bluuebunny/crossref_metadata_2025_split huggingface dataset:
Autoantibody responses in autoimmune ovarian insufficiency and in Addison's disease are IgG1 dominated and suggest a predominant, but not exclusive, Th1 type of response
Authors: Brozzetti Annalisa , Marzotti Stefania , La Torre Daria , Bacosi Maria Luisa , Morelli Silvia , Bini Vittorio , Ambrosi Bruno , Giordano Roberta , Perniola Roberto , De Bellis Annamaria , Betterle Corrado , Falorni Alberto 
Published: May 2010

ObjectiveSteroid-producing cell autoantibodies (SCAs) directed against 21-hydroxylase autoantibodies (21OHAbs), 17α-hydroxylase autoantibodies (17OHAb), and cholesterol side-chain cleavage enzyme (side-chain cleavage autoantibodies, P450sccAb) characterize autoimmune primary ovarian insufficiency (SCA-POI). The aim of the study was to analyze IgG subclass specificity of autoantibodies related to adrenal and ovarian autoimmunity.DesignWe studied 29 women with SCA-POI, 30 women with autoimmune Addison's disease (AAD) without POI, and 14 patients with autoimmune polyendocrine syndrome type 1 (APS1). 21OHAb isotypes were also analyzed in 14 subjects with preclinical AAD. Samples from 30 healthy women served as control group to determine the upper level of normality in the isotype assays.MethodsImmunoradiometric assays with IgG subclass-specific secondary antibodies.ResultsIn 21OHAb-positive sera, IgG1 isotype was detected in 90% SCA-POI and non-POI AAD sera and 67% APS1 patients. IgG1 isotype was found in 69% 17OHAb-positive SCA-POI and 100% 17OHAb-positive APS1 sera, and in 60% P450sccAb-positive SCA-POI and 80% P450sccAb-positive APS1 sera. For 21OHAb, IgG4 isotype was detected in 17% SCA-POI, 7% non-POI AAD, and 8% APS1 sera. None of the 17OHAb-positive sera was positive for IgG4. In P450sccAb-positive sera, 15% POI and 20% APS1 sera were positive for IgG4. Two 21OHAb-positive SCA-POI (7%), one 21OHAb-positive AAD (3%), three P450sccAb-positive SCA-POI (15%), and two P450sccAb-positive APS1 (20%) sera were positive for IgG4, in the absence of IgG1. All preclinical AAD sera resulted as positive for IgG1-21OHAb, but not for IgG4-21OHAb.ConclusionsThe autoantibody responses in POI and AAD are IgG1 dominated, which suggests a predominant Th1 response. Selective IgG4 isotype specificity identified a small subset of patients with Th2-oriented response.
Cortisol, DHEA sulphate, their ratio, and all-cause and cause-specific mortality in the Vietnam Experience Study
Authors: Phillips Anna C , Carroll Douglas , Gale Catharine R , Lord Janet M , Arlt Wiebke , Batty G David 
Published: May 2010

ObjectivesThe aim of the present analyses was to examine the association between cortisol, DHEA sulphate (DHEAS) and the cortisol:DHEAS ratio and mortality.DesignThis was a prospective cohort analysis.MethodsParticipants were 4255 Vietnam-era US army veterans. From military service files, telephone interviews and a medical examination, occupational, socio-demographic and health data were collected. Contemporary morning fasted cortisol and DHEAS concentrations were determined. Mortality was tracked over the subsequent 15 years. The outcomes were all-cause, cardiovascular disease, cancer, other medical mortality and external causes of death. Cox proportional hazard models were tested, initially with adjustment for age, and then with adjustment for a range of candidate confounders.ResultsIn general, cortisol concentrations did not show an association with all-cause or cause-specific mortality. However, in age-adjusted and fully adjusted analyses, DHEAS was negatively related to all-cause, all cancers and other medical mortality; high DHEAS concentrations were protective. The cortisol:DHEAS ratio was also associated with these outcomes in both age-adjusted and fully adjusted models; the higher the ratio, the greater the risk of death.ConclusionsDHEAS was negatively associated, and the ratio of cortisol to DHEAS was positively associated with all-cause, cancer and other medical cause mortality. Further experimental study is needed to elucidate the mechanisms involved in these relationships.
Genetic Evidence that the Acetylation of the Smc3p Subunit of Cohesin Modulates Its ATP-Bound State to Promote Cohesion Establishment in Saccharomyces cerevisiae
Authors: Heidinger-Pauli Jill M , Onn Itay , Koshland Douglas 
Published: May 2010

Abstract
Sister chromatid cohesion refers to the process by which sister chromatids are tethered together until the metaphase-to-anaphase transition. The evolutionarily conserved cohesin complex mediates sister chromatid cohesion. Cohesin not only ensures proper chromosome segregation, but also promotes high-fidelity DNA repair and transcriptional regulation. Two subunits of cohesin (Smc1p, Smc3p) are members of the structural maintenance of chromosomes (SMC) family. The SMC family is recognized by their large coiled-coil arms and conserved ATP-binding cassette-like ATPase domain. While both Smc1p and Smc3p ATP binding and hydrolysis are essential for cohesin function in vivo, little is known about how this core enzymatic activity is regulated to facilitate sister chromatid cohesion. Here we use SMC mutant proteins to block specific steps in cohesin's ATPase cycle in Saccharomyces cerevisiae. We show that blocking Smc3p-mediated ATP binding or Smc3p ATP hydrolysis traps unique functional states in cohesion. Finally, we provide evidence that Smc3p acetylation, which has an essential role in cohesion establishment, modulates the Smc3p ATP-bound state.
Paralogous Genes Involved in Juvenile Hormone Action in Drosophila melanogaster
Authors: Baumann Aaron , Barry Joshua , Wang Shaoli , Fujiwara Yoshihiro , Wilson Thomas G 
Published: May 2010

Abstract
Juvenile hormone (JH) is critical for multiple aspects of insect development and physiology. Although roles for the hormone have received considerable study, an understanding of the molecules necessary for JH action in insects has been frustratingly slow to evolve. Methoprene-tolerant (Met) in Drosophila melanogaster fulfills many of the requirements for a hormone receptor gene. A paralogous gene, germ-cell expressed (gce), possesses homology and is a candidate as a Met partner in JH action. Expression of gce was found to occur at multiple times and in multiple tissues during development, similar to that previously found for Met. To probe roles of this gene in JH action, we carried out in vivo gce over- and underexpression studies. We show by overexpression studies that gce can substitute in vivo for Met, alleviating preadult but not adult phenotypic characters. We also demonstrate that RNA interference-driven knockdown of gce expression in transgenic flies results in preadult lethality in the absence of MET. These results show that (1) unlike Met, gce is a vital gene and shows functional flexibility and (2) both gene products appear to promote JH action in preadult but not adult development.
Multiple Functions for Drosophila Mcm10 Suggested Through Analysis of Two Mcm10 Mutant Alleles
Authors: Apger Jennifer , Reubens Michael , Henderson Laura , Gouge Catherine A , Ilic Nina , Zhou Helen H , Christensen Tim W 
Published: May 2010

Abstract
DNA replication and the correct packaging of DNA into different states of chromatin are both essential processes in all eukaryotic cells. High-fidelity replication of DNA is essential for the transmission of genetic material to cells. Likewise the maintenance of the epigenetic chromatin states is essential to the faithful reproduction of the transcriptional state of the cell. It is becoming more apparent that these two processes are linked through interactions between DNA replication proteins and chromatin-associated proteins. In addition, more proteins are being discovered that have dual roles in both DNA replication and the maintenance of epigenetic states. We present an analysis of two Drosophila mutants in the conserved DNA replication protein Mcm10. A hypomorphic mutant demonstrates that Mcm10 has a role in heterochromatic silencing and chromosome condensation, while the analysis of a novel C-terminal truncation allele of Mcm10 suggests that an interaction with Mcm2 is not required for chromosome condensation and heterochromatic silencing but is important for DNA replication.
BUD22 Affects Ty1 Retrotransposition and Ribosome Biogenesis in Saccharomyces cerevisiae
Authors: Dakshinamurthy Arun , Nyswaner Katherine M , Farabaugh Philip J , Garfinkel David J 
Published: May 2010

Abstract
A variety of cellular factors affect the movement of the retrovirus-like transposon Ty1. To identify genes involved in Ty1 virus-like particle (VLP) function, the level of the major capsid protein (Gag-p45) and its proteolytic precursor (Gag-p49p) was monitored in a subset of Ty1 cofactor mutants. Twenty-nine of 87 mutants contained alterations in the level of Gag; however, only bud22Δ showed a striking defect in Gag processing. BUD22 affected the +1 translational frameshifting event required to express the Pol proteins protease, integrase, and reverse transcriptase. Therefore, it is possible that the bud22Δ mutant may not produce enough functional Ty1 protease to completely process Gag-p49 to p45. Furthermore, BUD22 is required for 18S rRNA processing and 40S subunit biogenesis and influences polysome density. Together our results suggest that BUD22 is involved in a step in ribosome biogenesis that not only affects general translation, but also may alter the frameshifting efficiency of ribosomes, an event central to Ty1 retrotransposition.
Coping with a Cleft II: Factors Associated with Psychosocial Adjustment of Adolescents with a Cleft Lip and Palate and Their Parents
Authors: Berger Zoe E. , Dalton Louise J. 
Published: May 2010

Objective To explore the factors that predict psychosocial adjustment in young people with a cleft and their parents. Design, Participants, Setting The study used a cross-sectional postal questionnaire design involving young people aged between 11 and 16 and their parents from two cleft services. Data are presented for 91 adolescents and their mothers. Main Outcome Measures Participants completed measures of psychological adjustment, coping, social experiences, satisfaction with appearance, stressful life events, cleft-related factors, and demographic information. Results Psychosocial adjustment in adolescents was predicted by their social experiences and maternal well-being. Satisfaction with appearance, perceived speech problems, and the use of avoidant coping strategies were also important factors relating to their adjustment. For mothers, adjustment was predicted by use of coping strategies such as self-blame, venting, and acceptance, in addition to perceived problems with their child's hearing and the number of stressful life events experienced. Conclusions The findings are discussed in relation to the concepts of adjustment, coping, satisfaction with appearance, and maternal mental health. Directions for future research are outlined, and a number of opportunities and challenges for cleft services regarding the provision of timely interventions for this age group and their families are discussed.
Survival of Dental Implants in the Cleft Area—a Retrospective Study
Authors: De Barros Ferreira Samuel , Esper Luis Augusto , Sbrana Michyele Cristhiane , Ribeiro Ingrid Webb Josephson , De Almeida Ana Lúcia Pompéia Fraga 
Published: May 2010

Objective To evaluate the survival rate of dental implants placed in the cleft area. Design Retrospective study. Setting Hospital for Rehabilitation of Craniofacial Anomalies, Brazil. Institutional Tertiary Healthcare Center. Patients 120 patients who received dental implants in the grafted cleft area in the years 1999 to 2005. Interventions Clinical data were evaluated from the records of 120 patients according to the following criteria: placement grafted, cleft area, and age at surgery; age at placement of dental implants; site and dimension of implants; interval between placement of implants and the last clinical follow-up; and interval between placement and removal or indication for removal of implants. Main Outcome Measures Percentage of survival rate of implants. Results Mean age at placement of the bone graft was 17.6 years and 21 years at placement of implants. A total of 123 cleft areas received secondary bone graft and bone graft to install implants (regraft). The mean survival rate was 34 months since placement of the implant to the last clinical follow-up and 26 months since placement of the prosthesis. Seven dental implants were removed. The survival rate since placement to the last clinical follow-up was 94.3%. Conclusion Rehabilitation of the cleft area with dental implants is a viable and secure alternative, with good prognosis.
Impact of a Cleft Lip and/or Palate on Maternal Stress and Attachment Representations
Authors: Despars Josée , Peter Camille , Borghini Ayala , Pierrehumbert Blaise , Habersaat Stéphanie , Müller-Nix Carole , Ansermet François , Hohlfeld Judith 
Published: May 2010

Objective The announcement, prenatally or at birth, of a cleft lip and/or palate represents a challenge for the parents. The purpose of this study is to identify parental working internal models of the child (parental representations of the child and relationship in the context of attachment theory) and posttraumatic stress disorder symptoms in mothers of infants born with a cleft. Method The study compares mothers with a child born with a cleft (n = 22) and mothers with a healthy infant (n = 36). Results The study shows that mothers of infants with a cleft more often experience insecure parental working internal models of the child and more posttraumatic stress symptoms than mothers of the control group. It is interesting that the severity or complexity of the cleft is not related to parental representations and posttraumatic stress disorder symptoms. The maternal emotional involvement, as expressed in maternal attachment representations, is higher in mothers of children with a cleft who had especially high posttraumatic stress disorder symptoms, as compared with mothers of children with a cleft having fewer posttraumatic stress disorder symptoms. Discussion Mothers of children with a cleft may benefit from supportive therapy regarding parent-child attachment, even when they express low posttraumatic stress disorder symptoms.
Inclusion Mucous Cysts of the Nose: A Late Complication after Septorhinoplasty in Two Cleft Lip Patients
Authors: Pausch Niels Christan , Bertolini Julia , Hemprich Alexander , Hierl Thomas 
Published: May 2010

Background Mucous cysts of the nose are a rare complication of rhinoplasty. They may develop as a result of implantation or herniation of mucosa. The entrapped epithelium may proliferate, forming a subcutaneous cyst. Patients and Methods Two patients with unilateral cleft lip nose deformity had previously undergone corrective rhinoplasty. Years after the operation, they noticed a growing mass in the nasal dorsum and presented for revision rhinoplasty. Complete surgical removal was performed by an open approach, and plastic reconstruction was performed with a rib cartilaginous graft. Results In both cases, histopathological investigation revealed a mucous cyst. No recurrence of disease was observed over 2 years of monitoring. Conclusion Nasal mucous cysts are not specific complications of corrective surgery for cleft lip nose. Displacement of fragments of epithelium should be avoided to prevent this unwanted sequela. For complete removal, open rhinoplasty is recommended.
Treatment Modalities of Infants with Upper Airway Obstruction—Review of the Literature and Presentation of Novel Orthopedic Appliances
Authors: Kochel Janka , Meyer-Marcotty Philipp , Wirbelauer Johannes , Böhm Hartmut , Kochel Michael , Thomas Wolfgang , Bareis Ute , Hebestreit Helge , Speer Christian , Stellzig-Eisenhauer Angelika 
Published: May 2010

Objective To present a new orthopedic method for treatment of infants with Pierre Robin sequence (PRS) and upper airway obstruction (UAO) as an alternative to other established nonsurgical and surgical techniques such as positioning, nasopharyngeal or endotracheal intubation, tongue-lip adhesion, extension, distraction, or tracheostomy. Design Review of the literature and presentation of novel orthopedic appliances. Setting Department of Orthodontics, Dental Clinic, Medical Faculty of the University of Wuerzburg, Germany, Department and Clinic of Pediatrics, Medical Faculty of the University of Wuerzburg, Germany, 2005 to 2008. Patients Seven patients with significant respiratory and feeding difficulties between 0 and 6 months of age. Both patients with nonsyndromic PRS and patients with syndromic PRS were included. Interventions The type of respiratory tract obstruction was defined by nasopharyngoscopy. Patients with type 1 obstruction received a plate with an epiglottic spur; whereas, patients with obstruction type 2, 3, or 4 received a plate with a pharyngeal tube. Results All patients were successfully treated with orthopedic appliances alone. Under plate therapy they showed good oxygen saturation and could consequently be better nourished orally. Conclusions The presented novel method is a noninvasive technique in treatment of infants with UAO.
Maxillary Movement in Distraction Osteogenesis Using Internal Devices in Cleft Palate Patients
Authors: Tomita Daisuke , Omura Susumu , Ozaki Shusaku , Shimazaki Kazuo , Fukuyama Eiji , Tohnai Iwai , Torikai Katsuyuki 
Published: May 2010

Objective The purpose of this cephalometric study was to compare the actual movement with the planned movement of the maxilla by using internal maxillary distraction in cleft lip and palate patients. Patients Twelve patients, including eight with unilateral and four with bilateral cleft lip and palate, underwent maxillary advancement with internal maxillary distractors. Main Outcome Measures Lateral cephalometric radiographs obtained preoperatively, predistraction, and postdistraction were used for analysis. The movement of the maxilla, angular change of the internal devices and rotation of the mandible were measured at each stage, and the planned vector of advancement predicted from the placement vector of the distractors was compared with the actual vector. Results Internal maxillary distractors were rotated in a clockwise direction during the distraction period. The angular change of the distractors was 7.7°. The amount of actual advancement at anterior nasal spine with distraction was 6.3 mm, which represented about 70% of the distance of activation of distraction. The actual advanced vector at anterior nasal spine was 9.7 smaller than the planned vector. The mandible underwent a clockwise rotation of 3.5°. Conclusion In the internal distraction technique, the maxilla was advanced inferiorly to the planned vector and with a slight clockwise rotation. These results are useful for surgical planning when using internal distractors.
Objective Three-Dimensional Assessment of Lip Form in Patients with Repaired Cleft Lip
Authors: Tanikawa Chihiro , Takada Kenji , Van Aalst John , Trotman Carroll Ann 
Published: May 2010

Objectives To measure and compare three-dimensional lip form in participants with a repaired cleft lip and noncleft control participants. Design Retrospective study. Three-dimensional facial images of each participant were obtained. Participants The sample consisted of two groups: a repaired cleft lip group (n = 57) and a noncleft “normal” group (n = 28). Main Outcome Measures Thirty-four variables that described the features of each participant's lip form were extracted from the image data. A t test was used for each variable to test for significant differences between the groups, and a mathematical technique was used to categorize the lip forms in both groups. Results Seventeen variables showed significant between-group differences. The differences were focused on the free edges of the upper and lower lip vermilion borders, upper and lower lip protrusion, and lip symmetry. Lip forms were described by seven categories. Participants with cleft lip were represented in all categories but fell mainly into two categories at one extreme. Noncleft participants were represented in five categories but also exclusively in two categories at the other extreme from participants with a repaired cleft lip. The findings show greater variation in lip form for the participants with a cleft lip. Conclusion Three-dimensional lip form in participants with a repaired cleft lip was found to have greater variation and to be significantly different from that in noncleft participants. This method can be used to assess surgical outcomes of lip form.
The Relationship between Nasalance Scores and Nasality Ratings Obtained with Equal Appearing Interval and Direct Magnitude Estimation Scaling Methods
Authors: Brancamp Tami U. , Lewis Kerry E. , Watterson Thomas 
Published: May 2010

Objectives To assess the nasalance/nasality relationship and Nasometer test sensitivity and specificity when nasality ratings are obtained with both equal appearing interval (EAI) and direct magnitude estimation (DME) scaling procedures. To test the linearity of the relationship between nasality ratings obtained from different perceptual scales. Stimuli Audio recordings of the Turtle Passage. Design Participants' nasalance scores and audio recordings were obtained simultaneously. A single judge rated the samples for nasality using both EAI and DME scaling procedures. Participants Thirty-nine participants 3 to 17 years of age. Across participants, resonance ranged from normal to severely hypernasal. Main Outcome Measures Nasalance scores and two nasality ratings. Results The magnitude of the correlation between nasalance scores and EAI ratings of nasality ( r= .63) and between nasalance and DME ratings of nasality ( r= .59) was not significantly different. Nasometer test sensitivity and specificity for EAI-rated nasality were .71 and .73, respectively. For DME-rated nasality, sensitivity and specificity were .62 and .70, respectively. Regression of EAI nasality ratings on DME nasality ratings did not depart significantly from linearity. Conclusions No difference was found in the relationship between nasalance and nasality when nasality was rated using EAI as opposed to DME procedures. Nasometer test sensitivity and specificity were similar for EAI-and DME-rated nasality. A linear model accounted for the greatest proportion of explained variance in EAI and DME ratings. Consequently, clinicians should be able to obtain valid and reliable estimates of nasality using EAI or DME.
Finite Element Analysis of Eustachian Tube Function in Cleft Palate Infants Based on Histological Reconstructions
Authors: Sheer F.J. , Swarts J.D. , Ghadiali S.N. 
Published: May 2010

Introduction The prevalence of otitis media with effusion approaches 100% in infants with cleft palate (CP), and disease pathogenesis is believed to be caused by eustachian tube (ET) dysfunction. Objectives Quantify the functional consequences of ET anatomy in infant CP specimens, and identify the relative importance of various tissue biomechanical properties on ET function in infants with CP. Methods Finite element models of ET anatomy and physiology were developed by using image analysis and three-dimensional (3D) reconstruction techniques. Models were developed using histological images of ET structures obtained from five infant CP specimens. The models were parameterized, and the effects of varying model parameters, which included tensor veli palatini and levator veli palatini force, ET cartilage, periluminal mucosal compliance, and hamular position on resistance to airflow through the tubal lumen, were determined. Results Of the evaluated parameters, only applied tensor veli palatini muscle force and compliance of the periluminal mucosa and cartilage tissues were significant predictors of resistance to airflow through the ET during muscle-assisted opening. Conclusions Finite element models of ET function in the CP infant identified tensor veli palatini muscle force as a direct predictor and mucosal/cartilage compliance as an indirect predictor of ET opening during muscle-assisted lumen dilations. Hamular position and levator veli palatini force were not found to have an effect on ET function in CP infants.