bluuebunny/crossref_metadata_2025 huggingface dataset:
Primary tracheobronchial amyloidosis
Authors: Li D , Shi Z , Wang Y , Thakur A
Published: September 2013

Primary tracheobronchial amyloidosis (PTBA) is a localized form of amyloidosis. The clinical signs of this condition are non-specific and diagnosis before bronchoscopic examination with multiple biopsies is uncommon. We present three cases of PTBA and compare findings between the thoracic imaging and fiberoptic bronchoscopy. Radiographic findings often had uncharacteristic features. The relatively specific coronal section CT preceded findings in transverse sections, and showed an irregular mucosal surface with diffuse prominent nodes and/or calcification of the tracheobronchus, which we called the "wavy path sign". In conclusion, coronal CT scan can provide ample clues for the early diagnosis of PTBA.
Specific Profile of Tau Isoforms in Argyrophylic Grain Disease
Authors: Rábano Alberto , Cuadros Raquel , Calero Miguel , Hernández Félix , Avila Jesús
Published: September 2013

Argyrophylic grain disease (AGD) is a neurodegenerative condition that has been classified among the sporadic tauopathies. Entities in this group present intracellular aggregates of hyperphosphorylated tau, giving rise to characteristic neuronal and glial inclusions. In different tauopathies, the proportion of several tau isoforms present in the aggregates shows specific patterns. AGD has been tentatively classified in the 4R group (predominance of 4R tau isoforms) together with progressive supranuclear palsy and corticobasal degeneration. Pick's disease is included in the 3R group (predominance of 3R isoforms), whereas tau pathology of Alzheimer's disease represents and intermediate group (3 or 4 repeats [3R plus 4R, respectively] isoforms). In this work, we have analyzed tau present in aggregates isolated from brain samples of patients with argyrophylic grain disease. Our results indicate that the main tau isoform present in aggregates obtained from patients with AGD is a hyperphosphorylated isoform containing exons 2 and 10 but lacking exon 3.
A Review of Hypodontia: Classification, Prevalence, Etiology, Associated Anomalies, Clinical Implications and Treatment Options
Authors: AlQarni Mohammed Ali , Togoo Rafi A , AlShahrani Ibrahim
Published: September 2013

A retrospective review of literature was carried out to determine the classification, prevalence, etiology, associated anomalies, clinical implications and treatment options for hypodontia. Many methods of classification have been reported in the literature. Some researchers have classified hypodontia as isolated family form or as an inherited form; others have defined the congenital absence of teeth according to the number of missing teeth and yet classified hypodontia according to the severity of the condition. The prevalence of hypodontia in the primary dentition is found to be very low whereas the occurrence of tooth agenesis varies in the permanent dentition based on ethnic and sex differences. The tooth most commonly found to be missing is the third molar. With regard to the remaining 28 teeth, metaanalysis has revealed that the teeth most commonly affected are the mandibular second premolars, maxillary lateral incisors, maxillary second premolars and the mandibular incisors. From the literature it is evident that the etiology of hypodontia is varied and that genetic, epigenetic and environmental factors may be contributory factors. Tooth anomalies reported in the literature to be associated with hypodontia, include microdontia, canine impaction, taurodontism, transposition and rotation of teeth, and hypoplastic alveolar bone. Researchers have suggested that clinical management of hypodontia requires careful multidisciplinary planning and has financial implications. The suggested members of the team should include general dental practitioners, dental nurses, orthodontists, pediatric dentists, prosthodontists, oral and maxillofacial surgeons, specialist laboratory technicians, clinical psychologists, clinical geneticists, dermatologists, speech and language therapists.

How to cite this article

AlShahrani I, Togoo RA, AlQarni MA. A Review of Hypodontia: Classification, Prevalence, Etiology, Associated Anomalies, Clinical Implications and Treatment Options. World J Dent 2013;4(2):117-125.
Maxillary Sinus Functions and Complications with Lateral Window and Osteotome Sinus Floor Elevation Procedures Followed by Dental Implants Placement: A Retrospective Study in 60 Patients
Authors: Al-Almaie Saad , Kavarodi Abdul Majeed , Faidhi Abdullah Al
Published: September 2013

Aim

The aim of the study was to evaluate retrospectively maxillary sinus functions and complications by using generally accepted diagnostic criteria with lateral window and osteotome sinus floor elevation (OSFE) procedures followed by dental implants placement.

Materials and methods

A group of 60 patients in whom a SFE with the two procedures (lateral window and OSFE) followed by dental implants placement had been performed were evaluated retrospectively for sinus functions and complications from the time of procedure up to 24 months using a questionnaire, conventional clinical and radiographic examination.

Results

Number of patients suffered dizziness accompanied by nausea immediately after OSFE was more than the lateral window procedure and the symptoms disappeared within 2 to 4 weeks. Maxillary sinus membrane perforations occurred and small for 4 out of 79 procedures, two cases for OSFE and two for lateral window procedure had been repaired. No more complications had been detected for all the patients up to 24 months.

Conclusion

Based on the results of this study, SFE with lateral window and osteotome procedures followed by dental implants placement did not interfere with maxillary sinus function and no obvious complications had been detected up to 24 months.

Clinical significance

The clinician performs SFE with either lateral window or osteotome procedures needs to understand the difficulties and morbidity arising in the event of complications and must be able to correctly judge the individual risk and the presence of modifying factors that may cause these complications.

How to cite this article

Al-Almaie S, Kavarodi AM, Al Faidhi A. Maxillary Sinus Functions and Complications with Lateral Window and Osteotome Sinus Floor Elevation Procedures Followed by Dental Implants Placement: A Retrospective Study in 60 Patients. J Contemp Dent Pract 2013;14(3):405-413.
Histometric Study of Resorption on Replanted Teeth with Enamel Matrix-derived Protein
Authors: de Oliveira Marcelo Tomas , Bentregani Luiz Guilherme , Pasternak Braulio , Cancelier Fabio Dagostin , de Jesus Diego Rocha , Molina Gustavo Otoboni
Published: September 2013

Background

Enamel matrix-derived proteins (Emdogain) stimulate the proliferation of periodontal ligament cells, contributing to their regeneration.

Aim

This study was to perform histometric assessment of root surface resorption in replanted teeth with the use of Emdogain®.

Materials and methods

Male Wistar rats (Rattus norvegicus), weighing 180 to 200 gm, were anesthetized, subjected to extraction of the upper right incisor tooth, which was then replanted into the alveoli with the following treatment: (a) control group - tooth with root canal filled with calcium hydroxide paste and (b) treated group - tooth with root canal filled with enamel matrix-derived protein. The animals were sacrificed 25 days after tooth replantation. The maxilla was processed to obtain thin sections (6 ì) and stained with hematoxylin and eosin. The resorption volume percentage of each dental element was calculated from the cementoenamel junction to the apex.

Results

Quantification of resorption revealed that Emdogaintreated teeth showed a lower percentage of resorption (31.58%) compared to controls (80.48%) (statistically significant values – t-test p-value = 0.0431).

Conclusion

It was concluded that Emdogain used as root canal filling has properties capable of showing a lower percentage of resorption in replanted teeth.

How to cite this article

de Oliveira MT, Bentregani LG, Pasternak B, Cancelier FD, de Jesus DR, Molina GO. Histometric Study of Resorption on Replanted Teeth with Enamel Matrix-derived Protein. J Contemp Dent Pract 2013;14(3):468-472.
The Effect of Eugenol-Free Temporary Cement's Remnants on Retention of Full Metal Crowns: Comparative Study
Authors: Badrian Hamid , Sabouhi Mahmoud , Nosouhian Saeid , Davoudi Amin , Nourbakhshian Farzaneh , Nabe Fatemeh Naderi
Published: September 2013

Introduction

The aim of this study was to evaluate the effects of eugenol-free temporary cement's remnants on the retentive strength of full metal crowns luted via zinc phosphate and resin cement (Maxcem) to the tooth structure.

Materials and methods

Forty complete standardized Ni-Cr crowns in four groups were cemented by two types of permanent cements: zinc phosphate cement and resin cement (Maxcem). In the two groups before permanent cementation of crowns, temporary acrylic crowns were cemented by eugenol-free temporary cement. Crowns¡¦ retention was evaluated by Universal testing machine. All data were analyzed by means of one-way ANOVA test in SPSS software version 11.5 (α = 0.05).

Results

There was no significant difference in groups with prior using eugenol-free temporary cement and groups with just using two permanents cement (p-value ≥ 0.05).

Discussion

The application of temporary cement before permanent cementation of full metal crowns does not have any adverse effect on retention of full metal crowns, when temporary cements are removed properly.

How to cite this article

Sabouhi M, Nosouhian S, Davoudi A, Nourbakhshian F, Badrian H, Nabe FN. The Effect of Eugenol- Free Temporary Cement's Remnants on Retention of Full Metal Crowns: Comparative Study. J Contemp Dent Pract 2013; 14(3):473-477.
An assessment of cloud top thermodynamic phase products obtained from A-Train passive and active sensors
Authors: Zeng S. , Riedi J. , Parol F. , Cornet C. , Thieuleux F.
Published: September 2013

Abstract. The A-Train observations provide an unprecedented opportunity for the production of high quality dataset describing cloud properties. We illustrate in this study the use of one year of coincident POLDER (Polarization and Directionality of the Earth Reflectance), MODIS (MODerate Resolution Imaging Spectroradiometer) and CALIOP (Cloud-Aerosol Lidar with Orthogonal Polarization) observations to establish a reference dataset for the description of cloud top thermodynamic phase at global scale. We present the results of an extensive comparison between POLDER and MODIS cloud top phase products and discuss those in view of cloud vertical structure and optical properties derived simultaneously from collocated CALIOP active measurements. These results allow to identify and quantify potential biases present in the 3 considered dataset. Among those, we discuss the impacts of observation geometry, thin cirrus in multilayered and single layered cloud systems, supercooled liquid droplets, aerosols, fractional cloud cover and snow/ice or bright surfaces on global statistics of cloud phase derived from POLDER and MODIS passive measurements. Based on these analysis we define criteria for the selection of high confidence cloud phase retrievals which in turn can serve for the establishment of a reference cloud phase product. This high confidence joint product derived from POLDER/PARASOL and MODIS/Aqua can be used in the future as a benchmark for the evaluation of other cloud climatologies, for the assessment of cloud phase representation in models and the development of better cloud phase parametrization in the general circulation models (GCMs).
Psychosocial Aspects of Hip Disease in the Young Adult
Authors: Nisar Aamer , Augustine Angela , Horrey Lynne , Craig David , Meek Robert M. D. , Patil Sanjeev
Published: September 2013

The psychosocial impact of hip disease on the young adult has not been elucidated. This study aimed to identify the functional and psychosocial characteristics of a cohort of young patients (age less than 40 years) presenting to our tertiary care complex hip clinic. A postal questionnaire comprising of a Visual Analogue Scale (VAS) for Pain, the Oswestry Disability Index (ODI) and the Hospital Anxiety and Depression Scale (HADS) was posted to 63 patients. Forty-nine (n = 49) patients (79%) responded to the questionnaire. Mean age was 20 years (range 16-38) with a gender ratio of 2:1 (female: male). More than half of our patients had moderate to severe pain based on the VAS and at least moderate disability on the ODI. HADS showed that 32% and 49% of patients were classified as having borderline to abnormal levels of depression and anxiety respectively. Multiple regression showed ODI scores to be a significant predictor of anxiety and depression. Comparison with asymptomatic controls shows that these patients have significantly worse ODI and HADS scores compared to normal population. This study quantifies the degree of functional and psychosocial compromise present in young patients with hip problems.
Measuring Limb Length Discrepancy Using Pelvic Radiographs: The Most Reproducible Method
Authors: Heaver Catriona , St Mart Jean-Pierre , Nightingale Peter , Sinha Aabha , Davis Edward T.
Published: September 2013

Leg length inequality following total hip replacement remains common. In an effort to reduce this occurrence, surgeons undertake pre-operative measurements, templating and use various forms of intraoperative measurements, including computer navigation. This study aims to delineate which measurement technique is most appropriate for measuring leg length inequality from a pelvic radiograph. Three observers took a total of 9600 measurements from 100 pelvic radiographs.  Four lines were constructed on each of the radiographs, bisecting the acetabular teardrops, ischial spines, inferior sacroiliac joint and inferior obturator foramen. Measurements were taken from these lines to the most prominent medial point on the lesser trochanter and to the tip of the greater trochanter. The effect of pelvic positioning was also assessed using radiographs of a synthetic pelvis and femur. Intra-observer and inter-observer variability were calculated. Measuring from the inferior aspect of the ischial tuberosities to the most prominent medial point on the lesser trochanter appears to be the best method for measuring LLD however large error margin still exist, even when corrected for magnification errors.
Anterior Dislocation after Total Hip Replacement – Effects of Pelvic Rotation and Femoral Head Size
Authors: Ng Fu-Yuen , Wang Qun , Chiu Kwong-Yuen , Yan Chun-Hoi
Published: September 2013

We investigated the effects of pelvic rotation and femoral head diameter on the anterior stability of the hip joint after total hip replacement. Computer navigation and cadaveric bone were used to simulate the range of motion after total hip replacement. The hip was put at 0 degrees of flexion and it was gradually externally rotated until the hip dislocated. The degree of external rotation when the hip was dislocated was recorded. The test was repeated with the hip at +10, −10, −20, −30, −40 and −50 degrees of flexion. The acetabular component was positioned with abduction of 45 degrees and anteversion at 20 degrees. There was a significant difference amongst each group of pelvic rotation from 0 to −50 degrees in the degree of external rotation when the hip was dislocated. The degree became insignificant when pelvic rotation was increased from 0 to 10 degrees. From −10 to −50 degree of pelvic rotation, 36mm head had significant better stability compared with 32mm and 28mm femoral heads. The presence of significant pelvic sagittal malrotation can increase the risk of anterior dislocation. A larger femoral head is more stable than smaller heads. When pelvic sagittal malrotation is not present, there is no difference in stability between large and small femoral heads.
Glacial refugia and migration routes of the Neotropical genus Trizeuxis (Orchidaceae)
Authors: Kolanowska Marta
Published: September 2013

The morphology and anatomy of the monotypic genus Trizeuxis make this taxon almost impossible to recognize in fossil material and hereby difficult object of historical geographic studies. To estimate the distribution of potential refugia during the last glacial maximum and migration routes for Trizeuxis the ecological niche modeling was performed. The potential niche modeling was done using maximum entropy method implemented in Maxent application based on the species presence-only observations. As input data climatic variables and the digital elevation model were used. Two models of suitable glacial habitats distribution were prepared – for the studied species and for its host. The compiled map of the suitable habitats distribution of T. falcata and P. guajava during the last glacial maximum (LGM) indicate two possible refugia for the studied orchid genus. The first one was located in the Madre de Dios region and the other one in the Mosquito Coast. The models suggest the existence of two migration routes of Trizeuxis species. The results indicate that the ecological niche modeling (ENM) is a useful tool for analyzing not only the possible past distribution of the species, but may be also applied to determine the migration routes of the organisms not found in the fossil material.
Group Transfer Polymerization
Authors: Rikkou‐Kalourkoti Maria , Webster Owen W. , Patrickios Costas S.
Published: September 2013

Group transfer polymerization (GTP) is a type of “quasi‐living” oxyanionic polymerization with enolate active species, best suited for methacrylates, but also well suited for acrylates, acrylamides, and methacrylamides. Silyl ketene acetals are suitable initiators, whereas nucleophiles (fluorides, bifluorides, oxyanions, bioxyanions, and, more recently,
N
‐heterocyclic carbenes and phosphines) most usually serve as GTP catalysts; electrophiles (Lewis acids) can also be used for catalyzing GTP (mainly for acrylates). With the advantages of operability at ambient temperature, fast polymerization reaction (monomer conversion usually completed within 5–10 min) and facile preparation of block copolymers, GTP was the method of choice for the preparation of a large number of functional polymeric materials in the 1990s, before the development and broad acceptance of controlled radical polymerization methods. GTP is currently used for the industrial synthesis of aqueous dispersing agents for pigmented ink for jet printers. These agents are based on ABC triblock terpolymer oligomers with one hydrophobic anchoring block, and two hydrophilic stabilizing blocks, a neutral one for steric stabilization and an ionizable one for electrostatic stabilization. Another area where GTP has recently been used extensively was the preparation of well‐defined functional polymer networks for subsequent basic (nonindustrial) physicochemical studies.
Expert Consensus on Best Practices for Post–Acute Rehabilitation After Total Hip and Knee Arthroplasty: A Canada and United States Delphi Study
Authors: Westby Marie D. , Brittain Asuko , Backman Catherine L.
Published: September 2013

Objective

To synthesize professional and patient expertise with available evidence to recommend best practices for post–acute rehabilitation following primary total hip arthroplasty (THA) and total knee arthroplasty (TKA) for osteoarthritis (OA).

Methods

Two expert panels of clinicians, researchers, and patients from Canada and the US participated in a 3‐round, online Delphi survey.

Results

Consensus was reached on 22 THA and 24 TKA best practice key statements. Recommendations common to both procedures included the need for supervised rehabilitation interventions provided by trained health professionals early after discharge from the acute care setting to optimize patient outcomes. Personal and environmental contextual factors were identified as influencing the process and outcomes of THA and TKA rehabilitation. Routine outcome assessment was recommended and several standardized outcome tools identified. Short‐term followup care in the first 2 years postsurgery was recommended for both procedures. Specifics on timing, rehabilitation providers, need for long‐term followup, and interventions differed for THA and TKA. Some recommendations received different levels of support based on the type of panelist (patient, physical therapist, surgeon), professional role (clinician, researcher), and/or country.

Conclusion

A rigorous consensus method led to key recommendations for post–acute rehabilitation after primary THA and TKA for OA, which together with available evidence and acknowledgment of contextual factors will inform the development of clinical practice guidelines. This is an important step toward reducing practice variation, closing the evidence–practice gap, and improving the quality of rehabilitation services after THA and TKA.
Patient–Rheumatologist Communication Concerning Prescription Medications: Getting to the Gist
Authors: Blalock Susan J. , Slota Catherine , DeVellis Brenda M. , DeVellis Robert F. , Chewning Betty , Jonas Beth L. , Sleath Betsy L.
Published: September 2013

Objective

Fuzzy trace theory was used to develop a coding scheme that captures the gist that patients extract from information about medication risks and benefits and to explore the extent to which different patients extract different gist representations from the same information.

Methods

Data were collected from 2003–2007 in a study that included audiotape recording office visits that rheumatoid arthritis (RA) patients had with their rheumatologists. Each patient (n = 365) had up to 3 visits audiotape recorded. The audiotapes were transcribed to facilitate content analysis. Four patients with RA who did not participate in the original study guided development of the coding scheme and used it to code the transcripts.

Results

The coding scheme contains 14 gist themes centering on medication effectiveness, need, and safety. There was considerable variation among the gist coders in the specific themes they extracted from individual transcripts. We observed the greatest intercoder agreement for the 4 gist theme variables related to whether the rheumatologist wanted to make changes to the medication regimen. Furthermore, the coders rarely used the “not clear” category to code these 4 variables. In contrast, intercoder agreement for the remaining gist themes, which were designed to capture issues central to the communication of information about medication risks and benefits, was low and the “not clear” category was used more frequently.

Conclusion

Our study findings suggest that different people exposed to the same information may form different gist representations. Patient–provider communication concerning medication risks and benefits might be enhanced by better understanding the factors that influence the gist extraction process.
The Role of Fullerene Mixing Behavior in the Performance of Organic Photovoltaics: PCBM in Low‐Bandgap Polymers
Authors: Chen Huipeng , Peet Jeff , Hu Sheng , Azoulay Jason , Bazan Guillermo , Dadmun Mark
Published: September 2013

This manuscript reports the mixing behavior, interdiffusion, and depth profile of 1‐[3‐(methoxycarbonyl)propyl]‐1‐phenyl‐[6,6]C61 (PCBM):low‐bandgap (LBG) polymer thin films that are formed by thermally annealing initial bilayers. The extent of mixing of PCBM is higher in polymers that include the 2,1,3‐benzothiadiazole (BT) unit than in polymers that incorporate the 2,1,3‐benzooxadiazole (BO) unit. This difference is ascribed to the enhanced mixing behavior of PCBM with the benzothiadiazole functionality than with benzooxadiazole functionality, which is attributed to preferred intermolecular interactions. The increased polymer/fullerene mixing is found to be crucial for optimal device performance. A decrease of polymer/fullerene mixing reduces the donor/acceptor interface, which lowers the probability of exciton dissociation and charge generation. Moreover, low PCBM mixing provides limited pathways for electron transport out of a miscible region, due to long distances between adjacent PCBM in such a miscible phase. This inhibits electron transport and increases the recombination of free charge carriers, resulting in a decrease in short circuit current and device performance. These results further exemplify the importance of the thermodynamic mixing behavior of the polymer:fullerene pair in designing next‐generation conjugated polymers for organic photovoltaic (OPV) applications, as this controls the final morphology of the OPV active layer.
Localized Surface Plasmon Resonance‐Enhanced Two‐Photon Excited Ultraviolet Emission of Au‐Decorated ZnO Nanorod Arrays
Authors: Lin Yi , Xu Chunxiang , Li Jitao , Zhu Gangyi , Xu Xiaoyong , Dai Jun , Wang Baoping
Published: September 2013

ZnO nanorod arrays and their Au‐decorated counterparts are fabricated. The two‐photon excited ultraviolet emissions of these two samples are studied by selecting different excitation wavelengths according to the localized surface plamsmon resonance (LSPR) position of Au nanoparticles (NPs). It is found that the two‐photon excitation threshold of Au‐decorated ZnO sample is much lower than that of the as‐grown sample under an excitation corresponding to the LSPR absorption of Au NPs, such as 520 nm. Under the same excitation power, the UV emission intensity is strongly enhanced after the Au NPs are assembled on the surfaces of ZnO nanorods. This improvement is attributed to a strong local field enhancement generated by the LSPR of Au NPs. Experiments demonstrate that the resonant process depends on the excitation wavelength near or far from the LSPR peak of Au NPs. These studies provide direct evidence for the mechanism of LSPR‐enhanced UV emission of ZnO, and are helpful to design proper metal–semiconductor nanostructures with high luminescence efficiency.
Ruthenium/1,1′‐Bis(diphenylphosphino)ferrocene‐Catalysed Oppenauer Oxidation of Alcohols and Lactonisation of α,ω‐Diols using Methyl Isobutyl Ketone as Oxidant
Authors: Nicklaus Céline M. , Phua Pim Huat , Buntara Teddy , Noel Sebastien , Heeres Hero J. , de Vries Johannes G.
Published: September 2013

A number of ruthenium catalysts, made in situ from [Ru(p‐cymene)Cl2]2 and various monodentate and bidentate phosphorus ligands were screened in the double Oppenauer oxidation of 1,6‐hexanediol to caprolactone using methyl isobutyl ketone as oxidant and potassium carbonate as base. The catalyst based on 1,1′‐bis(diphenylphosphinyl)ferrocene gave this lactone in excellent yield. The same catalyst was evaluated for the oxidation of other diols to their lactones, of primary alcohols to the corresponding aldehydes and of secondary alcohols to the ketones under the same reaction conditions. The products were obtained in moderate to excellent yields.

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First Tandem Asymmetric Conjugate Addition of Alkenyl Nucleophiles and Silyl Trapping of the Intermediate Enolates
Authors: Westmeier Johannes , Pfaff Christopher , Siewert Jürgen , von Zezschwitz Paultheo
Published: September 2013

The tandem asymmetric conjugate addition of alkyl or aryl groups to enones and subsequent silyl trapping has already been achieved and yields valuable silyl enol ethers. Herein, the first method for the respective addition of alkenyl groups is reported, which is based on a rhodium(I)‐catalyzed addition of readily available alkenylzirconocenes. As prerequisite for silyl trapping, the initially formed enolates have to be transmetalated from zirconium to lithium by treatment with methyllithium prior to addition of the silyl chloride. Starting from 5‐ to 7‐membered cycloalkenones, the respective silyl enol ethers were obtained in excellent yields and ≥93% ee; an acyclic substrate furnished a moderate enantioselectivity. Besides trimethylsilyl chloride, the silylation was also performed with tert‐butyldimethylsilyl chloride, and the synthetic scope was evaluated by employing five different alkenyl groups. Moreover, the mechanism of this sequence was elucidated by 1H NMR studies, and the efficiency of catalyst control was exemplified by synthesis of a cis‐3,5‐disubstituted cyclohexanone which, due to strong substrate control, cannot be obtained by copper‐catalyzed conjugate addition.

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Nonsyndromic brachydactyly type D and type E mapped to 7p15 in healthy children and adults from the jirel ethnic group in eastern nepal
Authors: Williams Kimberly D. , Blangero John , Subedi Janardan , Jha Bharat , Dyer Thomas , Vandeberg John L. , Towne Bradford , Williams‐Blangero Sarah
Published: September 2013

Objectives

There is phenotypic overlap between Brachydactyly Type D (BDD) and Brachydactyly Type E (BDE) that suggests a possible common underlying etiology. We seek to understand the genetic underpinnings of, and relationship between, these skeletal anomalies.

Methods

The Jirel ethnic group of eastern Nepal participates in various genetic epidemiologic studies, including those in which hand‐wrist radiographs have been taken to examine skeletal development. Nearly 2,130 individuals (969 males; 1,161 females) were phenotyped for BDD/BDE. Of these, 1,722 individuals (773 males; 949 females) were genotyped for 371 STR markers spanning the autosomal genome. Variance components‐based linkage analysis was used to conduct a genome‐wide linkage scan for QTL influencing the BDD/BDE phenotype.

Results

BDD was present in 3.55%, and BDE was present in 0.39%, of the study sample. Because of the phenotypic overlap between two traits, affecteds of either type were considered as affected by a single combined phenotype (BDD/BDE) having a prevalence of 3.94%. The additive genetic heritability of BDD/BDE was highly significant (h2 ± SE = 0.89 ± 0.13; P = 1.7 × 10−11). Significant linkage of BDD/BDE was found to markers on chromosome 7p21‐7p14 (peak LOD score = 3.74 at 7p15 between markers D7S493 and D7S516).

Conclusions

Possible positional candidate genes in the one‐lod support interval of this QTL include TWIST and the HOXA1‐A13 cluster. This is the first study to report significant linkage results for BDD/BDE using a large extended pedigree, and the first to suggest that mutations in TWIST and/or the HOXA1‐A13 cluster may contribute to these specific skeletal anomalies. Am. J. Hum. Biol. 25:743–750, 2013. © 2013 Wiley Periodicals, Inc.
Sex‐specific control of central nervous system autoimmunity by p38 mitogen‐activated protein kinase signaling in myeloid cells
Authors: Krementsov Dimitry N. , Noubade Rajkumar , Dragon Julie A. , Otsu Kinya , Rincon Mercedes , Teuscher Cory
Published: September 2013

Objective

Multiple sclerosis (MS) is a chronic inflammatory demyelinating disease of the central nervous system (CNS), characterized by a global increasing incidence driven by relapsing–remitting disease in females. Investigators have described p38 mitogen‐activated protein kinase (MAPK) as a key regulator of inflammatory responses in autoimmunity, but its role in the sexual dimorphism in MS or MS models remains unexplored.

Methods

Toward this end, we used experimental autoimmune encephalomyelitis (EAE), the principal animal model of MS, combined with pharmacologic and genetic inhibition of p38 MAPK activity and transcriptomic analyses.

Results

Pharmacologic inhibition of p38 MAPK selectively ameliorated EAE in female mice. Conditional deletion studies demonstrated that p38α signaling in macrophages/myeloid cells, but not T cells or dendritic cells, mediated this sexual dimorphism, which was dependent on the presence of adult sex hormones. Analysis of CNS inflammatory infiltrates showed that female but not male mice lacking p38α in myeloid cells exhibited reduced immune cell activation compared with controls, whereas peripheral T‐cell priming was unaffected in both sexes. Transcriptomic analyses of myeloid cells revealed differences in p38α‐controlled transcripts comprising female‐ and male‐specific gene modules, with greater p38α dependence of proinflammatory gene expression in females.

Interpretation

Our findings demonstrate a key role for p38α in myeloid cells in CNS autoimmunity and uncover important molecular mechanisms underlying sex differences in disease pathogenesis. Taken together, our results suggest that the p38 MAPK signaling pathway represents a novel target for much needed disease‐modifying therapies for MS. Ann Neurol 2014;75:50–66
Activation of the Ubiquitin Proteasome Pathway in a Mouse Model of Inflammatory Myopathy: A Potential Therapeutic Target
Authors: Rayavarapu Sree , Coley William , Van der Meulen Jack H. , Cakir Erdinc , Tappeta Kathyayini , Kinder Travis B. , Dillingham Blythe C. , Brown Kristy J. , Hathout Yetrib , Nagaraju Kanneboyina
Published: September 2013

Objective

Myositis is characterized by severe muscle weakness. We and others have previously shown that endoplasmic reticulum (ER) stress plays a role in the pathogenesis of myositis. The present study was undertaken to identify perturbed pathways and assess their contribution to muscle disease in a mouse myositis model.

Methods

Stable isotope labeling with amino acids in cell culture (SILAC) was used to identify alterations in the skeletal muscle proteome of myositic mice in vivo. Differentially altered protein levels identified in the initial comparisons were validated using a liquid chromatography tandem mass spectrometry spike‐in strategy and further confirmed by immunoblotting. In addition, we evaluated the effect of a proteasome inhibitor, bortezomib, on the disease phenotype, using well‐standardized functional, histologic, and biochemical assessments.

Results

With the SILAC technique we identified significant alterations in levels of proteins belonging to the ER stress response, ubiquitin proteasome pathway (UPP), oxidative phosphorylation, glycolysis, cytoskeleton, and muscle contractile apparatus categories. We validated the myositis‐related changes in the UPP and demonstrated a significant increase in the ubiquitination of muscle proteins as well as a specific increase in ubiquitin carboxyl‐terminal hydrolase isozyme L1 (UCHL‐1) in myositis, but not in muscle affected by other dystrophies or normal muscle. Inhibition of the UPP with bortezomib significantly improved muscle function and also significantly reduced tumor necrosis factor α expression in the skeletal muscle of mice with myositis.

Conclusion

Our findings indicate that ER stress activates downstream UPPs and contributes to muscle degeneration and that UCHL‐1 is a potential biomarker for disease progression. UPP inhibition offers a potential therapeutic strategy for myositis.
Estrogen Receptor α Regulates Tripartite Motif–Containing Protein 21 Expression, Contributing to Dysregulated Cytokine Production in Systemic Lupus Erythematosus
Authors: Smith Siobhán , Ní Gabhann Joan , McCarthy Eoghan , Coffey Barbara , Mahony Rebecca , Byrne Jennifer C. , Stacey Kevin , Ball Elizabeth , Bell Aubrey , Cunnane Gaye , Doran Michele F. , Molloy Eamonn S. , Lee Ruth Z. , Harvey Brian , Kearns Grainne , Jefferies Caroline A.
Published: September 2013

Objective

To examine the role of 17β‐estradiol in the regulation of the autoantigen tripartite motif–containing protein 21 (TRIM‐21) in patients with systemic lupus erythematosus (SLE).

Methods

Monocytes isolated from healthy control subjects and patients with SLE were stimulated with 17β‐estradiol and/or the estrogen receptor α (ERα) antagonist methyl‐piperidino‐pyrazole dihydrochloride. TRIM‐21, ERα, and CREMα expression was determined by real‐time polymerase chain reaction (PCR) analysis. MatInspector software was used to identify putative binding sites within the TRIM‐21 promoter. ERα binding to the TRIM‐21 gene promoter region in monocytes was analyzed by chromatin immunoprecipitation (ChIP) assay. TRIM‐21 and interferon regulatory factor 3 protein levels were analyzed by Western blotting.

Results

Real‐time PCR analysis demonstrated a role of estrogen in the regulation of TRIM‐21 expression in monocytes, which correlated positively with ERα gene expression in patients with SLE. Investigations into the human TRIM‐21 promoter revealed the presence of an estrogen response element, with ChIP assays confirming ERα binding to this site. Studies into estrogen‐induced TRIM‐21 expression revealed a hyperresponsiveness of SLE patients to 17β‐estradiol, which led to the enhanced levels of TRIM‐21 observed in these individuals.

Conclusion

Our results demonstrate a role of estrogen in the regulation of TRIM‐21 expression through an ERα‐dependent mechanism, a pathway that we observed to be overactive in SLE patients. Treatment of monocytes with an ERα antagonist abrogated estrogen‐induced TRIM‐21 expression and, as a consequence, decreased the expression of interleukin‐23. These findings identify TRIM‐21 as a novel ERα‐regulated gene and provide novel insights into the link between estrogen and the molecular pathogenesis of SLE.
Statistical common author networks
Authors: Serpa Francisco G. , Graves Adam M. , Javier Artjay
Published: September 2013

A new method for visualizing the relatedness of scientific areas has been developed that is based on measuring the overlap of researchers between areas. It is found that closely related areas have a high propensity to share a larger number of common authors. A method for comparing areas of vastly different sizes and to handle name homonymy is constructed, allowing for the robust deployment of this method on real data sets. A statistical analysis of the probability distributions of the common author overlap that accounts for noise is carried out along with the production of network maps with weighted links proportional to the overlap strength. This is demonstrated on 2 case studies, complexity science and neutrino physics, where the level of relatedness of areas within each area is expected to vary greatly. It is found that the results returned by this method closely match the intuitive expectation that the broad, multidisciplinary area of complexity science possesses areas that are weakly related to each other, whereas the much narrower area of neutrino physics shows very strongly related areas.
Reactivity of Fluoro‐Substituted Bis(thiocarbonyl) Donors with Diiodine: An XRD, FT–Raman, and DFT Investigation
Authors: Mancini Annalisa , Aragoni M. Carla , Bingham Ann L. , Castellano Carlo , Coles (née Huth) Susanne L. , Demartin Francesco , Hursthouse Michael B. , Isaia Francesco , Lippolis Vito , Maninchedda Giuseppe , Pintus Anna , Arca Massimiliano
Published: September 2013

The reactions of 1,3,8,10‐tetrakis(4′‐fluorophenyl)‐4,5,6,7‐tetrathiocino[1,2‐b:3,4‐b′]diimidazolyl‐2,9‐dithione (4) and molecular diiodine afforded spoke adducts with stoichiometries 4·I2 and 4⋅3I2, isolated in the compound 4⋅3I2⋅xCH2Cl2⋅(1−x)I2 (x=0.70), and characterized by single‐crystal XRD and FT–Raman spectroscopy. The nature of the reaction products was investigated under the prism of theoretical calculations carried out at the DFT level. The structural data, FT–Raman spectroscopy, and quantum mechanical calculations agree in indicating that the introduction of fluorophenyl substituents results in a lowering of the Lewis basicity of this class of bis(thiocarbonyl) donors compared with alkyl‐substituted tetrathiocino donors and fluorine allows for extended interactions that are responsible for solid‐state crystal packing.
Parametric Solutions to the Generalized Discrete Yakubovich‐Transpose Matrix Equation
Authors: Song Caiqin , Feng Jun‐e , Wang Xiaodong , Zhao Jianli
Published: September 2013

This paper is concerned with the complete parametric solutions to the generalized discrete Yakubovich‐transpose matrix equation X − AXTB = CY. which is related with several types of matrix equations in control theory. One of the parametric solutions has a neat and elegant form in terms of the Krylov matrix, a block Hankel matrix and an observability matrix. In addition, the special case of the generalized discrete Yakubovich‐transpose matrix equation, which is called the Karm‐Yakubovich‐transpose matrix equation, is considered. The explicit solutions to the Karm‐Yakubovich‐transpose matrix equation are also presented by the so‐called generalized Leverrier algorithm. At the end of the paper, two examples are given to show the efficiency of the proposed algorithm.
Perspectives in process analysis
Authors: Kessler Rudolf W.
Published: September 2013

Process analysis is a transdisciplinary technology. Process chemists, process engineers, chemometricians, and many other technologists must work together and put more emphasis on the essentials of science of each discipline. This perspective analyzes potential strategies for intelligent production in the future. It emphasizes the need for a holistic approach where multimodality will be a bedrock supporting the production of smart materials in smart factories. Copyright © 2013 John Wiley & Sons, Ltd.
Circularly Polarized Luminescence in Supramolecular Assemblies of Chiral Bichromophoric Perylene Bisimides
Authors: Kumar Jatish , Nakashima Takuya , Tsumatori Hiroyuki , Mori Midori , Naito Masanobu , Kawai Tsuyoshi
Published: September 2013

Chiral bichromophoric perylene bisimides are demonstrated as active materials of circularly polarized emission. The bichromophoric system exhibited circularly polarized luminescence with dissymmetry factors typical of that of similar organic chiral chromophoric systems in the monomeric state. Variation in solvent composition led to the formation of stably soluble helical aggregates through intermolecular interactions. A large enhancement in the dissymmetry of circularly polarized luminescence was exhibited by the aggregated structures both in the solution and solid states. The sum of excitonic couplings between the individual chromophoric units in the self‐assembled state results in relatively large dissymmetry in the circularly polarized luminescence, thereby giving rise to enhanced dissymmetry factors for the aggregated structures. The spacer between chiral center and chromophoric units played a crucial role in the effective enhancement of chiroptical properties in the self‐assembled structures. These materials might provide opportunities for the design of a new class of functional bichromophoric organic nanoarchitectures that can find potential applications in the field of chiroptical memory and light‐emitting devices based on supramolecular electronics.
Ammonia‐Annealed TiO2 as a Negative Electrode Material in Li‐Ion Batteries: N Doping or Oxygen Deficiency?
Authors: Ventosa Edgar , Xia Wei , Klink Stefan , Mantia Fabio La , Mei Bastian , Muhler Martin , Schuhmann Wolfgang
Published: September 2013

Improving the chemical diffusion of Li ions in anatase TiO2 is essential to enhance its rate capability as a negative electrode for Li‐ion batteries. Ammonia annealing has been used to improve the rate capability of Li4Ti5O12. Similarly, ammonia annealing improves the Li‐ion storage performance of anatase TiO2 in terms of the stability upon cycling and the C‐rate capability. In order to distinguish whether N doping or oxygen deficiencies, both introduced upon ammonia annealing, are more relevant for the observed improvement, a systematic electrochemical study was performed. The results suggest that the creation of oxygen vacancies upon ammonia annealing is the main reason for the improvement of the stability and C‐rate capability.
Quality changes during spouted bed drying of Pepper‐Rosmarin extract
Authors: Benelli Lucimara , Souza Claudia R. F. , Oliveira Wanderley P.
Published: September 2013

This study was undertaken in order to evaluate the effects of processing and feed composition variables on the retention of volatile compounds and product properties during spouted bed drying of pepper‐rosmarin extract (Lippia sidoides Cham.). The product loss on drying, LD, moisture content, Xp, water activity, Aw, concentration of bioactive markers (flavonoid, TF, polyphenol, TPF and thymol contents, TT), antioxidant activity, IC50, powder flow properties, powder morphology and crystalline state were the responses analysed. Processing conditions and feed composition significantly affected the product quality, leading to noticeable changes in the retention of bioactive substances. Results of this study show that the concentration of bioactive markers in the dried product tended to increase with the feed flow rate of the feed composition relative to the maximum dryer evaporation capacity, Ws/Wmax, and conversely with the concentration of drying carriers added to the feed composition. The dried extract showed significant antioxidant activity, although significant losses of bioactive marker compounds (TF, TPF and TT) were observed in some processing conditions.
Developing a novel fibre high speed photography method for investigating solid volume fraction in a 3D spouted bed
Authors: Qian Long , Lu Yong , Zhong Wenqi , Chen Xi , Ren Bing , Jin Baosheng
Published: September 2013

A novel fibre high speed photography method has been developed for solid volume fraction measurement. This system mainly includes a small fibre‐optic endoscope, a halogen light source, a high speed video recorder and a powerful computer with large memory. The endoscope which could be inserted into the reactors is used to form motion images of particles within the measurement space illuminated by the halogen lamp. The motion images of particles are recorded by the high speed video camera and will be processed by a series of digital image processing algorithms such as calibration, denoising, enhancement and binarisation. The solid volume fraction can be figured out by counting the particle number on each frame in the video. The feasibility and reliability of the measurement system have been tested in a pilot 3D spouted bed which is 200 mm in diameter and 1500 mm in height. The radial profile of the solid volume fraction in the spouted bed is determined using the analysis method mentioned above. The results indicate that the fibre high speed photography method is a promising tool for gas–solid flow research.
Native and rearranged ALK copy number and rearranged cell count in non–small cell lung cancer
Authors: Camidge D. Ross , Skokan Margaret , Kiatsimkul Porntip , Helfrich Barbara , Lu Xian , Barón Anna E. , Schulte Nathan , Maxson DeLee , Aisner Dara L. , Franklin Wilbur A. , Doebele Robert C. , Varella‐Garcia Marileila
Published: September 2013

BACKGROUND

Patients with anaplastic lymphoma kinase (ALK)‐positive non–small cell lung cancer (NSCLC) respond to ALK inhibitors. Clinically, the presence of ≥15% cells with rearrangements identified on break‐apart fluorescence in situ hybridization (FISH) classifies tumors as positive. Increases in native and rearranged ALK copy number also occur.

METHODS

In total, 1426 NSCLC clinical specimens (174 ALK‐positive specimens and 1252 ALK‐negative specimens) and 24 ALK‐negative NSCLC cell lines were investigated. ALK copy number and genomic status were assessed by FISH.

RESULTS

Clinical specimens with 0% to 9%, 10% to 15%, 16% to 30%, 31% to 50%, and >50% ALK‐positive cells were identified in 79.3%, 8.5%, 1.4%, 2.7%, and 8.1%, respectively. An increased native ALK copy number (≥3 copies per cell in ≥40% of cells) was detected in 19% of ALK‐positive tumors and in 62% of ALK‐negative tumors. In ALK‐negative tumors, abundant, focal amplification of native ALK was rare (0.8%). Other atypical patterns occurred in approximately 6% of tumors. The mean native ALK copy number ranged from 2.1 to 6.9 copies in cell lines and was not correlated with crizotinib sensitivity (50% inhibitory concentration, 0.34‐2.8 μM; r = 0.279; P = .1764). Neither native or rearranged ALK copy number nor the percentage of positive cells correlated with extra‐central nervous system progression‐free survival in ALK‐positive patients who were receiving crizotinib.

CONCLUSIONS

Overall, 8.5% of tumors fell below the established positivity threshold by ≤5%. Further investigation of ALK by other diagnostic techniques in such cases may be warranted. Native ALK copy number increases alone were not associated with sensitivity to ALK inhibition in vitro. However, rare, complex patterns of increased native ALK in patients should be studied further; because, otherwise, atypical rearrangements contained within these may be missed. Cancer 2013;119:3968–3975. © 2013 American Cancer Society.