bluuebunny/crossref_metadata_2025_split huggingface dataset:
Aryl Hydrocarbon Receptor-Interacting Protein Gene Mutations in Familial Isolated Pituitary Adenomas: Analysis in 73 Families
Authors: Daly Adrian F. , Vanbellinghen Jean-François , Khoo Sok Kean , Jaffrain-Rea Marie-Lise , Naves Luciana A. , Guitelman Mirtha A. , Murat Arnaud , Emy Philippe , Gimenez-Roqueplo Anne-Paule , Tamburrano Guido , Raverot Gérald , Barlier Anne , De Herder Wouter , Penfornis Alfred , Ciccarelli Enrica , Estour Bruno , Lecomte Pierre , Gatta Blandine , Chabre Olivier , Sabaté María Isabel , Bertagna Xavier , Garcia Basavilbaso Natalia , Stalldecker Graciela , Colao Annamaria , Ferolla Piero , Wémeau Jean-Louis , Caron Philippe , Sadoul Jean-Louis , Oneto Adriana , Archambeaud Françoise , Calender Alain , Sinilnikova Olga , Montañana Carmen Fajardo , Cavagnini Francesco , Hana Vaclav , Solano Angela , Delettieres Dreanina , Luccio-Camelo Douglas C. , Basso Armando , Rohmer Vincent , Brue Thierry , Bours Vincent , Teh Bin Tean , Beckers Albert 
Published: January 2007

Abstract
Context: An association between germline aryl hydrocarbon receptor-interacting protein (AIP) gene mutations and pituitary adenomas was recently shown.
Objective: The objective of the study was to assess the frequency of AIP gene mutations in a large cohort of patients with familial isolated pituitary adenoma (FIPA).
Design: This was a multicenter, international, collaborative study.
Setting: The study was conducted in 34 university endocrinology and genetics departments in nine countries.
Patients: Affected members from each FIPA family were studied. Relatives of patients with AIP mutations underwent AIP sequence analysis.
Main Outcome Measures: Presence/absence and description of AIP gene mutations were the main outcome measures.
Intervention: There was no intervention.
Results: Seventy-three FIPA families were identified, with 156 patients with pituitary adenomas; the FIPA cohort was evenly divided between families with homogeneous and heterogeneous tumor expression. Eleven FIPA families had 10 germline AIP mutations. Nine mutations, R16H, G47_R54del, Q142X, E174frameshift, Q217X, Q239X, K241E, R271W, and Q285frameshift, have not been described previously. Tumors were significantly larger (P = 0.0005) and diagnosed at a younger age (P = 0.0006) in AIP mutation-positive vs. mutation-negative subjects. Somatotropinomas predominated among FIPA families with AIP mutations, but mixed GH/prolactin-secreting tumors, prolactinomas, and nonsecreting adenomas were also noted. Approximately 85% of the FIPA cohort and 50% of those with familial somatotropinomas were negative for AIP mutations.
Conclusions: AIP mutations, of which nine new mutations have been described here, occur in approximately 15% of FIPA families. Although pituitary tumors occurring in association with AIP mutations are predominantly somatotropinomas, other tumor types are also seen. Further study of the impact of AIP mutations on protein expression and activity is necessary to elucidate their role in pituitary tumorigenesis in FIPA.
Osteogenic protein-1 increases the fixation of implants grafted with morcellised bone allograft and ProOsteon bone substitute
Authors: Jensen T. B. , Overgaard S. , Lind M. , Rahbek O. , Bünger C. , Søballe K. 
Published: January 2007

Impacted bone allograft is often used in revision joint replacement. Hydroxyapatite granules have been suggested as a substitute or to enhance morcellised bone allograft. We hypothesised that adding osteogenic protein-1 to a composite of bone allograft and non-resorbable hydroxyapatite granules (ProOsteon) would improve the incorporation of bone and implant fixation. We also compared the response to using ProOsteon alone against bone allograft used in isolation. We implanted two non-weight-bearing hydroxyapatite-coated implants into each proximal humerus of six dogs, with each implant surrounded by a concentric 3 mm gap. These gaps were randomly allocated to four different procedures in each dog: 1) bone allograft used on its own; 2) ProOsteon used on its own; 3) allograft and ProOsteon used together; or 4) allograft and ProOsteon with the addition of osteogenic protein-1. After three weeks osteogenic protein-1 increased bone formation and the energy absorption of implants grafted with allograft and ProOsteon. A composite of allograft, ProOsteon and osteogenic protein-1 was comparable, but not superior to, allograft used on its own. ProOsteon alone cannot be recommended as a substitute for allograft around non-cemented implants, but should be used to extend the volume of the graft, preferably with the addition of a growth factor.
Interleukin-6, procalcitonin and TNF-α
Authors: Bottner F. , Wegner A. , Winkelmann W. , Becker K. , Erren M. , Götze C. 
Published: January 2007

This prospective study evaluates the role of new laboratory markers in the diagnosis of deep implant infection in 78 patients (41 men and 37 women) with a revision total knee or hip replacement. The mean age at the time of operation was 64.0 years (19 to 90). Intra-operative cultures showed that 21 patients had a septic and 57 an aseptic total joint replacement. The white blood cell count, the erythrocyte sedimentation rate and levels of C-reactive protein, interleukin-6, procalcitonin and tumour necrosis factor (TNF)-α were measured in blood samples before operation. The diagnostic cut-off values were determined by Received Operating Characteristic curve analysis. C-reactive protein (> 3.2 md/dl) and interleukin-6 (> 12 pg/ml) have the highest sensitivity (0.95). Interleukin-6 is less specific than C-reactive protein (0.87 vs 0.96). Combining C-reactive protein and interleukin-6 identifies all patients with deep infection of the implant. Procalcitonin (> 0.3 ng/ml) and TNF-α (> 40 ng/ml) are very specific (0.98 vs 0.94) but have a low sensitivity (0.33 vs 0.43). The combination of C-reactive protein and interleukin-6 measurement provide excellent screening tests for infection of a deep implant. A highly specific marker such as procalcitonin and pre-operative aspiration of the joint might be useful in identifying patients with true positive C-reactive protein and/or interleukin-6 levels.
Determining the rotational alignment of the tibial component at total knee replacement
Authors: Ikeuchi M. , Yamanaka N. , Okanoue Y. , Ueta E. , Tani T. 
Published: January 2007

We prospectively assessed the benefits of using either a range-of-movement technique or an anatomical landmark method to determine the rotational alignment of the tibial component during total knee replacement. We analysed the cut proximal tibia intraoperatively, determining anteroposterior axes by the range-of-movement technique and comparing them with the anatomical anteroposterior axis. We found that the range-of-movement technique tended to leave the tibial component more internally rotated than when anatomical landmarks were used. In addition, it gave widely variable results (mean 7.5°; 2° to 17°), determined to some extent by which posterior reference point was used. Because of the wide variability and the possibilities for error, we consider that it is inappropriate to use the range-of-movement technique as the sole method of determining alignment of the tibial component during total knee replacement.
Tibiofibular synostosis in a professional football player
Authors: James S. H. , Carpenter E. C. , Fairclough J. A. 
Published: January 2007

We present an unusual cause of anterior tibial pain in a 24-year-old professional international football player who was found to have a synostosis of the middle-third of the diaphysis of the tibia and fibula. This is a rarely described phenomenon. Conservative treatment is the recommended treatment of choice, but this failed in our patient. Resection produced resolution of symptoms; he remained symptom-free three years later.
Revision total hip replacement using the Kerboull acetabular reinforcement device with morsellised or bulk graft
Authors: Kawanabe K. , Akiyama H. , Onishi E. , Nakamura T. 
Published: January 2007

We retrospectively evaluated 42 hips which had undergone acetabular reconstruction using the Kerboull acetabular reinforcement device between September 1994 and December 1998. We used autogenous bone chips from the ilium and ceramic particle morsellised grafts, even in large acetabular bone defects, in the early stages of the study. Thereafter, femoral head allograft was used as bulk graft in patients with large acetabular defects. Ceramic blocks and the patients’ contralateral femoral head were also used as bulk graft. The mean follow-up period was 8.7 years (4.3 to 12). Survivorship analysis was performed using radiological failure of the acetabular component, irrespective of whether it was revised, or not, as the end-point. The survival rate of the morsellised graft group (25 hips) and the bulk graft group (17 hips) at ten years was 53% (95% confidence interval (CI) 42.5% to 63.5%) and 82% (95% CI 72.4% to 91.6%), respectively. The mid-term results of revision total hip replacement with the Kerboull device were better when bulk graft was used in any size of bone defect.
The outcome of peri-operative humeral condylar fractures after total elbow replacement in patients with rheumatoid arthritis
Authors: Ito H. , Matsumoto T. , Yoshitomi H. , Kakinoki R. , Nakamura T. 
Published: January 2007

We compared the outcome of peri-operative humeral condylar fractures in patients undergoing a Coonrad-Morrey semiconstrained total elbow replacement with that of patients with rheumatoid arthritis undergoing the same procedure without fractures. In a consecutive series of 40 elbows in 33 patients, 13 elbows had a fracture in either condyle peri-operatively, and 27 elbows were intact. The fractured condyle was either fixed internally or excised. We found no statistical difference in the patients’ background, such as age, length of follow-up, immobilisation period, Larsen’s radiological grade, or Steinbrocker’s stage and functional class. There was also no statistical difference between the groups in relation to the Mayo Elbow Performance Score, muscle strength, range of movement, or radiolucency around the implants at a mean of 4.8 years (1.1 to 8.0) follow-up. We conclude that fractured condyles can be successfully treated with either internal fixation or excision, and cause no harmful effect.
Conservative treatment of isolated fractures of the medial malleolus
Authors: Herscovici D. , Scaduto J. M. , Infante A. 
Published: January 2007

Between 1992 and 2000, 57 patients with 57 isolated fractures of the medial malleolus were treated conservatively by immobilisation in a cast. The results were assessed by examination, radiography and completion of the short form-36 questionnaire and American Orthopaedic Foot and Ankle Society ankle-hindfoot score. Of the 57 fractures 55 healed without further treatment. The mean combined dorsi- and plantar flexion was 52.3° (25° to 82°) and the mean short form-36 and American Orthopaedic Foot and Ankle Society scores 48.1 (28 to 60) and 89.8 (69 to 100), respectively. At review there was no evidence of medial instability, dermatological complications, malalignment of the mortise or of post-traumatic arthritis. Isolated fractures of the medial malleolus can obtain high rates of union and good functional results with conservative treatment. Operation should be reserved for bi- or trimalleolar fractures, open fractures, injuries which compromise the skin or those involving the plafond or for patients who develop painful nonunion.
Treatment of osteonecrosis of the femoral head with hBMP-2-gene-modified tissue-engineered bone in goats
Authors: Tang T. T. , Lu B. , Yue B. , Xie X. H. , Xie Y. Z. , Dai K. R. , Lu J. X. , Lou J. R. 
Published: January 2007

The efficacy of β-tricalcium phosphate (β-TCP) loaded with bone morphogenetic protein-2 (BMP-2)-gene-modified bone-marrow mesenchymal stem cells (BMSCs) was evaluated for the repair of experimentally-induced osteonecrosis of the femoral head in goats. Bilateral early-stage osteonecrosis was induced in adult goats three weeks after ligation of the lateral and medial circumflex arteries and delivery of liquid nitrogen into the femoral head. After core decompression, porous β-TCP loaded with BMP-2 gene- or β-galactosidase (gal)-gene-transduced BMSCs was implanted into the left and right femoral heads, respectively. At 16 weeks after implantation, there was collapse of the femoral head in the untreated group but not in the BMP-2 or β-gal groups. The femoral heads in the BMP-2 group had a normal density and surface, while those in the β-gal group presented with a low density and an irregular surface. Histologically, new bone and fibrous tissue were formed in the macropores of the β-TCP. Sixteen weeks after implantation, lamellar bone had formed in the BMP-2 group, but there were some empty cavities and residual fibrous tissue in the β-gal group. The new bone volume in the BMP-2 group was significantly higher than that in the β-gal group. The maximum compressive strength and Young’s modulus of the repaired tissue in the BMP-2 group were similar to those of normal bone and significantly higher than those in the β-gal group. Our findings indicate that porous β-TCP loaded with BMP-2-gene-transduced BMSCs are capable of repairing early-stage, experimentally-induced osteonecrosis of the femoral head and of restoring its mechanical function.
Reduction of the potential for thermal damage during hip resurfacing
Authors: Gill H. S. , Campbell P. A. , Murray D. W. , De Smet K. A. 
Published: January 2007

Resurfacing arthroplasty of the hip is being used increasingly as an alternative to total hip replacement, especially for young active patients. There is concern about necrosis of the femoral head after resurfacing which can result in fracture and loosening. Most systems use a cemented femoral component, with the potential for thermal necrosis of the cancellous bone of the reamed femoral head. We used thermal probes to record temperatures close to the cement-bone interface during resurfacing arthroplasty. The maximum temperature recorded at the cement-bone interface in four cases was approximately 68°C which was higher than that reported to kill osteocytes. A modified surgical technique using insertion of a suction cannula into the lesser trochanter, generous pulsed lavage and early reduction of the joint significantly reduced the maximum recorded cancellous bone temperature to approximately 36°C in five cases (p = 0.014). We recommend the modified technique since it significantly reduces temperatures at the cement-bone interface.
A Homogeneous Assay for Analysis of FMR1 Promoter Methylation in Patients with Fragile X Syndrome
Authors: Dahl Christina , Grønskov Karen , Larsen Lars A , Guldberg Per , Brøndum-Nielsen Karen 
Published: January 2007

Abstract
Background: Fragile X syndrome is caused by the expansion of a CGG trinucleotide repeat at the 5′ untranslated region of the fragile X mental retardation 1 gene (FMR1). When expanded to &gt;200 repeats (full mutation), the repeat region and the adjacent promoter CpG island become hypermethylated, rendering FMR1 transcriptionally inactive. Conventional molecular diagnosis of fragile X syndrome involves determination of the CGG repeat number by Southern blot analysis.
Methods: A homogeneous methylation-specific melting curve analysis (MS-MCA) assay for methylation status of the FMR1 promoter region was developed on the LightCycler platform. Genomic DNA was treated with sodium bisulfite, and a region containing 8 CpG sites was amplified in the presence of SYBR Green I, using primers that do not differentiate between methylated and unmethylated FMR1 molecules. After amplification, the samples were melted at 0.05 °C/s, and fluorescence melting curves were recorded. We studied samples, previously characterized by Southern blot analyses, from 10 female and 10 male donors with normal numbers of CGG trinucleotide repeats, 9 male donors who were premutation carriers, 4 male donors who carried both a premutation and a full mutation, and 25 patients with fragile X syndrome.
Results: Samples from all 20 male patients with fragile X syndrome showed a high melting peak corresponding to fully methylated FMR1, whereas samples from healthy males showed a single low melting peak corresponding to unmethylated FMR1. Of 24 samples from affected males, 9 (38%) showed 2 melting peaks, suggesting that cellular methylation mosaicism is common in fragile X syndrome.
Conclusions: MS-MCA allows rapid and reliable identification of fragile X syndrome in male patients.
Developmental Changes in Cardiomyocytes Differentiated from Human Embryonic Stem Cells: A Molecular and Electrophysiological Approach
Authors: Sartiani Laura , Bettiol Esther , Stillitano Francesca , Mugelli Alessandro , Cerbai Elisabetta , Jaconi Marisa E. 
Published: January 2007

AbstractCardiomyocytes derived from human embryonic stem cells constitute a promising cell source for the regeneration of damaged hearts. The assessment of their in vitro functional properties is mandatory to envisage appropriate cardiac cell-based therapies. In this study, we characterized human embryonic stem cell-derived cardiomyocytes over a 3-month period, using patch-clamp or intracellular recordings to assess their functional maturation and reverse transcriptase-polymerase chain reaction to evaluate the expression of ion channel-encoding subunits. Ito1 and IK1, the transient outward and inward rectifier potassium currents, were present in cardiomyocytes only, whereas the rapid delayed rectifier potassium current (IKr), pacemaker current (If), and L-type calcium current (ICa,L) could be recorded both in undifferentiated human embryonic stem cells and in cardiomyocytes. Most of the currents underwent developmental maturation in cardiomyocytes, as assessed by modifications in current density (Ito1, IK1, and ICa,L) and properties (If). Ion-channel mRNAs were always present when the current was recorded. Intracellular recordings in spontaneously beating clusters of cardiomyocytes revealed changes in action potential parameters and in response to pharmacological tools according to time of differentiation. In summary, human embryonic stem cell-derived cardiomyocytes mature over time during in vitro differentiation, approaching an adult phenotype.Disclosure of potential conflicts of interest is found at the end of this article.
Differentiation of Human Embryonic Stem Cells into Corneal Epithelial-Like Cells by In Vitro Replication of the Corneal Epithelial Stem Cell Niche
Authors: Ahmad Sajjad , Stewart Rebecca , Yung Sun , Kolli Sai , Armstrong Lyle , Stojkovic Miodrag , Figueiredo Francisco , Lako Majlinda 
Published: January 2007

Abstract
Human embryonic stem cells (hESCs) are pluripotent cells capable of differentiating into any cell type of the body. It has long been known that the adult stem cell niche is vital for the maintenance of adult stem cells. The cornea at the front of the eye is covered by a stratified epithelium that is renewed by stem cells located at its periphery in a region known as the limbus. These so-called limbal stem cells are maintained by factors within the limbal microenvironment, including collagen IV in basement membrane and limbal fibroblasts in the stroma. Because this niche is very specific to the stem cells (rather than to the more differentiated cells) of the corneal epithelium, it was hypothesized that replication of these factors in vitro would result in hESC differentiation into corneal epithelial-like cells. Indeed, here we show that culturing of hESC on collagen IV using medium conditioned by the limbal fibroblasts results in the loss of pluripotency and differentiation into epithelial-like cells. Further differentiation results in the formation of terminally differentiated epithelial-like cells not only of the cornea but also of skin. Scanning electron microscopy shows that some differences exist between hESC-derived and adult limbal epithelial-like cells, necessitating further investigation using in vivo animal models of limbal stem cell deficiency. Such a model of hESC differentiation is useful for understanding the early events of epithelial lineage specification and to the eventual potential application of epithelium differentiated from hESC for clinical conditions of epithelial stem cell loss.
Disclosure of potential conflicts of interest is found at the end of this article.
Best Management Practices for Nutrient and Sediment Retention in Urban Stormwater Runoff
Authors: Hogan Dianna M. , Walbridge Mark R. 
Published: January 2007

ABSTRACTStormwater management infrastructure is utilized in urban areas to alleviate flooding caused by decreased landscape permeability from increased impervious surface cover (ISC) construction. In this study, we examined two types of stormwater detention basins, SDB‐BMPs (stormwater detention basin‐best management practice), and SDB‐FCs (stormwater detention basin–flood control). Both are constructed to retain peak stormwater flows for flood mitigation. However, the SDB‐BMPs are also designed using basin topography and wetland vegetation to provide water quality improvement (nutrient and sediment removal and retention). The objective of this study was to compare SDB (both SDB‐BMP and SDB‐FC) surface soil P concentrations, P saturation, and Fe chemistry with natural riparian wetlands (RWs), using sites in Fairfax County, Virginia as a model system. The SDB‐BMPs had significantly greater surface soil total P (Pt) concentrations than the RWs and SDB‐FCs (831.9 ± 32.5 kg ha−1, 643.3 ± 19.1 kg ha−1, and 652.1 ± 18.8 kg ha−1, respectively). The soil P sorption capacities of SDB‐BMPs were similar to the RWs, and were greater than those of SDB‐FCs, appearing to result in greater soil P removal and retention in SDB‐BMPs compared with SDB‐FCs. Increased Fe concentrations and relatively greater amounts of more crystalline forms of Fe in SDB‐BMP soils suggested increased sediment deposition compared with RW and SDB‐FC soils. Data suggest that SDB nutrient and sediment retention is facilitated in SDB‐BMPs. When stormwater management is necessary, use of SDB‐BMPs instead of SDB‐FCs could foster more responsible urban development and be an appropriate mitigation action for receiving aquatic ecosystems.
Economically Optimal Nitrogen Rate Reduces Soil Residual Nitrate
Authors: Hong Nan , Scharf Peter C. , Davis J. Glenn , Kitchen Newell R. , Sudduth Kenneth A. 
Published: January 2007

ABSTRACTPost‐harvest residual soil NO3–N (RSN) is susceptible to transfer to water resources. Practices that minimize RSN levels can reduce N loss to the environment. Our objectives were (i) to determine if the RSN after corn (Zea maysL.) harvest can be reduced if N fertilizer is applied at the economically optimal N rate (EONR) as compared to current producer practices in the midwestern USA and (ii) to compare RSN levels for N fertilizer rates below, at, and above the EONR. Six experiments were conducted in producer fields in three major soil areas (Mississippi Delta alluvial, deep loess, claypan) in Missouri over 2 yr. Predominant soil great groups were Albaqualfs, Argiudolls, Haplaquolls, and Fluvaquents. At four transects in each field, six treatment N rates from 0 to 280 kg N ha−1were applied, the EONR was determined, and the RSN was measured to a 0.9‐m depth from five treatment plots. The EONR at sampling sites varied from 49 to 228 kg N ha−1depending on site and year. Estimated average RSN at the EONR was 33 kg N ha−1in the 0.9‐m profile. This was at least 12 kg N ha−1lower than RSN at the producers' N rates. The RSN increased with increasing ΔEONR (total N applied − EONR). This relationship was best modeled by a plateau‐linear function, with a low RSN plateau at N rates well below the EONR. A linear increase in RSN began anywhere from 65 kg N ha−1below the EONR to 20 kg N ha−1above the EONR at the three sites with good data resolution near the EONR. Applying N rates in excess of the EONR produced elevated RSN values in all six experiments. Our results suggest that applying the EONR will produce environmental benefits in an economically sound manner, and that continued attempts to develop methods for accurately predicting EONR are justified.