanese patients with chronic HCV infection.

ClinicalTrials.gov identifier

NCT02203149.



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Oral branched-chain amino acid granules improve structure and function of human serum albumin in cirrhotic patients

Abstract

Background and aims

The aim of this study was to evaluate structural and functional alterations of human serum albumin (HSA), with a special focus on the oxidized and reduced forms, in patients with chronic liver disease. We also investigated whether oral branched-chain amino acid (BCAA) supplementation could induce structural changes and improve the functions of HSA.

Methods

The proportion of reduced and oxidized HSA was determined in 16 healthy controls and in 20 chronic hepatitis and 100 cirrhotic patients with stable conditions. To evaluate the functional properties of HSA, this study focused on the antioxidant and binding functions. The radical scavenging activity and binding ability of purified HSA were measured in 68 participants. After BCAA administration for 6 months, 29 patients were evaluated for HSA structural changes, with 19 out of the 29 patients also analyzed for HSA functional changes.

Results

There was a significant decrease in the amounts of reduced HSA in conjunction with liver disease progression. Receiver operating characteristic curve analysis demonstrated that the levels of reduced HSA had high accuracy in determining disease progression. Functional alterations were strongly correlated to the levels of reduced HSA. BCAA supplementation led to substantial increases in the amount of reduced HSA. The altered HSA was able to scavenge significantly more radicals and restore the binding ability.

Conclusion

This study describes structural alterations and functional disturbances of HSA in patients with chronic liver disease, and indicates that the levels of reduced HSA might reflect disease progression and the functional properties of HSA. Moreover, oral BCAA supplementation increases the amount of reduced HSA, thereby leading to the restoration of HSA function in cirrhotic patients.



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Development of a Skill Acquisition Periodisation Framework for High-Performance Sport

Abstract

Unlike physical training, skill acquisition does not currently utilise periodisation to plan, monitor and evaluate programs. Development of a skill acquisition periodisation framework would allow for systematic investigation into the acute and longitudinal effectiveness of such interventions. Using the physical training literature as a reference point, a skill-training periodisation framework was developed for use in high-performance sport. Previous research undertaken in skill acquisition was used to provide support for the framework. The specificity, progression, overload, reversibility and tedium (SPORT) acronym was adopted. Each principle was then re-conceptualised so that it related to relevant skill acquisition principles. Methods for the measurement and analysis of each principle are provided and future directions for the longitudinal assessment of skill acquisition are discussed. The skill acquisition periodisation framework proposed in this study represents an opportunity for the principles relating to skill acquisition training to be measured in a systematic and holistic manner. This can also allow for a more sophisticated evaluation of the efficacy of longitudinal training programmes and interventions designed for sustained skill enhancement.



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Effect of Exercise Training on Non-Exercise Physical Activity: A Systematic Review and Meta-Analysis of Randomized Controlled Trials

Abstract

Background

Many overweight and obese individuals use exercise when attempting to lose weight. However, the improvements in weight and body composition are often far less than expected. Levels of physical activity outside of the structured exercise program are believed to change and may be responsible for the unsuccessful weight loss.

Objective

The purpose of this meta-analysis was to provide a quantitative estimate of the change in non-exercise physical activity (NEPA) during exercise interventions.

Methods

All studies included in the meta-analysis were peer-reviewed and published in English. Participants were randomized to a non-exercise comparison group or exercise training group with an intervention lasting ≥2 weeks. NEPA was measured at baseline and at various times during the study. Hedges' d effect size (ES) was used to adjust for small sample bias, and random-effects models were used to calculate the mean ES and explore potential moderators.

Results

The cumulative results of 44 effects gathered from ten studies published between 1997 and 2015 indicated that NEPA did not change significantly during exercise training (ES = 0.02, 95% confidence interval [CI] −0.09 to 0.13; p = 0.723). Duration of the exercise session (β = −0.0039), intervention length (β = 0.0543), and an age × sex (β = −0.0005) interaction indicated that the increase in NEPA may be attenuated in older women during exercise training and during shorter exercise interventions with longer sessions (all p < 0.005).

Conclusion

On average, no statistically or clinically significant mean change in NEPA occurs during exercise training. However, session duration and intervention length, age, and sex should be accounted for when designing exercise programs to improve long-term sustainability and improve the likelihood of weight loss success, as the initial decrease in NEPA appears to dissipate with continued training.



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Doin' It With the Lights On: Exploits of a Paramedic

Author and paramedic Jim Stine Jr. discusses some of his shocking and rewarding EMS calls he has had over the last 37 years in his new book.

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Remember 2 Things: Children with complex special needs

Steve Whitehead, host of Remember 2 Things, discusses how EMS providers should manage a special needs pediatric patient and gives tips on how to lower your stress level on these calls.

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Increase in spinal deformity patients in patients age 60 and over is not associated with increased complications

Surgical treatment for adult spinal deformity improves patient quality of life; however trends in surgical utilization in the elderly, whom may be at higher risk for complications, remain unclear.

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Technical Description of Oblique Lateral Interbody Fusion at L1-L5 (OLIF25) and at L5-S1 (OLIF51) and Evaluation of Complication and Fusion Rates

The OLIF procedure is aimed at mitigating some of the challenges seen with traditional ALIF and transpsoas LLIF and allows for interbody fusion at L1-S1.

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Mortality and morbidity after spinal surgery in patients with parkinson's disease: a retrospective matched-pair cohort study

There is a lack of information about postoperative outcomes and related risk factors associated with spinal surgery in patients with Parkinson's disease (PD).

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Photoreceptor spectral tuning by colorful, multilayered facet lenses in long-legged fly eyes (Dolichopodidae)

Abstract

The facet lenses of the compound eyes of long-legged flies (Dolichopodidae) feature a striking, interlaced coloration pattern, existing of alternating rows of green-yellow and orange-red reflecting facets, due to dielectric multilayers located distally in the facet lenses (Bernard and Miller. Invest Ophthalmol 7:416–434 (1968). We investigated this phenomenon in the dolichopodid Dolichopus nitidus by applying microspectrophotometry, electron microscopy and optical modeling. The measured narrow-band reflectance spectra, peaking at ~540 and ~590 nm with bandwidth ~105 nm, are well explained by a refractive index oscillating sinusoidally in six periods around a mean value of about 1.44 with amplitude 0.6. The facet lens reflectance spectra are associated with a spectrally restricted, reduced transmittance, which causes modified spectral sensitivities of the underlying photoreceptors. Based on the modeling and electroretinography of the dolichopodid Condylostylus japonicus we conjecture that the green and orange facets narrow the spectral bandwidths of blue and green central photoreceptors, respectively, thus possibly improving color and/or polarization vision.



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Doin' It With the Lights On: Exploits of a Paramedic

Author and paramedic Jim Stine Jr. discusses some of his shocking and rewarding EMS calls he has had over the last 37 years in his new book.

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Remember 2 Things: Children with complex special needs

Steve Whitehead, host of Remember 2 Things, discusses how EMS providers should manage a special needs pediatric patient and gives tips on how to lower your stress level on these calls.

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Quantitative muscle ultrasound as a biomarker in Charcot-Marie-Tooth neuropathy

Therapeutic clinical trials depend on valid markers of disease activity that can reliably monitor disease progression. In slowly progressive disorders such as Charcot-Marie-Tooth disease (CMT), detecting small changes in disease activity and thereby potential responsiveness to therapy, remains challenging. Presently, responsive outcome measures in CMT are lacking. (Lewis et al., 2013)

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Corrigendum to “Abnormal cortical sources of resting state electroencephalographic rhythms in single treatment-naïve HIV individuals: A statistical z-score index” [Clin. Neurophysiol. 127 (2016) 1803–1812]

The authors regret that the full address details for Professor Limatola did not appear in the published article. The updated address has been included as affiliation 'g'.

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Doin' It With the Lights On: Exploits of a Paramedic

Author and paramedic Jim Stine Jr. discusses some of his shocking and rewarding EMS calls he has had over the last 37 years in his new book.

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Remember 2 Things: Children with complex special needs

Steve Whitehead, host of Remember 2 Things, discusses how EMS providers should manage a special needs pediatric patient and gives tips on how to lower your stress level on these calls.

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Doin' It With the Lights On: Exploits of a Paramedic

Author and paramedic Jim Stine Jr. discusses some of his shocking and rewarding EMS calls he has had over the last 37 years in his new book.

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Remember 2 Things: Children with complex special needs

Steve Whitehead, host of Remember 2 Things, discusses how EMS providers should manage a special needs pediatric patient and gives tips on how to lower your stress level on these calls.

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Delta-Beta coupling is associated with paternal caregiving behaviors during preschool

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Publication date: Available online 21 November 2016
Source:International Journal of Psychophysiology
Author(s): Reema Najjar, Rebecca J. Brooker
Neural systems that index self-regulation have been associated with mental health outcomes, including risk for anxiety problems, from early in life. Yet, little is known about the environmental factors that may impact the development of neural systems of regulation. Behavioral work suggests that sensitive parenting, or parents' ability to correctly interpret and respond to children's signals, supports the development of regulation. Conversely, harsh parenting, or uninvolved or punitive parent behaviors, is thought to compromise developing regulatory systems. We recorded preschoolers' baseline electroencephalography (EEG) and tested whether individual differences in delta-beta coupling were linked to sensitive or harsh parenting behaviors in mothers and fathers. Using Fisher's r-to-z transform, we found that preschoolers whose fathers were low (vs. high) in harsh parenting showed greater coupling at parietal electrode sites (z=2.66, p=0.00); preschoolers whose fathers were high (vs. low) in harsh parenting showed greater coupling at frontal electrode sites (z=−2.14, p=0.02). Heightened coupling at frontal electrodes was also visible for children who showed high (vs. low) levels of social fear (z=−2.11, p=0.02), suggesting that enhanced frontal coupling may be associated with increased risk for anxiety problems. No differences in coupling were seen based on levels of sensitive parenting behaviors in mothers or fathers. Results provide initial evidence that harsh parenting behaviors in fathers are associated with differences in a general index of neural regulation in preschoolers, which may have implications for the development of social fear in early life.



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Inside EMS Podcast: Do we manage our patients' pain correctly in EMS?

Download this podcast on iTunes, SoundCloud or via RSS feed

​​In this Inside EMS Podcast episode, co-hosts Chris Cebollero and Kelly Grayson discuss the surgeon general's report on opioid addiction in the U.S. Key takeaways include that addiction is not a character flaw, but more of a mental illness, and how hospitals were incentivized on managing their patients' pain. Kelly also gives an overview of his class on pediatric sedation and pain management.



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Facilitators and Barriers for Successful Implementation of Interconception Care in Preventive Child Health Care Services in the Netherlands

Abstract

Objectives Successful implementation of preconception and interconception care contributes to optimizing pregnancy outcomes. While interconception care to new mothers could potentially be provided by Preventive Child Health Care services, this care is currently not routinely available in the Netherlands. The purpose of this study was to identify facilitators and barriers for implementation of interconception care in Preventive Child Health Care services. Methods We organized four focus groups in which Preventive Child Health Care physicians and nurses, related health care professionals and policymakers participated. A semi-structured interview approach was used to guide the discussion. The transcribed discussions were analyzed. Results All four groups agreed that several facilitators are present, such as the unique position to reach women and the expertise in preventive health care. Identified barriers include unfamiliarity with interconception care among patients and health care providers, as well as lack of consensus about the concept of interconception care and how it should be organized. A broad educational campaign, local adaptation, and general agreement or a guideline for standard procedures were recognized as important for future implementation. Conclusions for practice This study identifies potentially important facilitators and barriers for the implementation of interconception care in Preventive Child Health Care services or comparable pediatric settings. These factors should be considered and strategies developed to achieve successful implementation of interconception care.



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An active principle of Nigella sativa L, thymoquinone, showed significant antimicrobial activity against anaerobic bacteria

2016-11-21T11-12-05Z
Source: Journal of Intercultural Ethnopharmacology
Mohammad Akram Randhawa, Awwad Khalaf Alenazy, Majed Gorayan Alrowaili, Jamith Basha.
Aim/Background: Thymoquinone (TQ) is the major active principle of Nigella sativa seed (Black seed) and is known to control many fungi, bacteria and some viruses. However, the activity of TQ against anaerobic bacteria is not well demonstrated. Anaerobic bacteria can cause severe infections, including diarrhea, aspiration pneumonia and brain abscess, particularly in immune deficient individuals. The present study aimed to investigate the in vitro antimicrobial activity of TQ against some anaerobic pathogens in comparison to metronidazole. Methods: Standard, ATCC, strains of four anaerobic bacteria (Clostridium difficile, Clostridium perfringens, Bacteroides fragilis, and Bacteroides thetaiotaomicron), were initially isolated on special Brucella agar base (With haemin and vitamin K). Then, minimum inhibitory concentrations (MICs) of TQ and metronidazole were determined against these anaerobes when grown in Brucella agar, using serial agar dilution method according to the recommended guidelines for anaerobic organisms instructed by the Clinical and Laboratory Standards Institute (CLSI). Results: TQ showed a significant antimicrobial activity against anaerobic bacteria, although much weaker than metronidazole. MICs of TQ and metronidazole against various anaerobic human pathogens tested were found to be between10-160mg/L and 0.19 to 6.25mg/L, respectively. Conclusions: TQ controlled the anaerobic human pathogenic bacteria, which supports the use of N. sativa in the treatment of diarrhea in folk medicine. Further investigations are in need for determination of the synergistic effect of TQ in combination with metronidazole and the activity of derivatives of TQ against anaerobic infections.


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ETHNOMEDICAL SURVEY AND SAFETY EVALUATION OF TRADITIONAL EYE MEDICINES USED IN MISUNGWI DISTRICT, TANZANIA

2016-11-21T11-12-05Z
Source: Journal of Intercultural Ethnopharmacology
Sheila M. Maregesi, Charles W. Messo, Juma Mathias.
ABSTRACT Aim: This study aimed at documenting products used as Traditional eye medicine (TEM) in Misungwi district, Tanzania and performing preliminary analysis on safety status. Methods: Ethnomedical study was conducted in Misungwi District. Information was sourced by face to face interview with traditional healers, traditional medicine vendors and knowledgeable people guided by a well structured questionnaire. Safety was evaluated by the determining pH using pH meter and mineral analysis using the Delta, Portable XRF equipment and qualitative chemical tests. Results: Twenty three TEM products were recorded from botanical (79%) and zoological (21%) sources including animal excreta. Liquid preparation ranked highest among dosage forms. Safety evaluation showed that only one product possessed the pH value of 7.4 as recommended for topical ophthalmic medicines. Fourteen minerals were detected and quantified in three samples, some of these minerals are known for their negative effects to the eyes, of medical interest is strontium used for the management of benign eye tumors. Information providers were unaware of health risks associated with the use of TEM. Conclusion: This study has revealed the common use of TEM in Misungwi district. Majority of the products are from the botanical source. Literature search provide some data to support the application some of the recorded TEM but, safety evaluation by pH and mineral analysis of some products indicated possible ophthalmological medical problem that could result from using such products. Extensive scientific studies including animal experiments and identification of bioactive compounds are essential to develop safe Traditional Eye Medicines.


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A prospective comparative field study to evaluate the efficacy of a traditional plant-based malaria prophylaxis

2016-11-21T11-12-05Z
Source: Journal of Intercultural Ethnopharmacology
Prakash Bangalore Nagendrappa, Pradeep Annamalai Annamalai, Muruli Naik, Vinay Mahajan, Frederick Gay, Ashwini Mathur, Ghosh Susanta, Padma Venkatasubramanian.
Background: An unceasing threat of resistance of malarial parasites to available antimalarial drugs makes the development of new drugs imperative. Natural plant-based products is an alternative source for discovering new anti-malarial drugs. Aim: To determine the prophylactic efficacy of a traditionally used plant-based drug on prevention of malaria in endemic villages of Odisha, India. Methods: A total of 267 healthy human volunteers of both sexes, aged 18 to 60 years were enrolled in Odisha, India, to receive either minimum 20 doses of aqueous extract of TPMP74 (Traditional Plant-based Malaria Prophylactic drug) twice a week (Experimental group), or no drug (Control group) for 14 weeks. The primary criterion was the occurrence of malaria positive cases confirmed through expert microscopy during the study period. Analyses were by per-protocol and modified intention-to-treat. Results: A significant (p


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Road Rescue commemorates 40 years of innovation and high-quality emergency vehicles

Winter Park, FL. November, 2016 Road Rescue, a leading manufacturer of premium, custom-built, crew-centric ambulances is commemorating its 40th anniversary of providing emergency response vehicles to municipalities across the United States. Road Rescue is a member of the REV Ambulance Group, one of the world's largest and best-positioned independent suppliers of Type I, II and III emergency vehicles ...

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Marathon: The Patriots Day Bombing



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Why EMS should watch 'Marathon: The Patriots Day Bombing'

By Walter Dunbar

Movies are made for entertainment; documentaries are designed to educate. HBO's new documentary film "Marathon: The Patriots Day Bombing" is not a reenactment of the April 15, 2013 Boston Marathon bombing. Instead, the film offers EMS providers, other emergency responders and the public an opportunity to see what a terrorist attack, MCI response, manhunt and the healing process looks like filmed in unprecedented real time and told by those who survived.

I watched the premiere anxiously while surrounded by other first responders, doctors, nurses and the survivor community. The film was an overwhelming success among this tough crowd, because it does not focus on getting knocked down. "Marathon" is about getting back up.

This crowd had been knocked down, but refused to stay down. They gave "Marathon" a standing ovation less than a mile from where three souls perished and hundreds were injured. A standing ovation from survivors with tears in their eyes and prosthetics on their limbs. A standing ovation by the family of MIT officer Sean Collier. "Marathon" earned our respect.

The Boston Marathon attracts worldwide media attention every year. What started out as normal television coverage of the runners and enthusiastic crowd, unfortunately transformed into live coverage of a terrorist attack at the finish line.

Survival, support and rehabilitation
"Marathon" captures the chaos of the explosions, plays the radio traffic, shows the injuries and the immediate public safety response seconds later. Watch as bystanders, soldiers, volunteers and first responders run into the hot zone on a mission to save as many lives as possible. This is what a bad incident looks like before, during and after.

"Marathon" highlights the survival, support and rehabilitation of three families whose lives were changed forever on Patriots Day. The Norden brothers, Corcoran family and newlyweds Patrick and Jessica Downes are featured as they continue to heal physically and emotionally from what should have been a fun day in the city.

There is a lot to be learned tactically from injury patterns and presentation, but also from each survivor's journey of healing and hope. These brave survivors allow the audience a look into the trials and tribulations of recovery as well as their triumphs. One doctor interviewed in "Marathon" explained to double amputee Celeste Corcoran how amputations and prosthetics should be treated as a lifelong disease and not just as an injury. There is no quick fix and not everyone heals at the same rate.

The problems a traumatic injury cause are not solved with a tourniquet or even surgery. Discharge papers do not include instructions on how to live again. Wounded warriors, many with similar blast injuries sustained in combat and who now use a prosthetic, visited Boston Marathon survivors in the hospital to inspire hope and demonstrate that life can and will get better with time. 

Invisible injuries such as PTSD, hearing loss and survivor's guilt can be just as debilitating as physical injuries and take longer to heal. Time does not heal all wounds, but it will provide an opportunity to heal.

The worst brings out the best
Stories of survival are universal. The strength gained from bearing a heavy burden is one of inner triumph and not external glory. It is possible to gain something out of your loss. These survivors are the archetypes of what the world calls "Boston Strong," but that inner strength could be developed anywhere from nearly anything in countless situations.

Events from tsunamis to earthquakes to active shooters to bombings bring out the best of people while confronted with the worst. I am reminded of the proverb, "They tried to bury us. They did not know that we were seeds."

After the devastation, it's time to put back the pieces and there is no guide for that. Perhaps, "Marathon," by exposing more people to the problems that survivors and their families confront, will prepare all of us to become better people and caregivers.

About the author
Walter Dunbar, EMT 1021, has been a member of Boston EMS since 2008 and an EMT since 2002. He decided to become an EMT on 9/11/2001. On the day of the marathon bombing, he was stationed in the family greeting area a few blocks from the finish line. When the bombs went off, he responded to the finish line to care for the injured. Dunbar was never a runner prior to the bombing, but has since run the Boston Marathon every year as his pilgrimage and for those who can't. He attended the Boston premiere of "Marathon" on Nov. 15.



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Marathon: The Patriots Day Bombing



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Marathon: The Patriots Day Bombing



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Development of diffuse large B-cell lymphoma from follicular lymphoma of the duodenum: changes in endoscopic findings during a 6-year follow-up

Abstract

A 71-year-old Japanese man was diagnosed as having stage I primary follicular lymphoma (FL) of the duodenum according to Lugano International Conference Classification and began receiving annual checkups. Endoscopic examination disclosed white villi swelling with depressed red mucosal lesions. Biopsy specimens from the area of white villi exhibited histopathological features that met the diagnostic criteria for low-grade FL. The depressed red lesions gradually enlarged over six years of follow-up. A biopsy of the white villi swelling revealed distinct well-circumscribed follicles with attenuated mantles in the lamina propria that were positive for CD20, bcl-2, and CD10. Histological findings from the depressed red lesions at 5.5 years after the initial diagnosis were compatible for FL. However, biopsy specimens 6 months later obtained from the same lesions showed a mixture of larger mononuclear cells. These follicular cells were positive for CD20 and bcl-2, but not for CD10, indicating the presence of diffuse large B-cell lymphoma (DLBCL). This case shows altered endoscopic findings in the course of DLBCL development from FL. When depressed red lesions are detected in the background of white villi swelling, repeated biopsies should be performed from both lesions.



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Marathon: The Patriots Day Bombing



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Order from clutter: selective interactions at mammalian replication origins

Nature Reviews Genetics. doi:10.1038/nrg.2016.141

Authors: Mirit I. Aladjem & Christophe E. Redon



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Regulatory activities of transposable elements: from conflicts to benefits

Nature Reviews Genetics. doi:10.1038/nrg.2016.139

Authors: Edward B. Chuong, Nels C. Elde & Cédric Feschotte



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From profiles to function in epigenomics

Nature Reviews Genetics. doi:10.1038/nrg.2016.138

Authors: Stefan H. Stricker, Anna Köferle & Stephan Beck



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DNA repair: RNA–DNA hybrids: double-edged swords

Nature Reviews Genetics. doi:10.1038/nrg.2016.153

Author: Denise Waldron



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The Ca2+ sensitizer CK-2066260 increases myofibrillar Ca2+ sensitivity and submaximal force selectively in fast skeletal muscle

Abstract

Skeletal muscle dysfunction occurs in many diseases and can lead to muscle weakness and premature muscle fatigue. Here we show that the fast skeletal troponin activator, CK-2066260, counteracts muscle weakness by increasing troponin Ca2+ affinity, thereby increasing myofibrillar Ca2+ sensitivity. Exposure to CK-2066260 resulted in a concentration-dependent increase in the Ca2+ sensitivity of ATPase activity in isolated myofibrils and reconstituted hybrid sarcomeres containing fast skeletal muscle troponin C. Stopped-flow experiments revealed a ∼2.7-fold decrease in the Ca2+ off rate of isolated troponin complexes in the presence of CK-2066260 (6 vs. 17 s−1 under control conditions). Isolated mouse flexor digitorum brevis fibres showed a rapidly developing, reversible and dose-dependent force increase at submaximal stimulation frequencies. This force increase was not accompanied by any changes in the free cytosolic [Ca2+] or its kinetics. CK-2066260 induced a slowing of relaxation, which was markedly larger at 26°C than at 31°C and could be linked to the decreased Ca2+ off rate of troponin C. Rats dosed with CK-2066260 showed increased hindlimb isometric and isokinetic force in response to submaximal rates of nerve stimulation in situ producing significantly higher absolute forces at low isokinetic velocities, whereas there was no difference in force at the highest velocities. Overall muscle power was increased and the findings are consistent with a lack of effect on crossbridge kinetics. In conclusion, CK-2066260 acts as a fast skeletal troponin activator that may be used to increase muscle force and power in conditions of muscle weakness.

This article is protected by copyright. All rights reserved



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Anaesthetic challenges in peri-operative management of williams syndrome

2016-11-21T04-14-00Z
Source: The Southeast Asian Journal of Case Report and Review
Shahbaz Hasnain, Mathangi Krishnakumar, Vipul K Sharma, Afrin Sagir.
Introduction: Williams syndrome is a rare microdeletion disorder associated with significant craniofacial and cardiac anomalies. The unique presentation of this syndrome and increased risk for sudden cardiac death poses a significant challenge to the anaesthesiologist to cater to varied requirements in airway and intraoperative management. The cardiac anomalies associated with this syndrome are complex and require prompt surgical correction. Case report: A 2 and half year old male child, a known case of williams syndrome underwent surgery for correction of supravalvular aortic stenosis. He succumbed to sudden cardiac arrest in the immediate postop period. Discussion: Williams syndrome are associated with multifaceted cardiac defects with poor prognosis due to increased risk of sudden cardiac death and cardiac arrest resistant to normal resuscitation. This emphasises the need for careful and thorough perioperative care taking it to consideration the unique problems associated with this syndrome. Conclusion: A case of willams syndrome who underwent cardiac surgery is presented here with special emphasis on the challenges and distinct issues faced in the perioperative period


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Assessment of satisfaction and anxiety levels of the patients who had cesarean section with general and spinal anesthesia

2016-11-21T03-14-23Z
Source: Medicine Science | International Medical Journal
Basak Altiparmak, Sezen Bozkurt Koseoglu.
The primary aim in our study is to obtain the most objective result by comparing the anesthesia satisfaction of women who had cesarean section both under general and spinal anesthesia. Our secondary aim is to assess the relation between patients preference of anesthesia technique and anxiety level. Total number of 94 ASA II women who hadcesarean section under general anesthesia within 5 years and scheduled to have elective cesarean section under spinal anesthesia, were included into the study. After 48 hours, all of the patients were asked to compare their previous general anesthesia experience with spinal anesthesia in regard of satisfaction and anxiety. Satisfaction scores were as bad, average, good, very good while patients were asked to use numbers from 1 to 10 to score their anxiety level. The mean age of the patients was 26.1±4.5 when they had general anesthesia and it was 29.7±4.6 when they had spinal anesthesia. When the satisfaction scores of anesthesia techniques were compared, spinal anesthesia was found to be statistically significantly high (p0.05). The patients who had cesarean section under both of the anesthesia techniques were more satisfied by spinal anesthesia. While no difference was found between preoperative anxiety levels.


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Further evidence that variants in PPP1CB cause a rasopathy similar to Noonan syndrome with loose anagen hair



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An elderly Jervell and Lange-Nielsen patient heterozygous compound for two new KCNQ1 mutations

We present the case of a 66-year-old female with early onset deafness and seizures, who was diagnosed with epilepsy at the age of 2 years. She received antiepileptic drugs and was free of syncope episodes for 32 years. After a syncope at the age of 34, the ECG was characteristic of long-QT syndrome and was treated with antiarrhythmic drugs. Sequencing of the KCNQ1 gene identified two novel KCNQ1 variants interpreted to be pathogenic, and the patient was finally diagnosed with Jervell and Lange-Nielsen syndrome. © 2016 Wiley Periodicals, Inc.



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High incidence of BSCL2 intragenic recombinational mutation in Peruvian type 2 Berardinelli–Seip syndrome

Congenital generalized lipodystrophy (CGL) is a genetically heterogeneous group of disorders characterized by the absence of functional adipose tissue. We identified two pedigrees with CGL in the community of the Mestizo tribe in the northern region of Peru. Five cases, ranging from 15 months to 7 years of age, presented with generalized lipodystrophy, muscular prominence, mild intellectual disability, and a striking aged appearance. Sequencing of the BSCL2 gene, known to be mutated in type 2 CGL (CGL2; Berardinelli–Seip syndrome), revealed a homozygous deletion of exon 3 in all five patients examined, suggesting the presence of a founder mutation. This intragenic deletion appeared to be mediated by recombination between Alu sequences in introns 2 and 3. CGL2 in this population is likely underdiagnosed and undertreated because of its geographical, socio-economic, and cultural isolation.© 2016 Wiley Periodicals, Inc.



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Incomplete Timothy syndrome secondary to a mosaic mutation of the CACNA1C gene diagnosed using next-generation sequencing

Autosomal dominant genetic diseases can occur de novo and in the form of somatic mosaicism, which can give rise to a less severe phenotype, and make diagnosis more difficult given the sensitivity limits of the methods used. We report the case of female child with a history of surgery for syndactyly of the hands and feet, who was admitted at 6 years of age to a pediatric intensive care unit following cardiac arrest. The electrocardiogram (ECG) showed a long QT interval that on occasions reached 500 ms. Despite the absence of facial dysmorphism and the presence of normal psychomotor development, a diagnosis of Timothy syndrome was made given the association of syndactyly and the ECG features. Sanger sequencing of the CACNA1C gene, followed by sequencing of the genes KCNQ1, KCNH2, KCNE1, KCNE2, were negative. The subsequent analysis of a panel of genes responsible for hereditary cardiac rhythm disorders using Haloplex technology revealed a recurrent mosaic p.Gly406Arg missense mutation of the CACNA1C gene in 18% of the cells. This mosaicism can explain the negative Sanger analysis and the less complete phenotype in this patient. Given the other cases in the literature, mosaic mutations in Timothy syndrome appear more common than previously thought. This case demonstrates the importance of using next-generation sequencing to identify mosaic mutations when the clinical picture supports a specific mutation that is not identified using conventional testing. © 2016 Wiley Periodicals, Inc.



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Novel EED mutation in patient with Weaver syndrome

Weaver syndrome is a rare condition characterized by overgrowth, macrocephaly, accelerated osseous maturation, variable intellectual disability, and characteristic facial features. Pathogenic variants in EZH2, a histone methyltransferase, have previously been identified as a cause of Weaver syndrome. However, the underlying molecular cause in many patients remains unknown. We report a patient with a clinical diagnosis of Weaver syndrome whose exome was initially non-diagnostic. Reports in the medical literature of EED associated overgrowth prompted re-analysis of the patient's original exome data. The patient was found to have a likely pathogenic variant in EED. These findings support that Weaver syndrome is a disorder with locus heterogeneity and can be due to pathogenic variants in either EZH2 or EED. This case highlights the utility of exome sequencing as a clinical diagnostic tool for novel gene discovery as well as the importance of re-examination of exome data as new information about gene-disease associations becomes available. © 2016 Wiley Periodicals, Inc.



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Acute myeloid leukemia in Baraitser–Winter cerebrofrontofacial syndrome

Baraitser–Winter malformation syndrome (BWMS), Fryns–Aftimos syndrome (FA), and craniofrontofacial syndromes (CFFs) have all been recently proposed to be part of the same phenotypic spectrum of Baraitser–Winter cerebrofrontofacial syndrome (BWCFF), which is characterized by facial dysmorphism, ocular coloboma, brain malformations, and intellectual disabilities. In addition to that, the recent discovery of missense mutations in one of the two ubiquitously expressed cytoplasmic β- and γ-acting-encoding genes ACTB (7p22.1) and ACTG1 (17q25.3) in patients carrying a clinical diagnosis of BWSM, FA, or CCF has provided further evidence that these clinical conditions do indeed belong to the same entity at the molecular level. Two cases of BWCFF patients presenting with malignancies (i.e., acute lymphocytic leukemia and cutaneous lymphoma) have been published thus far. Here, we report a 21-year-old female with molecularly confirmed FA, who developed acute myeloid leukemia (AML). The present finding may indicate that actinopathies could be cancer-predisposing syndromes although small numbers and publication bias should be taken into account. © 2016 Wiley Periodicals, Inc.



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Differential regulation of blood flow induced neovascularisation and mural cell recruitment by VEGF and angiopoietin signalling

Abstract

Signalling through VEGF receptors and the Tie2 receptor by angiopoietins is required in combination with blood flow for the formation of a functional vascular network. We tested the hypothesis that VEGF and Ang1 contribute differentially to neovascularization induced by nitric oxide (NO) mediated vasodilatation, by comparing the phenotype of new microvessels in the mesentery during induction of vascular remodelling by over-expression of endothelial nitric oxide synthase (eNOS) in the fat pad of the adult rat mesentery during inhibition of Angiopoietin signalling with soluble Tie2 and VEGF signalling with sFlt1. We find that NO mediated angiogenesis was blocked by inhibition of VEGF with sFlt1 (from 881 ± 98% increase in functional vessel area (FVA) to 279 ± 72%) and by inhibition of angiopoietin with soluble Tie2 (to 337 ± 67%). Exogenous angiopoietin-1 was required to induce arteriolargenesis (8.6 ± 1.3% of vessels with recruitment of vascular smooth muscle cells, VSMC) in the presence of enhanced flow. Soluble Tie2 and sFlt1 both inhibited VSMC recruitment (both 0%), and VEGF inhibition increased pericyte recruitment to newly formed vessels (from 27 ± 2 to 54 ± 3% pericyte ensheathment). We demonstrate that a fine balance of VEGF and Angiopoietin signalling is required for the formation of a functional vascular network. Endogenous VEGF signalling prevents excess neovessel pericyte coverage, and is required for VSMC recruitment during increased nitric oxide mediated vasodilatation and angiopoietin signalling (NO-Tie mediated arteriogenesis). Therapeutic vascular remodelling paradigms may therefore require treatments that modulate blood flow to utilise endogenous VEGF, in combination with exogenous Ang1, for effective neovascularisation.

This article is protected by copyright. All rights reserved



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The role of computed tomography colonography in detecting bowel involvement in women with deep infiltrating endometriosis: Comparison with clinical history, serum Ca125, and transvaginal sonography

Journal of Computer Assisted Tomography

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Estimating the burden of disease attributable to injecting drug use as a risk factor for HIV, hepatitis C, and hepatitis B: Fiindings from the Global Burden of Disease Study 2013

The Lancet Infectious Diseases

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Laparoscopic complete mesocolic excision with central vascular ligation in 600 right total mesocolectomies: Safety, prognostic factors and oncologic outcome

The American Journal of Surgery

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Sunitinib in pancreatic neuroendocrine tumors: Updated progression-free survival and final overall survival from a phase III randomized study

Annals of Oncology

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Enhanced recovery after surgery programs versus traditional perioperative care in laparoscopic hepatectomy: A meta-analysis

International Journal of Surgery

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Long-term outcomes of liver transplantation in patients with hepatitis C infection are not affected by HCV positivity of a donor

BMC Gastroenterology

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Estimating 12-weeks death probability in patients with refractory metastatic colorectal cancer: The Colon Life nomogram

Annals of Oncology

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Narcotic and antidepressant use and hospital readmission rates in children with functional abdominal pain

Clinical Pediatrics

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Abdominal drainage versus no abdominal drainage for laparoscopic cholecystectomy: A systematic review with meta-analysis and trial sequential analysis

International Journal of Surgery

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Long-lasting reduction in clonogenic potential of colorectal cancer cells by sequential treatments with 5-azanucleosides and topoisomerase inhibitors

BMC Cancer

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Evaluating surgical management and outcomes of colovaginal fistulas

The American Journal of Surgery

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Examining the gastric cancer survival gap between Asians and whites in the United States

Gastric Cancer

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Effects of vedolizumab on health-related quality of life in patients with ulcerative colitis: Results from the randomised GEMINI 1 trial

Alimentary Pharmacology and Therapeutics

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Healthy dietary patterns and incidence of biliary tract and gallbladder cancer in a prospective study of women and men

European Journal of Cancer

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The cost-effectiveness of nonoperative management versus laparoscopic appendectomy for the treatment of acute, uncomplicated appendicitis in children

Journal of Pediatric Surgery

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Hospitalizations in immigrants and nonimmigrants diagnosed with chronic hepatitis C infection in Quebec

Clinical Infectious Diseases

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Percutaneous CT fluoroscopy-guided core biopsy of pancreatic lesions: Technical and clinical outcome of 104 procedures during a 10-year period

Acta Radiologica

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Liver triacylglycerol content and gestational diabetes: Effects of moderate energy restriction

Diabetologia - Clinical and Experimental Diabetes and Metabolism

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Hepatic angiomyolipomas may overexpress TFE3, but have no relevant genetic alterations

Human Pathology

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Long-term follow-up reveals high incidence of colorectal cancer in Indian patients with inflammatory bowel disease

United European Gastroenterology Journal

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