bluuebunny/crossref_metadata_2025 huggingface dataset:
PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature
Authors: Reijnders Margot R F , Janowski Robert , Alvi Mohsan , Self Jay E , van Essen Ton J , Vreeburg Maaike , Rouhl Rob P W , Stevens Servi J C , Stegmann Alexander P A , Schieving Jolanda , Pfundt Rolph , van Dijk Katinke , Smeets Eric , Stumpel Connie T R M , Bok Levinus A , Cobben Jan Maarten , Engelen Marc , Mansour Sahar , Whiteford Margo , Chandler Kate E , Douzgou Sofia , Cooper Nicola S , Tan Ene-Choo , Foo Roger , Lai Angeline H M , Rankin Julia , Green Andrew , Lönnqvist Tuula , Isohanni Pirjo , Williams Shelley , Ruhoy Ilene , Carvalho Karen S , Dowling James J , Lev Dorit L , Sterbova Katalin , Lassuthova Petra , Neupauerová Jana , Waugh Jeff L , Keros Sotirios , Clayton-Smith Jill , Smithson Sarah F , Brunner Han G , van Hoeckel Ceciel , Anderson Mel , Clowes Virginia E , Siu Victoria Mok , DDD study The , Selber Paulo , Leventer Richard J , Nellaker Christoffer , Niessing Dierk , Hunt David , Baralle Diana
Published: November 2017

Background

De novo mutations inPURAhave recently been described to cause PURA syndrome, a neurodevelopmental disorder characterised by severe intellectual disability (ID), epilepsy, feeding difficulties and neonatal hypotonia.

Objectives

To delineate the clinical spectrum of PURA syndrome and study genotype-phenotype correlations.

Methods

Diagnostic or research-based exome or Sanger sequencing was performed in individuals with ID. We systematically collected clinical and mutation data on newly ascertained PURA syndrome individuals, evaluated data of previously reported individuals and performed a computational analysis of photographs. We classified mutations based on predicted effect using 3D in silico models of crystal structures ofDrosophila-derived Pur-alpha homologues. Finally, we explored genotype-phenotype correlations by analysis of both recurrent mutations as well as mutation classes.

Results

We report mutations inPURA(purine-rich element binding protein A) in 32 individuals, the largest cohort described so far. Evaluation of clinical data, including 22 previously published cases, revealed that all have moderate to severe ID and neonatal-onset symptoms, including hypotonia (96%), respiratory problems (57%), feeding difficulties (77%), exaggerated startle response (44%), hypersomnolence (66%) and hypothermia (35%). Epilepsy (54%) and gastrointestinal (69%), ophthalmological (51%) and endocrine problems (42%) were observed frequently. Computational analysis of facial photographs showed subtle facial dysmorphism. No strong genotype-phenotype correlation was identified by subgrouping mutations into functional classes.

Conclusion

We delineate the clinical spectrum of PURA syndrome with the identification of 32 additional individuals. The identification of one individual through targeted Sanger sequencing points towards the clinical recognisability of the syndrome. Genotype-phenotype analysis showed no significant correlation between mutation classes and disease severity.
Progressive neurological deficits after general anaesthesia in a horse
Authors: Küls Nina , Rocchi Attilio
Published: November 2017

An otherwise healthy eight‐year‐old Irish Sports Horse mare weighing 590 kg underwent general anaesthesia for bilateral tarsal arthroscopy and arthrotomy with subsequent removal of two osseous intra‐articular fragments. The horse was positioned in dorsal recumbency, with the pelvic limbs stretched backwards. The anaesthetic was uneventful except for a brief period of hypertension and mild hypoxaemia. However, a bilateral pelvic limb paralysis became evident during recovery, while the thoracic limb function and mental state of the horse remained normal. Postanaesthetic myopathy and fractures were excluded early on in the investigation and repeated neurological examinations revealed initially intact nociception, withdrawal and cutaneous trunci reflexes in both pelvic limbs, as well as normal anal and tail tone. A bilateral femoral neuropathy was suspected at first. However, the horse’s neurological function progressively deteriorated over the following night, leading to a flaccid paralysis of both pelvic limbs and complete loss of withdrawal and cutaneous trunci reflexes, and anal and tail tone, suggesting a central lesion. A histopathological examination was consistent with postanaesthetic myelomalacia.
Probabilistic seismic-hazard site assessment in Kitimat, British Columbia, from Bayesian inversion of surface-wave dispersion
Authors: Gosselin Jeremy M. , Cassidy John F. , Dosso Stan E. , Brillon Camille
Published: November 2017

This paper applies rigorous quantitative inversion methods to estimate seismic-hazard site classification and amplification factors in Kitimat, British Columbia, due to near-surface geophysical conditions. Frequency-wavenumber seismic-array processing is applied to passive data collected at three sites in Kitimat to estimate surface-wave dispersion. The dispersion data are inverted using a fully nonlinear Bayesian (probabilistic) inference methodology to estimate shear-wave velocity (VS) profiles and uncertainties. The VSresults are used to calculate the travel-time average of VSto 30 m depth (VS30) as a representation of the average sediment conditions, and to determine seismic-hazard site classification with respect to the National Building Code of Canada. In addition, VS30-dependent site amplification factors are computed to estimate site amplification at the three Kitimat sites. Lastly, the VSprofiles are used to compute amplification and resonance spectra for horizontally polarized shear waves. Quantitative uncertainties are estimated for all seismic-hazard estimates from the probabilistic VSstructure. The Kitimat region is the site for several proposed large-scale industrial development projects. One of the sites considered in this study is co-located with a recently deployed soil seismographic monitoring station that is currently recording ground motions as part of a 5 year campaign. The findings from this work will be useful for mitigating seismic amplification and resonance hazards on critical infrastructure, as well as for future seismological research, in this environmentally and economically significant region of Canada.
The sustainability of water resources in High Mountain Asia in the context of recent and future glacier change
Authors: Rowan Ann V. , Quincey Duncan J. , Gibson Morgan J. , Glasser Neil F. , Westoby Matthew J. , Irvine-Fynn Tristram D. L. , Porter Phillip R. , Hambrey Michael J.
Published: November 2017

High Mountain Asia contains the largest volume of glacier ice outside the polar regions, and contain the headwaters of some of the largest rivers in central Asia. These glaciers are losing mass at a mean rate of between –0.18 and –0.5 m water equivalent per year. While glaciers in the Himalaya are generally shrinking, those in the Karakoram have experienced a slight mass gain. Both changes have occurred in response to rising air temperatures due to Northern Hemisphere climate change. In the westerly influenced Indus catchment, glacier meltwater makes up a large proportion of the hydrological budget, and loss of glacier mass will ultimately lead to a decrease in water supplies. In the monsoon-influenced Ganges and Brahmaputra catchments, the contribution of glacial meltwater is relatively small compared to the Indus, and the decrease in annual water supplies will be less dramatic. Therefore, enhanced glacier melt will increase river flows until the middle of the twenty-first century, but in the longer term, into the latter part of this century, river flows will decline as glaciers shrink. Declining meltwater supplies may be compensated by increases in precipitation, but this could exacerbate the risk of flooding.
Metastatic Spinal Cord Compression Secondary to Liver Cancer
Authors: Gams Massi Daniel , Nyassinde Japhari , Diagne Ngor Side , Abdennaji Ramy , Toure Kamadore , Ndiaye Moustapha , Diop Amadou Gallo , Ndiaye Mouhamadou Mansour
Published: November 2017

Metastatic spinal cord compression (MSCC) is a medical emergency that requires rapid diagnosis and treatment to reduce pain, to preserve neurological functioning, and to prolong survival. The diagnosis of liver cancer is often neglected in the differential diagnosis of MSCC. Treatment is usually palliative and evolution is often fatal. This is a case report of a 28-year-old patient living in Mauritania hospitalized in November 2014 at the neurology department of Fann national teaching hospital in Dakar, for the management of a chronic dorsal spinal cord compression. The radiological and laboratory investigations done revealed the metastatic compression originating from a liver cancer with elevated alpha-fetoprotein and aspartate transaminase, positive hepatitis B surface antigen, and multiple metastasis in the lungs, mediastinum, ribs, iliac, and peritoneum. The hip joint X-ray showed a spontaneous fracture of the right femoral neck. The multidisciplinary treatment was palliative and the evolution was fatal within the month of hospitalization. Earlier diagnosis and treatment of MSCC may not have saved the life of the patient but may have prevented much suffering and would likely have prolonged the life of a young man.
The Treatment of Clozapine-Withdrawal Delirium with Electroconvulsive Therapy
Authors: Modak Anish , Åhlin Arne
Published: November 2017

Clozapine, a commonly used atypical antipsychotic, can precipitate a severe withdrawal syndrome. In this report, we describe a case of delirium with catatonic features emerging after the immediate cessation of clozapine subsequent to concerns of developing neuroleptic malignant syndrome. After multiple treatments were found to be inefficacious, electroconvulsive therapy (ECT) was initiated, resulting in significant improvement. A literature search revealed six previous cases of clozapine-withdrawal syndromes of varied symptomatology treated with ECT. To our knowledge, the present case represents the first reported clozapine-withdrawal delirium treated successfully with ECT.
Design of Meteorological Element Detection Platform for Atmospheric Boundary Layer Based on UAV
Authors: Zhang Yonghong , Dong Tiantian , Liu Yunping
Published: November 2017

Among current detection methods of the atmospheric boundary layer, sounding balloon has disadvantages such as low recovery and low reuse rate, anemometer tower has disadvantages such as fixed location and high cost, and remote sensing detection has disadvantages such as low data accuracy. In this paper, a meteorological element sensor was carried on a six-rotor UAV platform to achieve detection of meteorological elements of the atmospheric boundary layer, and the influence of different installation positions of the meteorological element sensor on the detection accuracy of the meteorological element sensor was analyzed through many experiments. Firstly, a six-rotor UAV platform was built through mechanical structure design and control system design. Secondly, data such as temperature, relative humidity, pressure, elevation, and latitude and longitude were collected by designing a meteorological element detection system. Thirdly, data management of the collected data was conducted, including local storage and real-time display on ground host computer. Finally, combined with the comprehensive analysis of the data of automatic weather station, the validity of the data was verified. This six-rotor UAV platform carrying a meteorological element sensor can effectively realize the direct measurement of the atmospheric boundary layer and in some cases can make up for the deficiency of sounding balloon, anemometer tower, and remote sensing detection.
New Trends for the Evaluation of Heat Treatments of Milk
Authors: Ritota Mena , Di Costanzo Maria Gabriella , Mattera Maria , Manzi Pamela
Published: November 2017

Milk is generally very rich in nutrients and this may lead it to be an ideal growth environment for many microorganisms, including pathogens, so effective measurements aiming to ensure total microbiological safety of milk and minimize the risk to human health are needed. Milk heat treatments are the most common practices carried out to inhibit the microbial growth; therefore it is necessary to have analytical procedures that are more and more up-to-date and capable of detecting the effectiveness of the heat treatments. Most of the reference and official methods to assess heat treatment in milk are based on the evaluation of the modifications of some milk components following the thermal process, such as the determination of enzyme activities (alkaline phosphatase and lactoperoxidase), whey proteins, Maillard reaction compounds (generally furosine), and lactulose. Besides the most common techniques (liquid and gas chromatography, capillary electrophoresis, or spectroscopy) used for the detection of single thermal indicators, new approaches, such as chemometric studies or more recent techniques, including size-exclusion chromatography with online electrospray mass spectrometry or stable isotope ratio mass spectrometry, are discussed in this review in order to evaluate heat treatment in milk.
The Relationship between Physical Activity and Screen Time with the Risk of Hypertension in Children and Adolescents with Intellectual Disability
Authors: Wyszyńska Justyna , Podgórska-Bednarz Justyna , Dereń Katarzyna , Mazur Artur
Published: November 2017

Introduction. Children and adolescents with intellectual disability (ID) have significantly lower levels of physical activity compared to their peers without ID. Association between the level of physical activity and screen time with hypertension (HPT) in children and adolescents with ID has not been reported yet. Aim. To assess the relationship between the level of physical activity and screen time with the prevalence of HPT in students with ID. Material and Methods. The study group consisted of 568 children with ID aged 7 to 18. The control group matched for age and gender consisted of 568 students without ID. Blood pressure (BP), body mass and height, level of physical activity, and screen time were assessed. Results. The level of physical activity in the study group was significantly lower than in the control group (score 1.99 versus 3.02, resp., in Physical Activity Questionnaire). The risk of HPT in the students with ID with low levels of physical activity was more than 4 times higher (OR = 4.40) and more than 2 times higher when screen time was ≥2 h/day. Conclusion. Low level of physical activity and long screen time were associated with significantly higher HPT risk among children and adolescents with ID.
The Successful Treatment of a Case of Linear Psoriasis with Ixekizumab
Authors: Ghoneim Sara , Ramos-Rodriguez Alvaro J. , Vazquez de Lara Fernando , Bonomo Lauren
Published: November 2017

Linear psoriasis is an unusual clinical variation of psoriasis that manifests segmentally along the lines of Blaschko. A major differential diagnosis is inflammatory linear verrucous epidermal nevus (ILVEN). The treatment of linear psoriasis is often challenging, with inadequate response to biological agents reported in the literature. We report a case of a 25-year-old African-American female who presented with asymptomatic hyperkeratotic papules along the lines of Blaschko and was subsequently diagnosed with linear psoriasis. After failing conventional treatment regimens, the patient received a trial of ixekizumab with complete resolution of cutaneous lesions reported after 4 months and only 8 doses of the anti-IL-17 biologic agent.
Calcifying Acne: An Unusual Extraoral Radiographic Finding
Authors: Horgan Thomas , McNamara Catherine , Ireland Anthony , Sandy Jonathan , Puryer James
Published: November 2017

Calcinosis cutis is a condition of accumulation of calcium salts within the dermis leading to the formation of a calcified mass. This complication has been reported in acne vulgaris and other systemic metabolic disorders. This paper presents a rare case of calcinosis cutis in a 14-year-old male which was found at a routine orthodontic assessment.
Parameter Selection Method for Support Vector Regression Based on Adaptive Fusion of the Mixed Kernel Function
Authors: Wang Hailun , Xu Daxing
Published: November 2017

Support vector regression algorithm is widely used in fault diagnosis of rolling bearing. A new model parameter selection method for support vector regression based on adaptive fusion of the mixed kernel function is proposed in this paper. We choose the mixed kernel function as the kernel function of support vector regression. The mixed kernel function of the fusion coefficients, kernel function parameters, and regression parameters are combined together as the parameters of the state vector. Thus, the model selection problem is transformed into a nonlinear system state estimation problem. We use a 5th-degree cubature Kalman filter to estimate the parameters. In this way, we realize the adaptive selection of mixed kernel function weighted coefficients and the kernel parameters, the regression parameters. Compared with a single kernel function, unscented Kalman filter (UKF) support vector regression algorithms, and genetic algorithms, the decision regression function obtained by the proposed method has better generalization ability and higher prediction accuracy.
A Cross-Lingual Mobile Medical Communication System Prototype for Foreigners and Subjects with Speech, Hearing, and Mental Disabilities Based on Pictograms
Authors: Wołk Krzysztof , Wołk Agnieszka , Glinkowski Wojciech
Published: November 2017

People with speech, hearing, or mental impairment require special communication assistance, especially for medical purposes. Automatic solutions for speech recognition and voice synthesis from text are poor fits for communication in the medical domain because they are dependent on error-prone statistical models. Systems dependent on manual text input are insufficient. Recently introduced systems for automatic sign language recognition are dependent on statistical models as well as on image and gesture quality. Such systems remain in early development and are based mostly on minimal hand gestures unsuitable for medical purposes. Furthermore, solutions that rely on the Internet cannot be used after disasters that require humanitarian aid. We propose a high-speed, intuitive, Internet-free, voice-free, and text-free tool suited for emergency medical communication. Our solution is a pictogram-based application that provides easy communication for individuals who have speech or hearing impairment or mental health issues that impair communication, as well as foreigners who do not speak the local language. It provides support and clarification in communication by using intuitive icons and interactive symbols that are easy to use on a mobile device. Such pictogram-based communication can be quite effective and ultimately make people’s lives happier, easier, and safer.
Cystic Adventitial Disease of Popliteal Artery with Venous Aneurysm of Popliteal Vein: Two-Year Follow-Up after Surgery
Authors: Takizawa Koki , Osawa Hiroshi , Kojima Atsuo , Abraham Samuel J. K. , Hosaka Shigeru
Published: November 2017

We report a rare case of cystic adventitial disease of popliteal artery with venous aneurysm of popliteal vein. A 46-year-old woman had sudden-onset intermittent claudication and coldness in her right leg. The right-sided ankle-brachial pressure index (ABI) was 1.01, but peripheral arterial pulsation was decreased at knee venting position. Computed tomography revealed simple cystic lesion of the popliteal artery and stenosis of the arterial lumen in this lesion. The patient was treated by complete resection of the cystic adventitial layer of popliteal artery. A venous aneurysm of popliteal vein was revealed by intraoperative echo and was simply ligated. The patient had uneventful postoperative course and no symptoms of relevance during the two years of follow-up.
Mechanisms Involving Myocardial Injury in Tropical Stings and Bites
Authors: Kumanan Thirunavukarasu , Guruparan Mahesan , Vithiya Ratnasamy , Gawarammana Indika
Published: November 2017

It is known that a number of toxic substances produce myocardial injury by several mechanisms involving interruption of coronary blood flow due to stimulation of clotting mechanism and coronary vasospasm. Number of toxic substances may cause direct myocardial toxicity independent of coronary blood flow. Acute myocardial injury due to stings and bites is a rare entity and not well understood. Here we illustrate a case of myocardial injury due to Russell’s viper envenomation.
Thyrotoxicosis Associated with a Hypopharyngeal Toxic Nodular Thyroid
Authors: Imran S. Ali , Hinchey Adam , Hart Rob , Bullock Martin , Ross Andrew , Burrell Steven
Published: November 2017

Ectopic thyroid is a rare developmental anomaly which may be either asymptomatic or present with thyroid dysfunction as well as pressure symptoms. Here we present a novel case of thyrotoxicosis associated with a hypopharyngeal multinodular thyroid in a female. Removal of the ectopic thyroid led to normalization of the thyroid status.
Hybrid Localization Approach for Underwater Sensor Networks
Authors: Tsai Pei-Hsuan , Tsai Rong-Guei , Wang Shiuan-Shiang
Published: November 2017

Underwater Wireless Sensor Networks (UWSNs) are widely used to collect data in the marine environment. Location and time are essential aspects when sensors collect data, particularly in the case of location-aware data. Many studies on terrestrial sensor networks consider sensor locations as the locations where data is collected and focus on sensor positioning when sensors are fixed. However, underwater sensors are mobile networks and the sensor locations change continuously. Localization schemes designed for static sensor networks need to run periodically to update locations and consume considerable sensor power and increase the communication overhead; hence, they cannot be applied to UWSNs. This paper presents a hybrid localization approach with data-location correction, called Data Localization Correction Approach (DLCA), which positions data without additional communication overhead and power consumption on sensors. Without loss of generality, we simulate the ocean environment based on a kinematic model and meandering current mobility model and conduct extensive simulations. Our results show that DLCA can significantly reduce communication costs, while maintaining relatively high localization accuracy.
On the Helical Structure of Guanosine 5′-Monophosphate Formed at pH 5: Is It Left- or Right-Handed?
Authors: Wu Gang , Kwan Irene C. M. , Yan Zhimin , Huang Yining , Ye Eric
Published: November 2017

Early X-ray fiber diffraction studies have established that the spontaneous gel formation of guanosine 5′-monophosphate (5′-GMP) under slightly acidic conditions (e.g., pH 5) results from self-assembly of 5′-GMP into a helical structure in which hydrogen-bonded guanine bases form a continuous helix with 15 nucleotides per 4 turns. For more than five decades, the sense of this helix is believed to be left-handed. Using multinuclear solid-state NMR and IR spectroscopic methods, we have finally determined the long-missing structural details of this helix. First, we found that this 5′-GMP helix is right-handed containing exclusive C3′-endo sugar puckers. Second, we showed that the central channel of this helix is free of Na+ ions, which is in sharp contrast to the helix formed by 5′-GMP at pH 8 where the central channel is filled with Na+ ions.
Inkjet-Printed CdTe Quantum Dots-Polyurethane Acrylate Thin Films
Authors: Du Lei , Liu Zhejun , Jiang Suhua
Published: November 2017

We demonstrated the inkjet-printed CdTe quantum dots-polyurethane acrylate thin films and their potential application in the display devices. The water soluble CdTe QDs were synthesized through the wet chemistry and the emission wavelengths can be freely tuned during the preparation process. Combining with the UV curable resin polyurethane acrylate, the QDs inks were prepared and the influence of diluent and water content on the performance of resultant films was studied. The tensile stress of the films cured from the QDs inks with diluent increased from 10.6 MPa to 27.5 MPa and the low water content led to uniform polymer matrix. Furthermore, the existence of diluent and low water content would all improve the fluorescence stability of the thin films. Finally, the thin films can be deposited on different substrates and well controlled to meet the RGB color standard, which will pave the way to a simple, low-cost, large-scale, and highly reliable method for the application of flexible displays.
Mechanical Properties of High-Nb X80 Steel Weld Pipes for the Second West-to-East Gas Transmission Pipeline Project
Authors: Qiao Gui-ying , Chen Xiao-wei , Zhang Zhi-en , Han Xiu-lin , Wang Xu , Liao Bo , Xiao Fu-ren
Published: November 2017

The mechanical properties of steel pipe have great effects on the integrality and operation safety of gas transmission pipeline. In order to reduce the cost of the steel pipe, the high-Nb X80 pipeline steels with the different alloying systems have been used in the Second West-to-East Gas Transmission Pipeline Project. Nevertheless, an investigation into the effects of chemical composition on the mechanical properties of steel pipes is lacking. In this work, the chemical composition and mechanical properties of high-Nb X80 grade steel pipes with a diameter of ϕ1,219 mm and a wall thickness of 22 mm, which are coiled by steels manufactured by three mills, have been analyzed. Furthermore, the effects of chemical composition of the steels on the mechanical properties of the pipe body and weld joint were discussed.
Transport of Zn (II) by TDDA-Polypropylene Supported Liquid Membranes and Recovery from Waste Discharge Liquor of Galvanizing Plant of Zn (II)
Authors: Ur Rehman Hanif , Akhtar Gul , Ur Rashid Haroon , Ali Nauman , Ahmad Imtiaz , Ur Rehman Saeed , Khan Kamin , Arshad Muhammad
Published: November 2017

The facilitated passage of Zn (II) across flat sheet supported liquid membrane saturated with TDDA (tri-n-dodecylamine) in xylene membrane phase has been investigated. The effect of acid and metal ion concentration in the feed solution, the carrier concentration in membrane phase, stripping agent concentration in stripping phase, and coions on the extraction of Zn (II) was investigated. The stoichiometry of the extracted species, that is, complex, was investigated on slope analysis method and it was found that the complex (LH)2·Zn(Cl2) is responsible for transport of Zn (II). A mathematical model was developed for transport of Zn (II), and the predicted results strongly agree with experimental ones. The mechanism of transport was determined by coupled coion transport mechanism with H+and Cl−coupled ions. The optimized SLM was effectively used for elimination of Zn (II) from waste discharge liquor of galvanizing plant of Zn (II).
Prenatal Diagnosis of a Segmental Small Bowel Volvulus with Threatened Premature Labor
Authors: Monard Barbara , Mottet Nicolas , Ramanah Rajeev , Riethmuller Didier
Published: November 2017

Fetal primary small bowel volvulus is extremely rare but represents a serious life-threatening condition needing emergency neonatal surgical management to avoid severe digestive consequences. We report a case of primary small bowel volvulus with meconium peritonitis prenatally diagnosed at 27 weeks and 4 days of gestation during threatened premature labor with reduced fetal movements. Ultrasound showed a small bowel mildly dilated with thickened and hyperechogenic intestinal wall, with a typical whirlpool configuration. Normal fetal development allowed continuation of pregnancy with ultrasound follow-up. Induction of labor was decided at 37 weeks and 2 days of gestation because of a significant aggravation of intestinal dilatation appearing more extensive with peritoneal calcifications leading to the suspicion of meconium peritonitis, associated with reduced fetal movements and reduced fetal heart rate variability, for neonatal surgical management with a good outcome.
Fluid Retention Caused by Rosiglitazone Is Related to Increases in AQP2 andαENaC Membrane Expression
Authors: Xu Jinghua , Pan Mingyue , Wang Xiaoli , Xu Lishi , Li Lanfang , Xu Cheng
Published: November 2017

Peroxisome proliferator activated receptor-γ(PPARγ) is a ligand-activated transcription factor of the nuclear hormone receptor superfamily. The decreased phosphorylation of PPARγdue to rosiglitazone (ROS) is the main reason for the increased insulin sensitivity caused by this antidiabetic drug. However, there is no clear evidence whether the nuclear translocation of p-PPARγstimulated by ROS is related to fluid retention. It is also unclear whether the translocation of p-PPARγis associated with the change of aquaporin-2 (AQP2) and epithelial sodium channelαsubunit (αENaC) in membranes, cytoplasm, and nucleus. Our experiments indicate that ROS significantly downregulates nuclear p-PPARγand increases membrane AQP2 andαENaC; however, SR1664 (a nonagonist PPARγligand) reduces p-PPARγand has no effect on AQP2 andαENaC. Therefore, we conclude that in vitro the fluid retention caused by ROS is associated with the increases in membraneαENaC and AQP2 but has little relevance to the phosphorylation of PPARγ.
Discussion on the Timing of Balloon Occlusion of the Abdominal Aorta during a Caesarean Section in Patients with Pernicious Placenta Previa Complicated with Placenta Accreta
Authors: Zhu Baoju , Yang Kaili , Cai Lina
Published: November 2017

Objective. This paper is aimed at investigating the role and value of the timing of balloon occlusion of the abdominal aorta during caesarean section in patients with pernicious placenta previa complicated with placenta accreta. Methods. 79 cases admitted to the Second Affiliated Hospital of Zhengzhou University from September 2015 to December 2016 were treated with ultrasound mediated abdominal aortic balloon occlusion. Among them, 42 cases, whose balloon occlusion time was selected before the delivery and transverse incision was taken, were group A. The other 37 cases were group B, whose timing of balloon occlusion was selected after the delivery and the uterine incision made trying to avoid the placenta or double incisions. The intraoperative blood loss, utilization of blood, and other indicators were compared between the two groups. Results. The intraoperative blood loss in groups A and B was 413.8 ± 105.9 ml and 810.3 ± 180.3 ml, and the utilization of blood products in groups A and B was 30.23% and 89.2%. The total hysterectomy rate was 2.53% (2/79), with no hysterectomies in groups A and 2 cases in group B. Conclusion. The balloon occlusion of the abdominal aorta before the delivery combined with a transverse incision is more effective.
Sweet Potato Value Chain Analysis Reveals Opportunities for Increased Income and Food Security in Northern Ghana
Authors: Sugri Issah , Maalekuu Bonaventure Kissinger , Gaveh Eli , Kusi Francis
Published: November 2017

Sweet potato has gained prominence due to its ability to adapt to wide production ecologies and yield response to minimal external inputs. Orange-fleshed cultivars in particular have immense potential to improve household income and nutrition in sub-Saharan Africa. However, the sweet potato value chain (SPVC) is not well-developed in many producing countries. The study was conducted in two regions to characterize the production operations as well as identify opportunities to propel the SPVC in Northern Ghana. Data were collected using mixed methods including structured questionnaires via face-to-face interviews. Analysis of strengths, weaknesses, opportunities, and threats (SWOT) was conducted at multistakeholder platforms with different actors. Gross margin profit and benefit-cost ratios were determined by using six cost variables. Overall, the industry was largely a fresh produce market, targeting food vendors, processors, and direct selling to wholesalers, retailers, and household consumers. The SWOT analysis revealed wide-ranging opportunities including favourable production ecologies, processing options, and insatiable local and international markets. The institutional actors need to network the primary actors to synergistically operate with a collective profit motive. The most prioritized production constraints such as access to seed, cost of chemical fertilizer, short shelf-life, field pests and diseases, and declining soil fertility should be addressed.
Nanotribological Properties of Graphite Intercalation Compounds: AFM Studies
Authors: Chen Zhiwei , Guo Dan , Si Lina , Xie Guoxin
Published: November 2017

Tetraalkylammonium salts have larger ions than metal ions, which can greatly change the interlayer space and energy, and then potentially tune the properties of graphite. In this work, various graphite intercalation compounds (GICs) have been synthesized by intercalating tetraoctylammonium bromide (TOAB) ions into graphite through electrochemical interactions under different reduction potentials. Different degrees of expansion between graphite layers as well as their corresponding structures and topographies have been characterized by different analytical techniques. The nanoscale friction and wear properties of these GICs have been investigated by AFM-based nanofrictional and scratch tests. The results show that electrochemical intercalation using tetraalkylammonium salts with different interaction potentials can tune the friction and wear properties of graphite. Under relatively large applied loads of AFM tips, friction increase and wear can be easier to occur with the increase of the intercalation potential. It is inferred that the increases of both the interlayer space of graphite and the number of ions on the surface give rise to puckered effect and formation of rougher surfaces. This work gives us deep insight into the friction and wear properties of GICs as composite lubrication materials, which would be of great help for material design and preparation.
A Study on Knowledge, Awareness, and Medication Adherence in Patients with Hypertension from a Tertiary Care Centre from Northern Sri Lanka
Authors: Pirasath S. , Kumanan T. , Guruparan M.
Published: November 2017

Objective. To assess the patient’s knowledge and awareness about hypertension and adherence to antihypertensive medication among hypertensive patients with validated Morisky questionnaires in a tertiary care centre of northern Sri Lanka. Methods. A cross-sectional descriptive comparative study was carried out at Teaching Hospital Jaffna, from January 2017 to April 2017. Hypertensive patients were recruited by systematic randomized controlled sampling and interviewed with validated Morisky questionnaires to assess their knowledge about hypertension. Data were analyzed using SPSS (version 21) analytical package. Results. 73 of 303 patients were males. 69.9% of patients had adequate knowledge about hypertension. 40.5% of patients were unaware of their disease status. 75.8% of patients could not recall their blood pressure values at the time of diagnosis. 72.3% of patients were unaware of their values of blood pressure during their last outpatient clinic visit. 48.2% of patients had awareness of target organ damage due to hypertension (kidney, 72, 23.7%; heart, 128, 42.2%; brain, 140, 46.7%; eye, 42, 13.8%). Most of the patients had poor drug compliance. The most common reasons for nonadherence were forgetfulness (70, 23.1%) and interruptions of daily routine (53, 17.5%). Conclusion. The knowledge about hypertension among majority of patients was reasonable. But they were unaware of their disease status. The drug compliance among them was poor. Forgetfulness and interruptions of daily routine were common reasons attributed for nonadherence.
Recent Advances of Cell-Cycle Inhibitor Therapies for Pediatric Cancer
Authors: Mills Christopher C. , Kolb EA. , Sampson Valerie B.
Published: November 2017

This review describes the pivotal roles of cell-cycle and checkpoint regulators and discusses development of specific cell-cycle inhibitors for therapeutic use for pediatric cancer. The mechanism of action as well as the safety and tolerability of drugs in pediatric patients, including compounds that target CDK4/CDK6 (palbociclib, ribociclib, and abemaciclib), aurora kinases (AT9283 and MLN8237), Wee1 kinase (MK-1775), KSP (ispinesib), and tubulin (taxanes, vinca alkaloids), are presented. The design of mechanism-based combinations that exploit the cross-talk of signals activated by cell-cycle arrest, as well as pediatric-focused drug development, are critical for the advancement of drugs for rare childhood diseases. Cancer Res; 77(23); 6489–98. ©2017 AACR.
Targeting the Lysosome for Cancer Therapy
Authors: Towers Christina G. , Thorburn Andrew
Published: November 2017

Summary: Lysosomes are the recycling centers of the cell where organelles and proteins are degraded during autophagy and macropinocytosis; they also serve as signaling hubs that control the activity of mTORC1. In this issue, Rebecca and colleagues report the development of a new type of lysosomal inhibitor for cancer therapy that can inhibit multiple lysosomal activities that are needed for tumor cell survival and growth. Cancer Discov; 7(11); 1218–20. ©2017 AACR.

See related article by Rebecca et al., p. 1266.
The Clinical Inadequacy of the Placebo Model and the Development of an Alternative Conceptual Framework
Authors: Fava Giovanni A. , Guidi Jenny , Rafanelli Chiara , Rickels Karl
Published: November 2017

Placebo effects are often attributed to clinical interactions and contextual factors that affect expectations of the patient about the treatment and result in symptom changes. The prevailing conceptualization consists of an undifferentiated placebo response that needs to be minimized in controlled investigations and maximized in clinical practice. However, treatment outcome is the cumulative result of the interaction of several classes of variables with a selected treatment: living conditions (housing, nutrition, work environment, social support), patient characteristics (age, sex, genetics, general health conditions, personality, well-being), illness features and previous therapeutic experience, self-management, and treatment setting (physician's attitude and attention, illness behavior). Such variables may be therapeutic or countertherapeutic, and are unlikely to be simply additive. In certain patients their interactive combination may lead to clinical improvement, whereas in other cases it may produce no effect, and, in a third group, it may lead to worsening of the condition. Maximizing patients' expectations does not necessarily result in sustained effects and, in due course, may actually lead to worsening of the condition (violation of expectations). In this paper, we outline a multifactorial conceptual model that may have implications for the design of clinical trials as well as for clinical practice, with special reference to psychopharmacology and psychotherapy. The effects of drug treatment may be potentiated by specific nonpharmacological treatment strategies, and this synergism may disclose significant differences against placebo. Medical outcomes may be unsatisfactory not because technical interventions are missing, but because our conceptual models and thinking are inadequate.
Gastric Adenocarcinoma with Dual Differentiation toward Neuroendocrine and α-Fetoprotein-Producing Features: Report of 2 Cases
Authors: Iida Shun , Ban Shinichi , Kato Keizo , Endo Shinji , Matsuo Ryota , Hirano Kosuke , Okuyama Takashi , Yamagata Yukinori , Ueda Yoshihiko
Published: November 2017

Some gastric carcinomas show composite features of neuroendocrine carcinoma (NEC) and α-fetoprotein (AFP)-producing carcinoma, which are very rare; only a few cases have been reported to date. We reviewed an additional 2 such cases of gastric carcinoma, which were both advanced aggressive tumors showing regional lymph node metastasis and distant metastasis. Both cases were accompanied by ordinary adenocarcinoma forms, implying that they had preceded the NEC and AFP-producing carcinoma components. A distinctive feature was the finding suggestive of dual differentiation of tumor cells to neuroendocrine and AFP-producing phenotypes, which was identified even in the metastatic tumor in the regional lymph node. Because both tumors predominantly showed poorly differentiated forms, the final pathologic diagnosis must rely on the immunohistochemistry. Pathologists should always keep in mind the existence of such tumors for the correct diagnosis of some gastric carcinomas with specific phenotypes, especially in pathologic diagnosis on biopsy.
Implementation of a New High-Volume Circular Stapler in Stapled Anopexy for Hemorrhoidal Disease: Is Patient’s Short-Term Outcome Affected by a Higher Volume of Resected Tissue?
Authors: Grotenhuis Brechtje A. , Nonner Joost , de Graaf Eelco J.R. , Doornebosch Pascal G.
Published: November 2017

Background: Stapled anopexy is a safe technique for the treatment of hemorrhoids but carries a higher risk of recurrence, which might be caused due to the limited volume of resected tissue. In this study, we investigated the introduction of a high-volume circular stapling device; in particular whether an increased amount of resected tissue could affect patients’ short-term postoperative outcome. Methods: Between 2011 and 2015, stapled anopexy was performed for hemorrhoids and/or anal prolapse in 141 patients (n = 25 conventional PPH-3©-stapler versus n = 116 high-volume CHEX©-stapler). In this prospectively collected dataset, operation details and short-term postoperative outcome were compared. Results: With the high-volume stapler, a significantly higher amount of tissue was resected: 9.8 g (range 6.2–11.4) vs. 6.4 g (range 4.9–8.8) with the conventional stapler, p < 0.01. Postoperative short-term outcome did not differ in terms of readmission and complication rates. In all 5 patients who underwent a redo operation for residual hemorrhoids or prolapse, the high-volume stapler was used in the primary operation. Conclusion: A high-volume stapling device for stapled anopexy was introduced safely with a significantly higher amount of resected tissue without a worse short-term outcome. However, it remains unclear whether higher stapling volumes may lead to improved long-term outcome with less reinterventions.
Is Colonoscopy Indicated in Young Patients with Hematochezia
Authors: Koh Frederick H. , Seah Aaron , Chan Dedrick , Ng Jingyu , Tan Ker-Kan
Published: November 2017

Background/Aims: While colonoscopy is indicated in patients >50 years old presenting with hematochezia, its role in those ≤50 remains debatable. This study aims to evaluate the role of colonoscopy in patients presenting with hematochezia who are ≤50 years old. Methods: A retrospective review of all patients aged ≤50 years who underwent colonoscopy for hematochezia in 2012 was conducted. Patient demographics, endoscopic details, and histological results were analyzed. Patients were stratified by age to compare differences in outcome. Results: A total of 361 patients with a median age of 44 (range, 18-50) years were reviewed. Hemorrhoid (n = 183, 69.6%) was the most common etiology. Seventy-two neoplastic polyps were identified in 48 (13.3%) patients. There was a significantly larger proportion of patients aged 41-50 years who had neoplastic polyps compared to those aged ≤40 (18.8 vs. 3.8%, p ≤ 0.001); 43.8% (n = 28) of the neoplastic polyps found in those aged 41-50 were proximal to the splenic flexure. The only 2 (0.5%) patients with malignancy were aged 41-50 years. Conclusion: Performing colonoscopy in patients presenting with hematochezia should be strongly considered for those aged 41-50 years in view of the significant likelihood of underlying neoplastic polyps compared to those aged ≤40 years.
The Correlation of Serum Brain Natriuretic Peptide and Interleukin-6 with Quality of Life Using the Chronic Obstructive Pulmonary Disease Assessment Test
Authors: Ghobadi Hassan , Aslani Mohammad Reza , Hosseinian Adalat , Farzaneh Esmaeil
Published: November 2017

Objective: The aim of this study was to determine the levels of serum pro-brain natriuretic peptide (pro-BNP) and interleukin (IL)-6 in patients with stable chronic obstructive pulmonary disease (COPD) and to correlate these markers with health-related quality of life using the COPD assessment test (CAT). Materials and Methods: Serum pro-BNP and IL-6 levels were measured in 82 patients with stable COPD. Serum pro-BNP and serum IL-6 levels, pulmonary function, and oxygen saturation (SpO2) were measured according to the Global Initiative for Chronic Obstructive Lung Disease (GOLD) stage and CAT score. Also, the associations of both pro-BNP and IL-6 with the clinical parameters of patients were tested. Results: The serum levels of IL-6 (7.57 [5-11.16] pg/mL) and pro-BNP (120.55 [92.89-144.20] pg/mL) were higher with enhancing disease severity based on the GOLD classification (p = 0.034 and 0.068, respectively). Also, serum levels of pro-BNP (120.55 [89.50-147.90] pg/mL) and IL-6 (6.68 [4.40-11.97] pg/mL) were increased in patients with high CAT scores (p = 0.004 and 0.017, respectively). There was a significant positive correlation between plasma pro-BNP and IL-6 levels (r = 0.332, p = 0.002). Conclusion: The results demonstrated that with increased severity of obstruction based on the GOLD criteria both IL-6 and pro-BNP were elevated. This increase in inflammatory markers was associated with a reduced quality of life and the severity of hypoxia. These findings indicated that lowering IL-6 and pro-BNP could be useful in the management of COPD patients.
Interrogation of the Atherosclerosis-Associated
SORT1
(Sortilin 1) Locus With Primary Human Hepatocytes, Induced Pluripotent Stem Cell-Hepatocytes, and Locus-Humanized Mice
Authors: Wang Xiao , Raghavan Avanthi , Peters Derek T. , Pashos Evanthia E. , Rader Daniel J. , Musunuru Kiran
Published: November 2017

Objective—

The noncoding single-nucleotide polymorphism rs12740374 has been hypothesized to be the causal variant responsible for liver-specific modulation of
SORT1
(sortilin 1) expression (ie, expression quantitative trait locus) and, by extension, the association of the
SORT1
locus on human chromosome 1p13 with low-density lipoprotein cholesterol levels and coronary heart disease. The goals of this study were to compare 3 different hepatocyte models in demonstrating that the rs12740374 minor allele sequence is responsible for transcriptional activation of
SORT1
expression.

Approach and Results—

We found that although primary human hepatocytes of varied rs12740374 genotypes strongly replicated the
SORT1
expression quantitative trait locus observed previously in whole-liver samples, a population cohort of induced pluripotent stem cell–derived hepatocyte-like cells poorly replicated the expression quantitative trait locus. In primary human hepatocytes from multiple individuals heterozygous at rs12740374, we used CRISPR-Cas9 (clustered regularly interspaced short palindromic repeats–associated 9) to specifically target the rs12740374 minor allele sequence ex vivo, resulting in a reproducible reduction in
SORT1
expression. We generated a locus-humanized transgenic mouse with a bacterial artificial chromosome bearing the human
SORT1
locus with the rs12740374 minor allele. In this mouse model, we used CRISPR-Cas9 to target the rs12740374 minor allele sequence in the liver in vivo, resulting in a substantial reduction of hepatic
SORT1
expression.

Conclusions—

The rs12740374 minor allele sequence enhances
SORT1
expression in hepatocytes. CRISPR-Cas9 can be used in primary human hepatocytes ex vivo and locus-humanized mice in vivo to interrogate the function of noncoding regulatory regions. Induced pluripotent stem cell–derived hepatocyte-like cells experience limitations that prevent faithful modelling of some hepatocyte expression quantitative trait loci.