bluuebunny/crossref_metadata_2025_split huggingface dataset:
Abnormal sterol metabolism in holoprosencephaly
Authors: Haas Dorothea , Muenke Maximilian 
Published: January 2010

AbstractHoloprosencephaly (HPE) is the most common structural malformation of the developing forebrain in humans. The HPE phenotype is extremely variable and the etiology is heterogeneous. Among a variety of embryological toxins that can induce HPE, inhibitors, and other pertubations of cholesterol biosynthesis have been shown to be important factors, most likely because cholesterol is required in the Sonic hedgehog signaling cascade. Decreased levels of maternal cholesterol during pregnancy increase the risk for preterm delivery, but they are not associated with congenital malformations. However, if the fetus is affected by an inborn error of endogenous cholesterol synthesis, a reduction of maternal cholesterol concentration and cholesterol transport over the placenta aggravates the phenotypic expression. Exposure to lipophilic statins in early pregnancy may be associated with a substantial risk for structural CNS defects. © 2010 Wiley‐Liss, Inc.
The Lymph Node Revisited: Development, Morphology, Functioning, and Role in Triggering Primary Immune Responses
Authors: Sainte‐Marie Guy 
Published: January 2010

AbstractScenarios have been proposed to explain how lymphoid components of a lymph node favor the encounter of a drained antigen with a circulating competent naïve lymphocyte to trigger a primary immune response. However, these scenarios rest on incorrect concepts about the organ. This situation resulted from a loss of interest for studies on in vivo lymphoid organs due to a widespread switch, decades ago, to work on suspended lymphoid cells. However, an in vivo holistic study of the organ continued in our laboratory. The present review synthesizes resulting knowledge on lymph node morphology and global functioning. We show that the opening of an afferent lymphatic vessel into the subcapsular sinus is the focal point from which the related portion of a lymph node—a node compartment—is developed. As to the formation of a compartment's lymphoid components, it is neonatally orchestrated by the dichotomic nature and distribution of antigens in this subcapsular sinus, which determines a dichotomic recruitment of circulating cells and the compartment's architectural complexity. The transport process of an antigen from a given tissue territory into restricted sites of the draining compartment further defines its local morphological features and activities, while providing the possibility to reduce the wandering of a short‐lived naïve cell through innumerable target‐devoid sites. We also explain that the nodal lymphoid components are not implicated in the triggering of primary responses, but are rather products of such responses. Scenarios for the triggering of primary responses, consistent with real node morphology and functioning, are proposed. Anat Rec, 293:320–337, 2010. © 2010 Wiley‐Liss, Inc.
Hair Whorls in the Dog (Canis familiaris). I. Distribution
Authors: Tomkins L.M. , Mcgreevy P.D. 
Published: January 2010

AbstractHair whorl characteristics were assessed in the domestic dog (Canis familiaris) in the regions of cephalic, cervical (dorsal, ventral, and lateral), thoracic and brachial axillary regions, the chest, shoulders, elbows, ventral abdominal region, and on the caudal thighs (ischiatic). They were classified as simple or tufted, and their position was recorded as the distance between their centers and bony landmarks within each region. The distribution of whorls was explored in a cohort of domestic dogs (N = 120) comprising a variety of breeds and cross‐breeds, sourced from shelters (N = 60) and the general public (N = 60). Whorls observed in the majority of dogs in this cohort typically occurred on the chest, brachial axillary region, elbows, and ischiatic region. Atypical whorls were present in fewer than 20% of the population, and included those on the head (cephalic), cervical regions (dorsal, ventral, and lateral), shoulders, thoracic axillary region, and on the ventral abdominal region. The majority of whorls on dogs were classified as simple. In contrast, those located on the elbows and the majority of chest whorls were tufted. The presence and position of whorls were often associated with several variables including coat length and thickness, and the sex and source of the dog. The palpation and hair‐cluster method of whorl assessment described in this article is best suited to dogs with short‐to‐medium coat lengths. The current methodology developed to assess hair whorl characteristics provides a framework for future investigations into any associations between hair whorl characteristics and other canine traits such as temperament. Anat Rec, 293:338–350, 2010. © 2010 Wiley‐Liss, Inc.
The Relationship Between Cephalic Scales and Bones in Lizards: A Preliminary Microtomographic Survey on Three Lacertid Species
Authors: Costantini David , Alonso Maria Lapresa , Moazen Mehran , Bruner Emiliano 
Published: January 2010

Abstract3‐Dimensional models by surface rendering of the skull of L. bilineata. See Costantini et al., on page 186, in this issue. Anatomical Record 293:183–194.
Premature arthritis is a distinct type II collagen phenotype
Authors: Kannu Peter , Bateman John F. , Randle Susan , Cowie Shannon , du Sart Desiree , McGrath Shaun , Edwards Matthew , Savarirayan Ravi 
Published: January 2010

AbstractMutations in the gene encoding type II collagen (COL2A1) give rise to a spectrum of phenotypes predominantly affecting cartilage and bone. These chondrodysplasias are typically characterized by disproportionately short stature, eye abnormalities, cleft palate, and hearing loss. It is less recognized that mutations in COL2A1 can also present as degenerative joint disease in the absence of any other phenotypic clues. We report 2 Australian families presenting with an isolated arthritis phenotype, segregating as a dominant trait affecting both large and small joints, prior to age 30 years. Sequencing of COL2A1 in the propositi revealed 2 sequence changes resulting in glycine substitutions in the triple‐helical domain of type II collagen. We review the increasing evidence implicating COL2A1 mutations in individuals presenting with isolated degenerative joint disease, aiming to alert physicians who assess these patients to this possibility. The importance of finding a COL2A1 mutation in such patients lies in the subsequent ability to accurately assess recurrence risks, offer early (including prenatal) diagnosis, and provide information regarding the natural history of the condition. Most importantly, it enables at‐risk individuals to be identified for implementation of preventative strategies (i.e., weight loss, joint‐friendly exercise programs) and early ameliorative management of their condition.
Cellular characterization of the gouty tophus: A quantitative analysis
Authors: Dalbeth Nicola , Pool Bregina , Gamble Greg D. , Smith Timothy , Callon Karen E. , McQueen Fiona M. , Cornish Jillian 
Published: January 2010

AbstractObjectiveTo characterize the cellular architecture of the tophus and to determine the presence of cytokines implicated in the initiation and resolution of gouty inflammation.MethodsSixteen fixed, paraffin‐embedded, uninfected tophus samples were surgically obtained from 12 patients with microscopically proven gout and were analyzed by quantitative immunohistochemistry. The number of cells present in the corona and fibrovascular zones of the tophus was analyzed by Genmod mixed models analysis.ResultsNumerous CD68+ mononucleated and multinucleated cells were present within the corona zone. Mast cells were identified in all tophus samples and at similar densities throughout the corona and fibrovascular zones. In contrast, neutrophils were rarely observed. Plasma cells were present in very high numbers within the corona zone. The overall number of CD20+ B cells was much lower. However, in 6 of 12 patients (50%), at least 1 B cell aggregate was present in the fibrovascular zone. Large numbers of cells expressing interleukin‐1β (IL‐1β) were observed in the corona zone. Transforming growth factor β1 (TGFβ1)–expressing mononucleated cells were also identified. The number of CD68+ cells correlated with the number of cells expressing IL‐1β (r = 0.691,P= 0.009) and the number expressing TGFβ1 (r = 0.518,P= 0.04).ConclusionThe tophus represents a complex and organized chronic inflammatory tissue response to monosodium urate monohydrate crystals involving both innate and adaptive immune cells. The coexpression of IL‐1β and TGFβ1 suggests that both proinflammatory and antiinflammatory factors present within the tophus contribute to a cycle of chronic inflammation, attempted resolution, and tissue remodeling.
Control of Dkk‐1 ameliorates chondrocyte apoptosis, cartilage destruction, and subchondral bone deterioration in osteoarthritic knees
Authors: Weng Lin‐Hsiu , Wang Ching‐Jen , Ko Jih‐Yang , Sun Yi‐Chih , Wang Feng‐Sheng 
Published: January 2010

AbstractObjectivePerturbation of Wnt signaling components reportedly regulates chondrocyte fate and joint disorders. The Wnt inhibitor Dkk‐1 mediates remodeling of various tissue types. We undertook this study to examine whether control of Dkk‐1 expression prevents joint deterioration in osteoarthritic (OA) knees.MethodsAnterior cruciate ligament transection–and collagenase‐induced OA in rat knees was treated with end‐capped phosphorothioate Dkk‐1 antisense oligonucleotide (Dkk‐1–AS). Articular cartilage destruction, cartilage degradation markers, bone mineral density (BMD), and subchondral trabecular bone volume of injured knee joints were measured using Mankin scoring, enzyme‐linked immunosorbent assay, dual x‐ray absorptiometry, and histomorphometry. Dkk‐1–responsive molecule expression and apoptotic cells in knee tissue were detected by quantitative reverse transcriptase–polymerase chain reaction, immunoblotting, and TUNEL staining.ResultsUp‐regulated Dkk‐1 expression was associated with increased Mankin score and with increased serum levels of cartilage oligomeric matrix protein and C‐telopeptide of type II collagen (CTX‐II) during OA development. Dkk‐1–AS treatment alleviated OA‐associated increases in Dkk‐1 expression, Mankin score, cartilage fibrillation, and serum cartilage degradation markers. Dkk‐1–AS also alleviated epiphyseal BMD loss and subchondral bone exposure associated with altered serum levels of osteocalcin and CTX‐I. The treatment abrogated chondrocyte/osteoblast apoptosis and subchondral trabecular bone remodeling in OA. Dkk‐1 knockdown increased levels of nuclear β‐catenin and phosphorylated Ser473‐Akt but attenuated expression of inflammatory factors (Toll‐like receptor 4 [TLR‐4], TLR‐9, interleukin‐1β, and tumor necrosis factor α), the apoptosis regulator Bax, matrix metalloproteinase 3, and RANKL in OA knee joints.ConclusionInterference with the cartilage‐ and bone‐deleterious actions of Dkk‐1 provides therapeutic potential for alleviating cartilage destruction and subchondral bone damage in OA knee joints.
Decreased expression of heparin‐binding epidermal growth factor–like growth factor as a newly identified pathogenic mechanism of antiphospholipid‐mediated defective placentation
Authors: Di Simone N. , Marana R. , Castellani R. , Di Nicuolo F. , D'Alessio M. C. , Raschi E. , Borghi M. O. , Chen P. P. , Sanguinetti M. , Caruso A. , Meroni P. L. 
Published: January 2010

AbstractObjectiveHeparin‐binding epidermal growth factor–like growth factor (HB‐EGF) plays a role in blastocyst implantation and is down‐regulated in preeclampsia and in hypertensive pregnancy disorders associated with defective extravillous trophoblast invasion. Defective placentation and severe preeclampsia are also features of the antiphospholipid syndrome (APS). The purpose of this study was to investigate whether abnormal HB‐EGF expression plays a pathogenic role in antiphospholipid antibody (aPL)–mediated defective placentation.MethodsHB‐EGF expression in placental tissue was evaluated by Western blotting and messenger RNA analysis in normal and APS placentae. Polyclonal IgG fractions or monoclonal β2‐glycoprotein I–dependent aPL and their respective controls were investigated for the following 4 features: their binding to human trophoblast monolayers, as determined by cell enzyme‐linked immunosorbent assay (ELISA); their effect on HB‐EGF expression by Western blotting in trophoblast cell extracts as well as by ELISA as a protein secreted in the culture supernatants; their inhibitory effect on in vitro trophoblast invasiveness, as evaluated by Matrigel assay; and their inhibitory effect on matrix metalloproteinase (MMP) levels, as measured by gelatin zymography. Experiments were also performed in the presence of serial concentrations of heparin or recombinant HB‐EGF.ResultsPlacental APS tissue displayed reduced expression of HB‐EGF. Polyclonal and monoclonal aPL bound to trophoblast monolayers and significantly reduced the in vitro synthesis and secretion of HB‐EGF. Heparin inhibited aPL binding and restored HB‐EGF expression in a dose‐dependent manner. Addition of recombinant HB‐EGF reduced the in vitro aPL‐induced inhibition of Matrigel invasiveness as well as MMP‐2 levels.ConclusionThese preliminary findings suggest that the reduction of aPL‐mediated HB‐EGF represents an additional mechanism that is responsible for the defective placentation associated with APS and that heparin protects from aPL‐induced damage by inhibiting antibody binding.
Overexpression of the growth arrest and DNA damage–induced 45α gene contributes to autoimmunity by promoting DNA demethylation in lupus T cells
Authors: Li Yaping , Zhao Ming , Yin Heng , Gao Fei , Wu Xiaoyan , Luo Yongqi , Zhao Sha , Zhang Xiujuan , Su Yuwen , Hu Nan , Long Hai , Richardson Bruce , Lu Qianjin 
Published: January 2010

AbstractObjectiveDemethylation of CD11a and CD70 regulatory regions in CD4+ T cells contributes to the development of autoreactivity and overstimulation of autoantibodies. Because growth arrest and DNA damage–induced 45α (GADD45α) reduces epigenetic silencing of genes by removing methylation marks, this study examined whether the gadd45A gene could contribute to autoimmunity by promoting DNA demethylation in T cells from patients with systemic lupus erythematosus (SLE).MethodsLevels of GADD45α, CD11a, and CD70 messenger RNA (mRNA) and protein were detected by real‐time reverse transcription–polymerase chain reaction and Western blotting or flow cytometry. Global DNA methylation was evaluated using Methylamp global DNA methylation quantification kits. Detection of CD4+ T cell proliferation and autologous B cell IgG antibodies was performed using commercially available kits. CD11a and CD70 promoter methylation was determined with bisulfite sequencing.ResultsElevated gadd45A mRNA expression and global DNA hypomethylation were observed in CD4+ T cells from SLE patients. The levels of gadd45A mRNA were inversely proportional to the levels of DNA methylation. Positive correlations were found between gadd45A and CD11a/CD70 mRNA levels. Expression of gadd45A mRNA was increased in CD4+ T cells following ultraviolet B irradiation, and this was accompanied by increased levels of CD11a and CD70 mRNA. Moreover, increased expression of gadd45A, CD11a, and CD70 mRNA was accompanied by increased autoreactivity and excessive B cell stimulation in gadd45A‐transfected CD4+ T cells. CD11a promoter methylation was also significantly reduced in transfected cells. Transfection of gadd45A small interfering RNA inhibited the autoreactivity of SLE CD4+ T cells and led to significant increases in the methylation levels of the CD11a and CD70 promoter regions.ConclusionThese findings indicate that gadd45A may contribute to lupus‐like autoimmunity by promoting DNA demethylation in SLE CD4+ T cells.
A framework of automatic subject term assignment for text categorization: An indexing conception‐based approach
Authors: Chung EunKyung , Miksa Shawne , Hastings Samantha K. 
Published: January 2010

AbstractThe purpose of this study is to examine whether the understandings of subject‐indexing processes conducted by human indexers have a positive impact on the effectiveness of automatic subject term assignment through text categorization (TC). More specifically, human indexers' subject‐indexing approaches, or conceptions, in conjunction with semantic sources were explored in the context of a typical scientific journal article dataset. Based on the premise that subject indexing approaches or conceptions with semantic sources are important for automatic subject term assignment through TC, this study proposed an indexing conception‐based framework. For the purpose of this study, two research questions were explored: To what extent are semantic sources effective? To what extent are indexing conceptions effective? The experiments were conducted using a Support Vector Machine implementation in WEKA (I.H. Witten & E. Frank, 2000). Using F‐measure, the experiment results showed that cited works, source title, and title were as effective as the full text while a keyword was found more effective than the full text. In addition, the findings showed that an indexing conception‐based framework was more effective than the full text. The content‐oriented and the document‐oriented indexing approaches especially were found more effective than the full text. Among three indexing conception‐based approaches, the content‐oriented approach and the document‐oriented approach were more effective than the domain‐oriented approach. In other words, in the context of a typical scientific journal article dataset, the objective contents and authors' intentions were more desirable for automatic subject term assignment via TC than the possible users' needs. The findings of this study support that incorporation of human indexers' indexing approaches or conception in conjunction with semantic sources has a positive impact on the effectiveness of automatic subject term assignment.
Delayed surgery for acute severe colitis is associated with increased risk of postoperative complications
Authors: Randall J , Singh B , Warren B F , Travis S P L , Mortensen N J , George B D 
Published: January 2010

Abstract

Background
This study determined the long-term outcome after colectomy for acute severe ulcerative colitis (ASUC) and assessed whether the duration of in-hospital medical therapy is related to postoperative outcome.

Methods
All patients who underwent urgent colectomy and ileostomy for ASUC between 1994 and 2000 were identified from a prospective database. Patient details, preoperative therapy and complications to last follow-up were recorded.

Results
Eighty patients were identified, who were treated with intravenous steroids for a median of 6 (range 1–22) days before surgery. Twenty-three (29 per cent) also received intravenous ciclosporin. There were 23 complications in 22 patients in the initial postoperative period. Sixty-eight patients underwent further planned surgery, including restorative ileal pouch–anal anastomosis in 57. During a median follow-up of 5·4 (range 0·5–9·0) years, 48 patients (60 per cent) developed at least one complication. Patients with a major complication at any time during follow-up had a significantly longer duration of medical therapy before colectomy than patients with no major complications (median 8 versus 5 days; P = 0·036).

Conclusion
Delayed surgery for patients with ASUC who do not respond to medical therapy is associated with an increased risk of postoperative complications.
Case–control comparison of profundaplasty and femoropopliteal supragenicular bypass for peripheral arterial disease
Authors: Koscielny A , Pütz U , Willinek W , Hirner A , Mommertz G 
Published: January 2010

Abstract

Background
The aim of this study was to compare preoperative and postoperative findings, and clinical progress in patients with peripheral arterial occlusive disease undergoing femoropopliteal supragenicular bypass or profundaplasty in a case–control study.

Methods
Between January 2001 and June 2004, 171 patients with occlusion of the superficial femoral artery underwent surgery. A retrospective analysis of 28 matched patient pairs was performed. Endpoints were bypass occlusion, surgical revision, amputation and death. Mean length of follow-up was 36 months.

Results
At 3 years after surgery there was no statistically significant difference in outcome between femoropopliteal bypass surgery and profundaplasty. There was a trend towards improved results in patients who had bypass surgery for critical leg ischaemia. Preoperative patency of the crural outflow arteries was an independent prognostic factor in multivariable analysis.

Conclusion
There were no significant outcome differences between supragenicular bypass surgery or profundaplasty in patients who had surgery for intermittent claudication or ischaemic rest pain. Patients with a single patent tibial artery and gangrene or ulceration appeared to benefit more from bypass surgery.
Comparison of radionuclide lymphoscintigraphy and dynamic magnetic resonance lymphangiography for investigating extremity lymphoedema
Authors: Liu N-F , Lu Q , Liu P-A , Wu X-F , Wang B-S 
Published: January 2010

Abstract

Background
Lymphoscintigraphy is widely used to image the lymphatic system. The aim of this study was to compare lymphoscintigraphy and dynamic magnetic resonance lymphangiography (MRL) in the investigation of extremity lymphoedema.

Methods
Sixteen patients with primary extremity lymphoedema and two with Klippel–Trenaunay syndrome with lymphoedema were examined by lymphoscintigraphy using the tracer 99Tc-labelled dextran, and by MRL using gadobenate dimeglumine as contrast agent. Morphological abnormalities and functional state of the lymphatic systems of affected limbs were compared between the two imaging methods.

Results
Lymphatic vessels were imaged in 14 of 18 limbs with lymphoedema using MRL, compared with one of 18 using lymphoscintigraphy. MRL detected the inguinal nodes in 16 of 17 patients, whereas lymphoscintigraphy revealed inguinal nodes in only nine. MRL revealed more precise information about structural and functional abnormalities of lymph vessels and nodes than lymphoscintigraphy by real-time measurement of lymph flow in vessels and nodes.

Conclusion
Dynamic MRL was more sensitive and accurate than lymphoscintigraphy in the detection of anatomical and functional abnormalities in the lymphatic system in patients with extremity lymphoedema.
Open adhesiolysis is more effective in reducing adhesion reformation than laparoscopic adhesiolysis in an experimental model
Authors: Prushik S G , Stucchi A F , Matteotti R , Aarons C B , Reed K L , Gower A C , Becker J M 
Published: January 2010

Abstract

Background
This study compared adhesion reformation after open and laparoscopic adhesiolysis in a rat model.

Methods
Adhesions were induced by surgically creating ischaemic buttons on the peritoneal side wall. After 7 days the animals underwent laparoscopy with carbon dioxide insufflation or laparotomy to score and lyse adhesions. Peritoneal tissue and fluid were collected after 24 h in a subset of animals, and adhesion reformation was scored 7 days after lysis in the remainder. Tissue plasminogen activator (tPA), plasminogen activator inhibitor (PAI) 1, transforming growth factor (TGF) β1 and tumour necrosis factor (TNF) α mRNA, and total fibrinolytic activity were assessed. The abdomen of non-operated animals was insufflated for 7, 15 or 30 min with carbon dioxide, after which tPA and PAI-1 mRNA and total fibrinolytic activity were measured.

Results
Animals that underwent open adhesiolysis had 60 per cent fewer reformed adhesions than the laparoscopic adhesiolysis group (P &lt; 0·001). There were no differences in tPA activity or tPA, PAI-1 and TNF-α mRNA between groups, but TGF-β1 mRNA levels were significantly increased in the open group. Carbon dioxide insufflation did not affect peritoneal tPA activity.

Conclusion
Open adhesiolysis may be more beneficial in minimizing adhesion reformation in the management of adhesion-related complications.