bluuebunny/crossref_metadata_2025_split huggingface dataset:
Abnormal copper metabolism in Niemann–Pick disease type C mimicking Wilson's disease
Authors: Sakiyama Yoshio , Narita Aya , Osawa Shou , Nanba Eiji , Ohno Kousaku , Otsuka Mieko 
Published: August 2014

AbstractBackgroundNiemann–Pick disease type C is a rare lysosomal storage disease in infants, adolescents and adults.AimWe investigated a family with two siblings who have adult‐onset Niemann–Pick disease type C presenting with abnormal copper metabolism mimicking Wilson's disease.MethodsCase 1 was a 26‐years‐old Japanese man without consanguinity, and was referred to the hospital outpatient clinic for recent gait disturbance and intellectual deterioration developing since the age of 20 years. He was tentatively diagnosed as a heterozygous carrier of Wilson's disease, because his brother (case 2) had been diagnosed with Wilson's disease. He presented with dementia, dysphagia, dystonia, ataxia and downward gaze palsy. Laboratory study showed mild liver dysfunction and moderate splenomegaly. Magnetic resonance images showed a thin corpus callosum and narrowed deep white matter. Case 2 35 years‐of‐age, and had developed psychiatric and motor symptoms since 20 years‐of‐age. He had been treated for Wilson's disease for 11 years due to a copper deposit in his liver and abnormal copper metabolism. Symptoms had exacerbated gradually despite chelation therapy and tube feeding with gastrostomy for a year. Molecular diagnostics for Niemann–Pick disease type C were carried out.ResultsFilipin staining in cultured skin fibroblasts of case 1 was partially positive, and gene analysis showed that both siblings had compound heterozygosity for p.G992R in exon 20 and IVS6‐3 C>G of NPC1. Administration of miglustat for 3 months partially ameliorated their intellectual and motor dysfunction.ConclusionThe differential diagnosis between Niemann–Pick disease type C and Wilson's disease is important for specific treatment.
Troubleshooting in hospitalized Parkinson's disease patients with a history of deep brain stimulation of the subthalamic nucleus
Authors: Oyama Genko , Shimo Yasushi , Umemura Atsushi , Nishikawa Natsuko , Nakajima Asuka , Takayuki Jo , Nakajima Madoka , Ishii Hisato , Arai Hajime , Hattori Nobutaka 
Published: August 2014

AbstractBackgroundDeep brain stimulation is a treatment option for patients with Parkinson's disease who have motor complications, such as wearing off and dyskinesia. However, in some cases, the benefits of deep brain stimulation seem to diminish over time.AimWe aimed to investigate the reasons for hospitalization of Parkinson's disease patients who were previously implanted with subthalamic nucleus deep brain stimulation devices. We also aimed to investigate the efficacy of our management of problems related to deep brain stimulation and/or Parkinson's disease‐related neurological symptoms.MethodsA retrospective chart review was carried out on all hospitalized cases of patients who were previously implanted subthalamic nucleus deep brain stimulation at our hospital or other institutions.ResultsA total of 78 hospitalizations (47 patients) were identified. Of these, 34 hospitalizations (24 patients) were as a result of worsening of Parkinson's disease‐related or stimulation‐related problems. The reasons for 34 hospitalizations included wearing‐off/on‐off (n = 17), dyskinesia (n = 12), gait disturbance (n = 5), dysarthria (n = 4), camptocormia (n = 5), hallucination (n = 6) and other psychiatric problems (n = 10). Most of these problems were successfully managed by adjusting both medications and stimulation parameters (31 cases, 91.2%). No case was improved by only adjusting stimulation. The Unified Parkinson's Disease Rating Scale part III score improved by 24.5% (P = 0.02) by hospitalized management.ConclusionAppropriate management of medications and stimulation are most important for patients who have already undergone deep brain stimulation in order to maximize the benefits.
Chronic cerebral hypoperfusion and dementia
Authors: Yata Kenichiro , Tomimoto Hidekazu 
Published: August 2014

Abstract“Cerebral small vessel disease” is a general term featuring a group of disease conditions with characteristic lesions affecting mainly small vessels in the brain, such as Binswanger's disease, leukoaraiosis and lacunar infarctions. Cerebral small vessels consist of a series of blood vessels, which originate from the pial arteries on the surface of the brain, and branch into arterioles, capillaries and postcapillary venules. Each of the blood vessels has a distinct structure and function. The blood–brain barrier, which does not exist in the other organs, functions in the brain. Dysfunction of the blood–brain barrier is thought to be a major cause of cerebral small vessel diseases. Recent findings have shown that maintenance of the blood–brain barrier is kept by various types of cells, such as vascular endothelial cells, astrocytes and pericytes, which work collaboratively as a neurovascular unit. Currently, larger vessels at the arteriolar level have been studied intensively; however, the pathological condition of the neurovascular unit at the capillary level still needs to be elucidated. The bilateral carotid artery stenosis model simulates chronic cerebral hypoperfusion, formation of white matter lesions and cognitive impairments seen in humans. Using this model, we found microcirculation disturbance especially in the postcapillary venule, and postulated it as a final step leading to white matter lesions and cognitive impairment. Taken together, we suggest that chronic cerebral hypoperfusion plays a pivotal role in the pathogenesis of cerebral small vessel diseases.
Imaging in multiple system atrophy
Authors: Chandran Vijay , Stoessl A Jon 
Published: August 2014

AbstractThe diagnosis of multiple system atrophy and its differentiation from Parkinson's disease can be challenging, particularly in early disease. Both structural and functional imaging studies can be helpful for making the diagnosis, and could potentially be used to monitor disease progression. Magnetic resonance imaging can show distinctive patterns of atrophy and signal changes in multiple system atrophy, such as the “hot cross bun” and hyperintense putaminal rim signs, which are relatively specific, but have low sensitivity. Diffusivity might be particularly helpful in differentiating multiple system atrophy from Parkinson's disease, and appears to change over time, although the correlation with changes in motor dysfunction is uncertain. Diffusion weighted imaging changes in the middle cerebellar peduncle can also reliably separate multiple system atrophy from progressive supranuclear palsy. Volumetry detects characteristic patterns of atrophy. Alterations in spectroscopic patterns and abnormal iron deposition have also been reported. Positron emission tomography or single‐photon emission computed tomography measures of striatal dopamine innervation are abnormal in multiple system atrophy and Parkinson's disease; the addition of dopamine D2 receptor imaging (preserved in Parkinson's disease) can be helpful in differentiating the two. However, fluorodeoxyglucose positron emission tomography shows different characteristic metabolic networks in the two conditions that change with disease progression, and is probably more useful. Functional imaging can also be used to detect changes in cholinergic innervation in multiple system atrophy, and to study neuroinflammation. Imaging of cardiac sympathetic innervation can also differentiate between Parkinson's disease and multiple system atrophy, and might be underutilized for this purpose.
Photocatalysis of Chloroform Decomposition by Tetrachlorocuprate (II) on Dowex 2‐X8
Authors: Harvey Brent M. , Hoggard Patrick E. 
Published: August 2014

AbstractHeterogenized on a polystyrene anion exchange resin and in the presence of oxygen, catalyzes the photodecomposition of chloroform at wavelengths above 345 nm with greater efficiency than an equivalent amount in homogeneous solution. The reaction is proposed to proceed in two stages, the first stage yielding CCl4 and as products, the second consisting of a chain reaction resulting from the ‐catalyzed photodissociation of CCl4, yielding phosgene with CCl3 radicals as chain carriers. Photodecomposition is retarded by added Cl−, CH3CN, C6H12 or C2H5OH, which is ascribed to the displacement of CHCl3 molecules from the vicinity of the copper by attraction to the polystyrene matrix or to the alkylammonium cation sites.
A review on fish growth calculation: multiple functions in fish production and their specific application
Authors: Lugert Vincent , Thaller Georg , Tetens Jens , Schulz Carsten , Krieter Joachim 
Published: August 2014

AbstractModern aquaculture recirculation systems (RASs) are a necessary tool to provide sustainable and continuous aquaculture production with low environmental impact. But, productivity and efficiency of such RAS still have to be optimized to ensure economic viability, putting growth performance into the focus. Growth is often reported as absolute (gain per day), relative (percentage increase in size) or specific growth rate (percentage increase in size per day), based on stocking and harvesting data. These functions describe growth very simplified and are inaccurate because intermediate growth data are not considered. In contrast, nonlinear growth models attempt to provide information of growth across different life stages. On the basis of an empirical RAS data set of 150 all‐female turbot reared in an RAS during a period of 340 days of outgrowth, this paper reviews the most commonly used growth rates (relative, absolute, specific), the thermal‐unit growth coefficient and five nonlinear growth functions (logistic, Gompertz, von Bertalanffy, Kanis and Schnute). Goodness of fit is expressed by R2 and as mean percentage deviation. Nonlinear growth models are also compared by their residual standard error (RSE) and the Akaike information criterion. All processed functions are modelled to illustrate the shape of the generated curve and the possibility of the function to realistically predict growth. Further, the biological meaning of their regression parameters is discussed. This way we can point out differences in nonlinear growth models in contrast to purely descriptive growth rates and the specific advantages, disadvantages and possible applications of each function we review.
Perioperative changes of procalcitonin levels in patients undergoing liver transplantation
Authors: Kaido T. , Ogawa K. , Fujimoto Y. , Mori A. , Hatano E. , Okajima H. , Uemoto S. 
Published: August 2014

AbstractBackgroundSevere sepsis is a life‐threatening complication after liver transplantation (LT) that can be difficult to diagnose and appropriately treat after LT because of patients being treated with immunosuppressants. The present study examines perioperative changes in serum procalcitonin (PCT), a specific marker of systemic bacterial infection, and determines the value of PCT as a diagnostic tool for bacteremia or rejection.MethodsPerioperative serum PCT levels were prospectively assessed in 104 consecutive adult patients undergoing LT (living‐donor LT, n = 90; deceased‐donor LT, n = 14) between May 2010 and August 2012.ResultsSerum PCT levels remarkably increased soon after LT and gradually decreased thereafter, but were not increased in patients diagnosed with cytomegalovirus infection or acute cellular rejection. Serum PCT levels in patients who underwent deceased‐donor LT were significantly higher than in those who underwent living‐donor LT until postoperative day (POD) 7. Serum PCT levels were significantly higher in patients with bacteremia than in those without bacteremia after POD 14. In patients with post‐transplant bacteremia, PCT levels increased again after POD 7 in patients who died within 3 months of LT, while levels remained low after POD 7 in patients who were alive. A positive predictive value of 83.3% for bacteremia and a negative predictive value of 97.4% were obtained at PCT cutoffs of 2.0 and 0.5 ng/mL, respectively.ConclusionSerum PCT measurement, using appropriate cutoff values, could help diagnose severe infection, and might be able to differentiate bacteremia from acute cellular rejection.
Hepatitis B virus (HBV) reverse seroconversion (RS) can be prevented even in non‐responders to hepatitis B vaccine after allogeneic stem cell transplantation: long‐term analysis of intervention in RS with vaccine for patients with previous HBV infection
Authors: Takahata M. , Hashino S. , Onozawa M. , Shigematsu A. , Sugita J. , Fujimoto K. , Endo T. , Kondo T. , Tanaka J. , Imamura M. , Teshima T. 
Published: August 2014

AbstractBackgroundReactivation of hepatitis B virus (HBV) infection, reverse seroconversion (RS), is a serious complication after allogeneic stem cell transplantation (alloHSCT). We previously conducted a post‐transplant hepatitis B vaccine intervention trial and demonstrated the vaccine efficacy in preventing HBV‐RS. This report is an update of the hepatitis B vaccine study.MethodsIn this trial, 21 patients were enrolled and received a standard 3‐dose regimen of hepatitis B vaccine after discontinuation of immunosuppressants, whereas 25 transplant recipients with previous HBV infection did not receive the vaccine and served as controls.ResultsNone of the 21 patients in the vaccine group developed HBV‐RS and 12 controls developed HBV‐RS in median follow‐up periods of 60 months (range 13–245). HBV vaccine resulted in a positive value of hepatitis B surface antibody (HBsAb) titer in 9 patients, while HBsAb remained negative in 12 patients. Presence of a high titer of HBsAb before vaccination was associated with conversion into HBsAb positivity after vaccination.ConclusionThese results demonstrated the long‐term effects of HBV vaccine for preventing HBV‐RS after alloHSCT. Of note, no HBV‐RS occurred, even in patients who did not achieve conversion into HBsAb positivity after vaccination.
Pulmonary leucostasis syndrome presented by unilateral pulmonary infiltrates
Authors: Trof Ronald Jan , Schaafsma Ron , Beishuizen Bert 
Published: August 2014

SummaryA 48-year-old woman presented with suspected acute myelogenous leukaemia with a leucocyte count of 80×109/L. On admission, she had high fever and shortness of breath. Chest X-ray demonstrated unilateral consolidations of right lung suggestive for pneumonia and broad spectrum antibiotics were started. Her condition rapidly deteriorated and despite the clinical diagnosis of pulmonary leucostasis and treatment with leucapheresis the patient died within 2 days after admission from progressive respiratory failure and multiorgan failure. Autopsy showed diffuse leucostasis in the pulmonary capillaries. The present case illustrates that pulmonary leucostasis may be presented by unilateral chest X-ray abnormalities and without clear neurological symptoms (headache and blurred vision). Clinicians should be aware of this since delayed treatment may increase mortality.
Impact of Infrared, Microwave, and Radio Occultation Satellite Observations on Operational Numerical Weather Prediction
Authors: Cucurull L. , Anthes R. A. 
Published: August 2014

Abstract
A comparison of the impact of infrared (IR), microwave (MW), and radio occultation (RO) observations on NCEP’s operational global forecast model over the month of March 2013 is presented. Analyses and forecasts with only IR, MW, and RO observations are compared with analyses and forecasts with no satellite data and with each other. Overall, the patterns of the impact of the different satellite systems are similar, with the MW observations producing the largest impact on the analyses and RO producing the smallest. Without RO observations, satellite radiances are over– or under–bias corrected and RO acts as an anchor observation, reducing the forecast biases globally. Positive correlation coefficients of temperature impacts are generally found between the different satellite observation analyses, indicating that the three satellite systems are affecting the global temperatures in a similar way. However, the correlation in the lower troposphere among all three systems is surprisingly small. Correlations for the moisture field tend to be small in the lower troposphere between the different satellite analyses. The impact of the satellite observations on the 500-hPa geopotential height forecasts is much different in the Northern and Southern Hemispheres. In the Northern Hemisphere, all the satellite observations together make a small positive impact compared to the base (no satellite) forecasts. The IR and MW, but not the RO, make a small positive impact when assimilated alone. The situation is considerably different in the Southern Hemisphere, where all the satellite observations together make a much larger positive impact, and all three observation types (IR, MW, and RO) make similar and significant impacts.
Spectral and mode properties of surface plasmon polariton waveguides studied by near-field excitation and leakage-mode radiation measurement
Authors: Pan Ming-Yang , Lin En-Hong , Wang Likarn , Wei Pei-Kuen 
Published: August 2014

Abstract
We present a method to couple surface plasmon polariton (SPP) guiding mode into dielectric-loaded SPP waveguide (DLSPPW) devices with spectral and mode selectivity. The method combined a transmission-mode near-field spectroscopy to excite the SPP mode and a leakage radiation optical microscope for direct visualization. By using a near-field fiber tip, incident photons with different wavelengths were converted into SPPs at the metal/dielectric interface. Real-time SPP radiation images were taken through leakage radiation images. The wavelength-dependent propagation lengths for silver- and gold-based DLSPPWs were measured and compared. It confirms that silver-based SPP has a propagation length longer than a gold-based one by 1.25, 1.38, and 1.52 times for red, green, and blue photons. The resonant coupling as a function of wavelength in dual DLSPPWs was measured. The coupling lengths measured from leakage radiation images were in good agreement with finite-difference time domain simulations. In addition, the propagation profile due to multi-SPP modes interference was studied by changing position of the fiber tip. In a multimode DLSPPW, SPP was split into two branches with a gap of 2.237 μm when the tip was at the center of the waveguide. It became a zigzag profile when the SPP was excited at the corner of the waveguide.
Metastatic tumor evolution and organoid modeling implicate TGFBR2as a cancer driver in diffuse gastric cancer
Authors: Nadauld Lincoln D , Garcia Sarah , Natsoulis Georges , Bell John M , Miotke Laura , Hopmans Erik S , Xu Hua , Pai Reetesh K , Palm Curt , Regan John F , Chen Hao , Flaherty Patrick , Ootani Akifumi , Zhang Nancy R , Ford James M , Kuo Calvin J , Ji Hanlee P 
Published: August 2014

Abstract
Background
Gastric cancer is the second-leading cause of global cancer deaths, with metastatic disease representing the primary cause of mortality. To identify candidate drivers involved in oncogenesis and tumor evolution, we conduct an extensive genome sequencing analysis of metastatic progression in a diffuse gastric cancer. This involves a comparison between a primary tumor from a hereditary diffuse gastric cancer syndrome proband and its recurrence as an ovarian metastasis.

Results
Both the primary tumor and ovarian metastasis have common biallelic loss-of-function of both the CDH1 and TP53 tumor suppressors, indicating a common genetic origin. While the primary tumor exhibits amplification of the Fibroblast growth factor receptor 2 (FGFR2) gene, the metastasis notably lacks FGFR2 amplification but rather possesses unique biallelic alterations of Transforming growth factor-beta receptor 2 (TGFBR2), indicating the divergent in vivo evolution of a TGFBR2-mutant metastatic clonal population in this patient. As TGFBR2 mutations have not previously been functionally validated in gastric cancer, we modeled the metastatic potential of TGFBR2 loss in a murine three-dimensional primary gastric organoid culture. The Tgfbr2 shRNA knockdown within Cdh1
-/-
; Tp53
-/-
organoids generates invasion in vitro and robust metastatic tumorigenicity in vivo, confirming Tgfbr2 metastasis suppressor activity.

Conclusions
We document the metastatic differentiation and genetic heterogeneity of diffuse gastric cancer and reveal the potential metastatic role of TGFBR2 loss-of-function. In support of this study, we apply a murine primary organoid culture method capable of recapitulating in vivo metastatic gastric cancer. Overall, we describe an integrated approach to identify and functionally validate putative cancer drivers involved in metastasis.
Development of synchronous VHL syndrome tumors reveals contingencies and constraints to tumor evolution
Authors: Fisher Rosalie , Horswell Stuart , Rowan Andrew , Salm Maximilian P , de Bruin Elza C , Gulati Sakshi , McGranahan Nicholas , Stares Mark , Gerlinger Marco , Varela Ignacio , Crockford Andrew , Favero Francesco , Quidville Virginie , André Fabrice , Navas Carolina , Grönroos Eva , Nicol David , Hazell Steve , Hrouda David , O’Brien Tim , Matthews Nik , Phillimore Ben , Begum Sharmin , Rabinowitz Adam , Biggs Jennifer , Bates Paul A , McDonald Neil Q , Stamp Gordon , Spencer-Dene Bradley , Hsieh James J , Xu Jianing , Pickering Lisa , Gore Martin , Larkin James , Swanton Charles 
Published: August 2014

Abstract
Background
Genomic analysis of multi-focal renal cell carcinomas from an individual with a germline VHL mutation offers a unique opportunity to study tumor evolution.

Results
We perform whole exome sequencing on four clear cell renal cell carcinomas removed from both kidneys of a patient with a germline VHL mutation. We report that tumors arising in this context are clonally independent and harbour distinct secondary events exemplified by loss of chromosome 3p, despite an identical genetic background and tissue microenvironment. We propose that divergent mutational and copy number anomalies are contingent upon the nature of 3p loss of heterozygosity occurring early in tumorigenesis. However, despite distinct 3p events, genomic, proteomic and immunohistochemical analyses reveal evidence for convergence upon the PI3K-AKT-mTOR signaling pathway. Four germline tumors in this young patient, and in a second, older patient with VHL syndrome demonstrate minimal intra-tumor heterogeneity and mutational burden, and evaluable tumors appear to follow a linear evolutionary route, compared to tumors from patients with sporadic clear cell renal cell carcinoma.

Conclusions
In tumors developing from a germline VHL mutation, the evolutionary principles of contingency and convergence in tumor development are complementary. In this small set of patients with early stage VHL-associated tumors, there is reduced mutation burden and limited evidence of intra-tumor heterogeneity.
CRISPR-mediated genome editing of Plasmodium falciparum malaria parasites
Authors: Lee Marcus CS , Fidock David A 
Published: August 2014

AbstractThe development of the CRISPR-Cas system is revolutionizing genome editing in a variety of organisms. The system has now been used to manipulate the genome of Plasmodium falciparum, the most lethal malaria-causing species. The ability to generate gene deletions or nucleotide substitutions rapidly and economically promises to accelerate the analysis of novel drug targets and to help elucidate the function of specific genes or gene families, while complementing genome-wide association studies.