bluuebunny/crossref_metadata_2025_split huggingface dataset:
Delineation and Diagnostic Criteria of Oral-Facial-Digital Syndrome Type VI
Authors: Poretti Andrea , Vitiello Giuseppina , Hennekam Raoul CM , Arrigoni Filippo , Bertini Enrico , Borgatti Renato , Brancati Francesco , D'Arrigo Stefano , Faravelli Francesca , Giordano Lucio , Huisman Thierry AGM , Iannicelli Miriam , Kluger Gerhard , Kyllerman Marten , Landgren Magnus , Lees Melissa M , Pinelli Lorenzo , Romaniello Romina , Scheer Ianina , Schwarz Christoph E , Spiegel Ronen , Tibussek Daniel , Valente Enza Maria , Boltshauser Eugen 
Published: January 2012

AbstractOral-Facial-Digital Syndrome type VI (OFD VI) represents a rare phenotypic subtype of Joubert syndrome and related disorders (JSRD). In the original report polydactyly, oral findings, intellectual disability, and absence of the cerebellar vermis at post-mortem characterized the syndrome. Subsequently, the molar tooth sign (MTS) has been found in patients with OFD VI, prompting the inclusion of OFD VI in JSRD. We studied the clinical, neurodevelopmental, neuroimaging, and genetic findings in a cohort of 16 patients with OFD VI. We derived the following inclusion criteria from the literature: 1) MTS and one oral finding and polydactyly, or 2) MTS and more than one typical oral finding. The OFD VI neuroimaging pattern was found to be more severe than in other JSRD subgroups and includes severe hypoplasia of the cerebellar vermis, hypoplastic and dysplastic cerebellar hemispheres, marked enlargement of the posterior fossa, increased retrocerebellar collection of cerebrospinal fluid, abnormal brainstem, and frequently supratentorial abnormalities that occasionally include characteristic hypothalamic hamartomas. Additionally, two new JSRD neuroimaging findings (ascending superior cerebellar peduncles and fused thalami) have been identified. Tongue hamartomas, additional frenula, upper lip notch, and mesoaxial polydactyly are specific findings in OFD VI, while cleft lip/palate and other types of polydactyly of hands and feet are not specific. Involvement of other organs may include ocular findings, particularly colobomas. The majority of the patients have absent motor development and profound cognitive impairment. In OFD VI, normal cognitive functions are possible, but exceptional. Sequencing of known JSRD genes in most patients failed to detect pathogenetic mutations, therefore the genetic basis of OFD VI remains unknown. Compared with other JSRD subgroups, the neurological findings and impairment of motor development and cognitive functions in OFD VI are significantly worse, suggesting a correlation with the more severe neuroimaging findings. Based on the literature and this study we suggest as diagnostic criteria for OFD VI: MTS and one or more of the following: 1) tongue hamartoma(s) and/or additional frenula and/or upper lip notch; 2) mesoaxial polydactyly of one or more hands or feet; 3) hypothalamic hamartoma.
Glycerol conversion to 1, 3-Propanediol is enhanced by the expression of a heterologous alcohol dehydrogenase gene in Lactobacillus reuteri
Authors: Vaidyanathan Hema , Kandasamy Vijayalakshmi , Gopal Ramakrishnan Gopi , Ramachandran KB , Jayaraman Guhan , Ramalingam Subramanian 
Published: January 2012

Abstract
In this work, Lactobacillus reuteri has been metabolically engineered for improving 1, 3-propanediol (1, 3-PD) production by the expression of an Escherichia coli alcohol dehydrogenase, yqhD, that is known to efficiently convert the precursor 3-hydroxypropionaldehyde (3-HPA) to 1, 3-PD. The engineered strain exhibited significantly altered formation rates for the product and other metabolites during the fermentation. An increase in the 1, 3-PD specific productivity of 34% and molar yield by 13% was achieved in the clone, relative to the native strain. A concomitant decrease in the levels of toxic intermediate, 3-HPA, was observed, with the specific productivity levels being 25% lesser than that of the native strain. Interestingly, the recombinant strain exhibited elevated rates of lactate and ethanol formation as well as reduced rate of acetate production, compared to the native strain. The preferential utilization of NADPH by YqhD with a possible decrease in the native 1, 3-PD oxidoreductase (NADH-dependent) activity, could have resulted in the diversion of surplus NADH towards increased lactate and ethanol productivities.
Gene Genealogies Within a Fixed Pedigree, and the Robustness of Kingman’s Coalescent
Authors: Wakeley John , King Léandra , Low Bobbi S , Ramachandran Sohini 
Published: January 2012

Abstract
We address a conceptual flaw in the backward-time approach to population genetics called coalescent theory as it is applied to diploid biparental organisms. Specifically, the way random models of reproduction are used in coalescent theory is not justified. Instead, the population pedigree for diploid organisms—that is, the set of all family relationships among members of the population—although unknown, should be treated as a fixed parameter, not as a random quantity. Gene genealogical models should describe the outcome of the percolation of genetic lineages through the population pedigree according to Mendelian inheritance. Using simulated pedigrees, some of which are based on family data from 19th century Sweden, we show that in many cases the (conceptually wrong) standard coalescent model is difficult to reject statistically and in this sense may provide a surprisingly accurate description of gene genealogies on a fixed pedigree. We study the differences between the fixed-pedigree coalescent and the standard coalescent by analysis and simulations. Differences are apparent in recent past, within ∼ &lt;log2(N) generations, but then disappear as genetic lineages are traced into the more distant past.
An ORFan No More: The Bacteriophage T4 39.2 Gene Product, NwgI, Modulates GroEL Chaperone Function
Authors: Ang Debbie , Georgopoulos Costa 
Published: January 2012

Abstract
Bacteriophages are the most abundant biological entities in our biosphere, characterized by their hyperplasticity, mosaic composition, and the many unknown functions (ORFans) encoded by their immense genetic repertoire. These genes are potentially maintained by the bacteriophage to allow efficient propagation on hosts encountered in nature. To test this hypothesis, we devised a selection to identify bacteriophage-encoded gene(s) that modulate the host Escherichia coli GroEL/GroES chaperone machine, which is essential for the folding of certain host and bacteriophage proteins. As a result, we identified the bacteriophage RB69 gene 39.2, of previously unknown function and showed that homologs of 39.2 in bacteriophages T4, RB43, and RB49 similarly modulate GroEL/GroES.
Production of wild-type bacteriophage T4 Gp39.2, a 58-amino-acid protein, (a) enables diverse bacteriophages to plaque on the otherwise nonpermissive groES or groEL mutant hosts in an allele-specific manner, (b) suppresses the temperature-sensitive phenotype of both groES and groEL mutants, (c) suppresses the defective UV-induced PolV function (UmuCD) of the groEL44 mutant, and (d) is lethal to the host when overproduced. Finally, as proof of principle that Gp39.2 is essential for bacteriophage growth on certain bacterial hosts, we constructed a T4 39.2 deletion strain and showed that, unlike the isogenic wild-type parent, it is incapable of propagating on certain groEL mutant hosts. We propose a model of how Gp39.2 modulates GroES/GroEL function.
Micro-organic Light-emitting Devices Fabricated by Room-temperature Curing Nanoimprint Lithography Using Diamond Molds
Authors: Ishikawa Ippei , Okuno Taisuke , Kiyohara Shuji , Taguchi Yoshio , Sugiyama Yoshinari , Omata Yukiko , Kurashima Yuichi 
Published: January 2012

ABSTRACTOrganic light-emitting devices (OLEDs) have attracted a lot of attention as a next generation display. In this study, we fabricated the micro-OLEDs by room-temperature curing nanoimprint lithography (RTC-NIL) using diamond molds. The diamond has superior durability and was used as mold material for RTC-NIL. The diamond molds have been fabricated by electron cyclotron resonance (ECR) oxygen ion shower with polysiloxane oxide mask in the electron beam (EB) lithography technology. We fabricated the diamond mold pattern with 10 μm-square dot. The diamond molds have been used to form an insulating layer in micro-OLEDs. The optimum thickness of N,N’-Diphenyl-N,N’-di(m-tolyl)benzidine (TPD) [hole transport layer],Tris(8-quinolinolato)aluminum (Alq3) [electron transport layer] and aluminum (Al) [cathode] were 40 nm, 40 nm and 200 nm, respectively. We succeeded in formation of insulating layer in micro-OLEDs and operation of micro-OLEDs with 10 μm-square-dot by RTC-NIL using diamond molds.
Enhanced Wettability of Nanocrystalline Diamond Films for Biocoating Applications
Authors: Yang Jason H. C. , Teii Kungen 
Published: January 2012

ABSTRACTNanocrystalline diamond (NCD) films are prepared from Ar-rich/N2/CH4 and Ar-rich/H2/CH4 mixtures by microwave plasma-enhanced chemical vapor deposition, and further treated by microwave hydrogen and oxygen plasma exposures separately to enhance the wetting property. The hydrogen plasma treatment has small effect on the surface roughness, while the oxygen plasma treatment forms fine protrusions on the film surface. Results show that the wettability of the hydrogen plasma treated NCD film is nearly constant or little improvement as the polar component of the apparent surface free energy is close to the as-deposit NCD film. In contrast, the wettability of the oxygen plasma treated NCD film is improved dramatically such that the contact angle is reduced from 92º and 4.7º to almost 0º for water and 1-bromonaphthalene, respectively, and the polar component increases significantly to 34 mJ/m2. The low contact angle suggests that the film is considerably a cell adhesive friendly surface, which is essential in maintaining multicellular structure, and thus making it a favorable wetting surface for biological and biomedical applications.
Photomodulated Rayleigh Scattering from Single Semiconductor Nanowires
Authors: Montazeri Mohammad , Wade Aaron , Fickenscher Melodie , Jackson Howard E. , Smith Leigh M. , Yarrison-Rice Jan M. , Gao Qiang , Tan H. Hoe , Jagadish Chennupati 
Published: January 2012

ABSTRACTWe demonstrate the newly developed technique Photomodulated Rayleigh Scattering spectroscopy in order to probe the electronic band structure of single semiconductor nanowires. We show that both the electronic transition energies and nanowire diameter can be measured simultaneously and with high accuracy in a single non-destructive measurement. We demonstrate our results for zincblende GaAs as well as wurtzite InP nanowires where we probed the band gaps and transition energies at both room and low temperatures. This technique should advance the study of optical properties of single nanowires as well as other types of nanostructures.
Photoconductivity of ZnO Nanowires Decorated with CdSe Quantum Dots
Authors: Hou Dongchao , Dev Apurba , Frank Kristian , Rosenauer Andreas , Voss Tobias 
Published: January 2012

ABSTRACTA hybrid assembly was built using ZnO nanowire (NW) arrays and colloidal CdSe quantum dots (QDs) stabilized by 3-mercaptopropionic acid (MPA). The QDs were chemically linked to the nanowires through the bonds formed between the outgoing carboxyl groups of the QD stabilizers and the zinc ions on the nanowire surface. An efficient clustering attachment of the QDs was achieved via partial removal of the stabilizers of the QDs. The photoconductivity of the NW/QD assembly was investigated by selective excitation of the CdSe QDs. Oxygen desorption from the nanowire surface enhances the photoconductivity and a model involving electron transfer between the QDs and the nanowires is proposed to explain the experimental results.
Thermoelectric Properties of p and n-type Nanocrystalline Silicon Nanowires with High Doping Levels
Authors: Suriano F. , Ferri M. , Solmi S. , Belsito L. , Roncaglia A. , Romano E. , Narducci D. , Cerofolini G. 
Published: January 2012

ABSTRACTAn experimental investigation about the thermoelectric properties of heavily doped p ad n-type nanocrystalline silicon nanowires (NWs) is described. The NWs are produced with low cost CMOS compatible processes, highly customizable in terms of cross-section and placement, which enables the fabrication of both stacked NWs in nearly vertical arrays within nanostructured templates built with SiO2/Si3N4 thin films and individual, freestanding NWs suited for thermal conductivity measurements. The cross-section dimensions of the investigated NWs range between 30 and 120 nm in size and up to about 2 cm in length. The structure of the NWs, as shown by SEM/TEM observations, is nanocrystalline with average size of the nanocrystals in one dimension that is comparable with the nanowire diameter. On the NWs, Seebeck coefficient, electrical resistivity and thermal conductivity have been measured, yielding thermoelectric figure of merit (ZT) values of 0.2 at 300 K for the best case.
Oral Health–Related Quality of Life in Children with Orofacial Clefts
Authors: Ward Jared A. , Vig Katherine W.L. , Firestone Allen R. , Mercado Ana , Da Fonseca Marcio , Johnston William 
Published: January 2012

Objectives To determine the impact of orofacial clefts on the oral health–related quality of life of affected children and whether the oral health–related quality of life of children with orofacial clefts differs among different age groups. To assess whether the responses of children with orofacial clefts differ from the caregivers’ perceptions of their child's oral health–related quality of life and compare with data from a control group. Design Cross-sectional study. Patients/Setting A total of 75 subjects with cleft lip and/or cleft palate (mean age, 13.0 years) from the Nationwide Children's Hospital Craniofacial Anomalies Clinic, as well as their caregivers, and 75 control subjects (mean age, 13.9 years). Main Outcome Measure Self-reported oral health–related quality of life measured with the Child Oral Health Impact Profile, a reliable and valid questionnaire designed for use with children and teenagers. Results Children with orofacial clefts had statistically significant lower quality of life scores than control subjects had for overall oral health–related quality of life, Functional Well-being, and Social Emotional Well-being. There was a statistically significant difference in the interaction of age group and Social-Emotional Well-being between children with orofacial clefts and control children. No statistically significant differences were found between the responses of children with orofacial clefts and their caregivers’ reports. Conclusions Presence of an orofacial cleft significantly decreases overall oral health–related quality of life, Functional Well-being, and Social-Emotional Well-being in children and adolescents. The negative impact of orofacial clefts on Social-Emotional Well-being is greater in 15- to 18-year-olds than in younger age groups. Children with orofacial clefts and their caregivers had very similar evaluations of the child's oral health–related quality of life.
Local Strategies to Address Health Needs of Individuals with Orofacial Clefts in Alagoas, Brazil
Authors: Fontes Marshall Ítalo Barros , Almeida Lanusia Nunes , De Oliveira Reis Junior Gilberto , Filho José Ivam Vieira , Santos Kathleen Moura Dos , Anjos Filipe Silveira Dos , De Andrade Ana Karolina Maia , Porciuncula Carlos Guilherme Gaelzer , De Oliveira Michelline Costa , Pereira Rui Manoel , Vieira Tarsis Antonio Paiva , Viguetti-Campos Nilma Lúcia , Gil-Da-Silva-Lopes Vera Lúcia , Monlleó Isabella Lopes 
Published: January 2012

Objective To describe demographic and clinical-genetic characteristics of patients from a poor area of Brazil and to share experience on how the local genetic unit has addressed their major health needs. Design Descriptive cohort. Setting A clinical-genetic unit, a cytogenetics unit, and a regional cleft team located in the northeast and southeast of Brazil. Participants A total of 133 individuals with orofacial clefts who attended the surgical call of a nongovernmental organization. From this group, 125, 77, and 13 patients completed phases 1, 2, and 3, respectively. Methods Phase 1 comprised a description of demographic characteristics recorded through interviews. Phase 2 included a clinical-genetic evaluation using a pretested form, as well as cytogenetic analyses of selected patients. Phase 3 comprised collaborative action to address major health needs of patients without primary surgery. The Fisher test was used for statistics with p value < .05. Results A majority of patients were rural residents with isolated cleft lip with cleft palate. Ages ranged between 0 and 30 years. Fifty percent had never undergone surgery; whereas, 100% had never attended a genetic evaluation. Isolated cleft was diagnosed in 77.9%, syndromes in 14.3%, and multiple congenital abnormalities in 7.8%. Positive familial history of clefts occurred in 28%; whereas, parental consanguinity was present in 7.8% cases. A total of 23 individuals without cleft surgery were registered for multidisciplinary treatment. Conclusions Findings revealed high levels of unmet medical needs and provided an evidence base for health care planning. Collaborative action was crucial and might be applied to other regions in Brazil.
First-Line XELOX Plus Bevacizumab Followed by XELOX Plus Bevacizumab or Single-Agent Bevacizumab as Maintenance Therapy in Patients with Metastatic Colorectal Cancer: The Phase III MACRO TTD Study
Authors: Díaz-Rubio Eduardo , Gómez-España Auxiliadora , Massutí Bartomeu , Sastre Javier , Abad Albert , Valladares Manuel , Rivera Fernando , Safont Maria J. , Martínez de Prado Purificación , Gallén Manuel , González Encarnación , Marcuello Eugenio , Benavides Manuel , Fernández-Martos Carlos , Losa Ferrán , Escudero Pilar , Arrivi Antonio , Cervantes Andrés , Dueñas Rosario , López-Ladrón Amelia , Lacasta Adelaida , Llanos Marta , Tabernero Jose M. , Antón Antonio , Aranda Enrique ,   Spanish Cooperative Group for the Treatment of Digestive Tumors (TTD)
Published: January 2012

Abstract

Purpose.
The aim of this phase III trial was to compare the efficacy and safety of bevacizumab alone with those of bevacizumab and capecitabine plus oxaliplatin (XELOX) as maintenance treatment following induction chemotherapy with XELOX plus bevacizumab in the first-line treatment of patients with metastatic colorectal cancer (mCRC).

Patients and Methods.
Patients were randomly assigned to receive six cycles of bevacizumab, capecitabine, and oxaliplatin every 3 weeks followed by XELOX plus bevacizumab or bevacizumab alone until progression. The primary endpoint was the progression-free survival (PFS) interval; secondary endpoints were the overall survival (OS) time, objective response rate (RR), time to response, duration of response, and safety.

Results.
The intent-to-treat population comprised 480 patients (XELOX plus bevacizumab, n = 239; bevacizumab, n = 241); there were no significant differences in baseline characteristics. The median follow-up was 29.0 months (range, 0–53.2 months). There were no statistically significant differences in the median PFS or OS times or in the RR between the two arms. The most common grade 3 or 4 toxicities in the XELOX plus bevacizumab versus bevacizumab arms were diarrhea, hand–foot syndrome, and neuropathy.

Conclusion.
Although the noninferiority of bevacizumab versus XELOX plus bevacizumab cannot be confirmed, we can reliably exclude a median PFS detriment &gt;3 weeks. This study suggests that maintenance therapy with single-agent bevacizumab may be an appropriate option following induction XELOX plus bevacizumab in mCRC patients.
Results of the GYNECO 02 Study, an FNCLCC Phase III Trial Comparing Hysterectomy with No Hysterectomy in Patients with a (Clinical and Radiological) Complete Response After Chemoradiation Therapy for Stage IB2 or II Cervical Cancer
Authors: Morice Philippe , Rouanet Philippe , Rey Annie , Romestaing Pascale , Houvenaeghel Gilles , Boulanger Jean Charles , Leveque Jean , Cowen Didier , Mathevet Patrice , Malhaire Jean Pierre , Magnin Guillaume , Fondrinier Eric , Berille Jocelyne , Haie-Meder Christine 
Published: January 2012

Abstract

Learning Objectives
After completing this course, the reader will be able to: Evaluate the therapeutic impact of hysterectomy after chemoradiation therapy in locally advanced cervical cancer.Evaluate the rate of histologic residual disease in patients with complete clinical and radiologic response after chemoradiation therapy.
This article is available for continuing medical education credit at CME.TheOncologist.com

Background.
Concomitant chemoradiation (CRT) (including brachytherapy) is considered the standard management for stage IB2 or II cervical cancer in many countries. Nevertheless, some of them discuss completion surgery (hysterectomy [HT]) after CRT. The aim of this study was to investigate the therapeutic impact of such surgery.

Methods.
A randomized trial was opened in France in 2003 to evaluate the interest in HT after CRT. Inclusion criteria were: (a) stage IB2 or II cervical cancer without extrapelvic disease on conventional imaging; (b) pelvic external radiation therapy (45 Gy with or without parametrial or nodal boost) with concomitant cisplatin chemotherapy (40 mg/m2 per week) followed by uterovaginal brachytherapy (15 Gy to the intermediate risk clinical target volume); and (c) complete clinical and radiological response 6–8 weeks after brachytherapy. Patients were randomized between HT (arm A) and no HT (arm B). Unfortunately this trial was closed because of poor accrual: 61 patients were enrolled (in 2003–2006) and are reported on here.

Results.
Thirty one and 30 patients were enrolled, respectively, in arm A and arm B. Twelve patients recurred (five of them died): respectively, eight and four in arm A and arm B. The 3-year event-free survival rates were 72% (standard error [SE], 9%) and 89% (SE, 6%) (not significant [NS]) in arm A and arm B, respectively. The 3-year overall survival rates were 86% (SE, 6%) and 97% (SE, 3%) (NS) in arm A and arm B, respectively.

Conclusions.
Results of the current trial seem to suggest that completion HT had no therapeutic impact in patients with clinical and radiological complete response after CRT (but this conclusion is limited by the lack of power).
Vitamin D and Breast Cancer
Authors: Shao Theresa , Klein Paula , Grossbard Michael L. 
Published: January 2012

Abstract
In addition to its role in calcium homeostasis and bone health, vitamin D has also been reported to have anticancer activities against many cancer types, including breast cancer. The discovery that breast epithelial cells possess the same enzymatic system as the kidney, allowing local manufacture of active vitamin D from circulating precursors, makes the effect of vitamin D in breast cancer biologically plausible. Preclinical and ecologic studies have suggested a role for vitamin D in breast cancer prevention. Inverse associations have also been shown between serum 25-hydroxyvitamin D level (25(OH)D) and breast cancer development, risk for breast cancer recurrence, and mortality in women with early-stage breast cancer. Clinical trials of vitamin D supplementation, however, have yielded inconsistent results. Regardless of whether or not vitamin D helps prevent breast cancer or its recurrence, vitamin D deficiency in the U.S. population is very common, and the adverse impact on bone health, a particular concern for breast cancer survivors, makes it important to understand vitamin D physiology and to recognize and treat vitamin D deficiency. In this review, we discuss vitamin D metabolism and its mechanism of action. We summarize the current evidence of the relationship between vitamin D and breast cancer, highlight ongoing research in this area, and discuss optimal dosing of vitamin D for breast cancer prevention.