bluuebunny/crossref_metadata_2025_split huggingface dataset:
Morphology of the Tibialis Anterior Muscle and Its Implications in Minimally Invasive Plate Osteosynthesis of Tibial Fractures
Authors: Tesch Norbert Peter , Grechenig Wolfgang , Heidari Nima , Pichler Wolfgang , Grechenig Stephan , Weinberg Annelie Martina 
Published: March 2010

We examined the variation in the origin of the tibialis anterior muscle from the lateral aspect of the tibial shaft and interosseous membrane as well as the variation in the morphology of its musculotendinous junction. Forty cadaveric lower leg specimens (20 right and 20 left) were dissected to reveal the anterior compartment. The origin of the tibialis anterior muscle and its relation to the lateral tibial shaft and interosseous membrane were determined. The position of the musculotendinous junction relative to the medial malleolus was also measured. Tibial length ranged from 29.5 to 45 cm (mean, 36.5±3.1 cm). The distal limit of the muscle origin was 5.9 to 20.5 cm (mean, 12.1±3.3 cm) from the tip of the medial malleolus. The distance between the musculotendinous junction and the medial malleolus ranged from 1.4 to 10.8 cm (mean, 6.1±1.9 cm). The attachment of the muscle belly ends between 15.3 and 31.8 cm (mean, 24.4±4.1 cm) distally from the joint line at the knee. There was no statistical correlation between tibial length and muscle morphology.
This variation warrants consideration in the percutaneous insertion of screws in the distal end of long plates, as the neurovascular bundle may be injured in patients with a shorter muscle belly. We advocate an open distal approach to protect the neurovascular bundle during insertion of the plate and distal screws.
Outcome of Infected Total Joint Replacement
Authors: Ritter Merrill A. , Farris Alex 
Published: March 2010

Numerous protocols are used to treat an infected total joint arthroplasty. We evaluated survival outcomes of patients with infected total joint arthroplasties over 35 years to determine if one treatment is more effective than others.
Of 17,561 total joint arthroplasties performed at our facility, 116 (0.66%) were diagnosed with deep infection, 22 of which (18.97%) were hematogenous. Success rates among resection, 1-stage, and 2-stage reimplantation arthroplasty were compared in each joint, as were organism types. After excluding 8 patients (6.9%) who died within 1 year of final treatment and 8 lost to follow-up, 30 hips and 70 knees were studied. Seventeen hips were treated with 2-stage arthroplasty; 70.6% succeeded after the first attempt, and 82.4% succeeded after the second. Fifty-one 2-stage knees had 54.9% success after the first attempt and 66.7% success after the second. Five of 5 hips treated with 1-stage arthroplasty succeeded after the first attempt, while 1 of 3 one-stage knees succeeded after the first attempt; none of these 8 joints had a hematogenous infection. No joints requiring a third treatment were successful after the third attempt. There were no differences in survival between different bacteria.
Treatment of deep prosthetic joint infection is difficult once the first attempt has failed and becomes more so after failure of the second attempt. Two-stage arthroplasty provides good results in most cases (82% in hips, 67% in knees), but a third attempt does not increase these percentages. The organism type does not significantly affect success in infected joint treatment.
Non-drainage Is Better Than 4-Hour Clamping Drainage in Total Knee Arthroplasty
Authors: Tai Ta-Wei , Jou I-Ming , Chang Chih-Wei , Lai Kuo-An , Lin Chii-Jeng , Yang Chyun-Yu 
Published: March 2010

The role of wound drainage in total knee arthroplasty (TKA) is controversial. The use of drainage was believed to be effective in decreasing hematoma formation, but it inevitably increases bleeding because the tamponade effect of a closed and undrained wound is eliminated. Clamping the drain tube in the first 4 hours after TKA can temporarily recreate a tamponade effect for bleeding control. Previous studies compared the clamping drainage with the conventional drainage method but not with non-drainage. Some current studies have shown that drainage in TKA is not necessary. Thus, we conducted a study to compare the outcomes between the patients with temporarily clamping drainage and without drainage.
One hundred consecutive patients undergoing primary TKA were included. Change of hemoglobin, blood transfusion, use of narcotics, postoperative wound dressing, length of hospital stay, and range of motion were recorded. The drain-clamping group demonstrated more postoperative hemoglobin loss and a longer hospital stay, and gained no benefit compared with the non-drain group. Therefore, we concluded that despite clamping for 4 hours after TKA, the drain was still of no use. We would not recommend using a draining system routinely after TKA.
Hip Resurfacing as Treatment for Synovial Chondromatosis
Authors: Ligato April , Nelson Scott , Bengs Benjamin C. 
Published: March 2010

Synovial chondromatosis is a rare condition of metaplastic cartilage development in the synovial membrane of joints. These foci can form free bodies and lead to mechanical arthrosis. The precise etiology is unknown. All synovial joints can be affected, with the hip and knee being most common. Patients with synovial chondromatosis are usually in their fifth decade and typically present with mechanical pain and diffuse swelling. Due to its rarity and nonspecific manifestations, diagnosis of synovial chondromatosis is often delayed until significant mechanical damage and arthrosis has occurred.
Controversy exists regarding surgical treatment of synovial chondromatosis, especially with regard to the hip. Localized disease can be treated with resection of affected synovium (possibly arthroscopically), whereas patients with generalized disease require complete, open synovectomy. With articular damage, total hip replacement has been advocated along with synovectomy.
This article presents a case of a young man with painful hip synovial chondromatosis who was successfully treated with hip resurfacing and synovectomy after failed hip arthroscopy. Hip resurfacing provides the surgeon with the opportunity to address not only local or generalized synovial disease, but articular damage as well. Furthermore, its bone-preserving properties make this option attractive in the management of this younger patient population. We feel resurfacing has a role in the surgical treatment of synovial chondromatosis. To our knowledge, this is the first case of hip resurfacing arthroplasty for the definitive treatment of synovial chondromatosis.
Arthroscopically Assisted Two-stage Cementation Technique for a Periarticular Knee Lesion
Authors: Christoforou Dimitrios , Golant Alexander , Ort Paul J. 
Published: March 2010

Managing skeletal metastatic disease can be a challenging task for the orthopedic surgeon. In patients who have poor survival prognoses or are poor candidates for extensive reconstructive procedures, management with intralesional curettage and stabilization with bone cement with or without internal fixation to prevent development or propagation of a pathologic fracture may be the best option. The use of bone cement is preferable over the use of bone graft, as it allows for immediate postoperative weight bearing on the affected extremity.This article describes a case where the combined use of arthroscopy and a 2-stage cementation technique may allow preservation of the articular surface and optimization of short-term functional outcome after curettage of a periarticular metastatic lesion in a patient with an end-stage malignancy. We used knee arthroscopy to identify any articular penetration or intra-articular loose bodies after curettage and initial cementation of the periarticular lesion of the distal femur. Arthroscopic evaluation was carried out again after the lesion was packed with cement to identify and remove any loose intra-articular debris. The applicability of this technique is broad, and it can be used in any procedure involving cement packing in a periarticular location. Performed with caution, this technique can be a useful adjunct to surgical management of both malignant and locally aggressive benign bone lesions in periarticular locations.
Plasma‐Assisted Approaches in Inorganic Nanostructure Fabrication
Authors: Zheng Jie , Yang Rong , Xie Lei , Qu Jianglan , Liu Yang , Li Xingguo 
Published: March 2010

AbstractPlasma is a unique medium for chemical reactions and materials preparations, which also finds its application in the current tide of nanostructure fabrication. Although plasma‐assisted approaches have been long used in thin‐film deposition and the top‐down scheme of micro‐/nanofabrication, fabrication of zero‐ and one‐dimensional inorganic nanostructures through the bottom‐up scheme is a relatively new focus of plasma application. In this article, recent plasma‐assisted techniques in inorganic zero‐ and one‐dimensional nanostructure fabrication are reviewed, which includes four categories of plasma‐assisted approaches: plasma‐enhanced chemical vapor deposition, thermal plasma sintering with liquid/solid feeding, thermal plasma evaporation and condensation, and plasma treatment of solids. The special effects and the advantages of plasmas on nanostructure fabrication are illustrated with examples, emphasizing on the understandings and ideas for controlling the growth, structure, and properties during plasma‐assisted fabrications. This Review provides insight into the utilization of the special properties of plasmas in nanostructure fabrication.
Formate‐Based Magnetic Metal–Organic Frameworks Templated by Protonated Amines
Authors: Wang Zheming , Hu Keli , Gao Song , Kobayashi Hayao 
Published: March 2010

AbstractA systematic study has been carried out on the 3d divalent metal formate 3D magnetic frameworks templated by protonated amines, and the achievements have revealed that metal formate frameworks are very malleable, and their structures depend on the size, shape, charge, and hydrogen bonding geometries of the templating cations. Six kinds of metal formate frameworks have been created. They are chiral frameworks with a (49 · 66) topology, perovskite ones with a (412 · 63) topology, bi‐nodal frameworks of (412 · 63)(49 · 66)n (n = 1, 2, 3) topologies, and porous diamond frameworks with 66 topology. These materials display promising and abundant magnetic, dielectric, porous, and optical properties and the possible combination of them. Therefore, they are of great interest for the study of molecule‐based materials. It has been demonstrated that formate, being the smallest and simplest carboxylate, cheap and with low toxicity, thus more biocompatible and environmentally friendly, and having been more or less ignored, will find an important role in the construction of molecule‐based materials and provide new materials with interesting properties.
Type IX collagen gene mutations can result in multiple epiphyseal dysplasia that is associated with osteochondritis dissecans and a mild myopathy
Authors: Jackson Gail C. , Marcus‐Soekarman Dominique , Stolte‐Dijkstra Irene , Verrips Aad , Taylor Jacqueline A. , Briggs Michael D. 
Published: March 2010

AbstractMultiple epiphyseal dysplasia (MED) is a clinically variable and genetically heterogeneous disease that is characterized by mild short stature and early onset osteoarthritis. Autosomal dominant forms are caused by mutations in the genes that encode type IX collagen, cartilage oligomeric matrix protein, and matrilin‐3: COL9A1, COL9A2, COL9A3, COMP, and MATN3, respectively. Splicing mutations have been identified in all three genes encoding type IX collagen and are restricted to specific exons encoding an equivalent region of the COL3 domain in all three α(IX) chains. MED has been associated with mild myopathy in some families, in particular one family with a COL9A3 mutation and two families with C‐terminal COMP mutations. In this study we have identified COL9A2 mutations in two families with MED that also have osteochondritis dissecans and mild myopathy. This study therefore extends the range of gene‐mutations that can cause MED‐related myopathy. © 2010 Wiley‐Liss, Inc.
Periventricular nodular heterotopia and distal limb deficiency: A recurrent association
Authors: de Wit Marie Claire Y. , de Coo Irenaeus F.M. , Schot Rachel , Hoogeboom A. Jeannette M. , Lequin Maarten H. , Verkerk Annemieke J.M.H. , Mancini Grazia M.S. 
Published: March 2010

AbstractMalformations of cerebral cortical development, in particular periventricular nodular heterotopia (PNH), and distal transverse limb deficiency have been reported as associated congenital anomalies. Patients with PNH and transverse limb deficiency can be classified as having amniotic band sequence or Adams–Oliver syndrome (AOS). Controversy exists whether these should be considered separate entities. In some AOS patients, autosomal recessive inheritance has been shown, but in most patients causes are unknown, and both environmental and genetic factors have been implicated. We present three patients with PNH and distal transverse limb deficiency to support the hypothesis that these should be considered part of one group of disorders, and highlight the variable severity of the clinical and neuroradiological phenotype. Chromosome abnormalities were excluded by copy number analysis on 250K SNP microarray data.Research done on limb deficiency as on PNH caused by mutations in known genes, suggests the involvement of vascular developmental pathways. The combination of limb deficiency and PNH may have a common causative mechanism. Recognition and grouping of patients with this combination of abnormalities will help elucidating the cause. © 2010 Wiley‐Liss, Inc.
A recurrence of a hydrop lethal skeletal dysplasia showing similarity to Desbuquois dysplasia and a proposed new sign: The Upsilon sign
Authors: Baynam Gareth , Kiraly‐Borri Cathy , Goldblatt Jack , Dickinson Jan E. , Jevon Gareth P. , Overkov Angela 
Published: March 2010

AbstractWe report on a recurrence of a lethal skeletal dysplasia with features similar to Desbuquois dysplasia (DD) to expand the phenotypic spectrum of DD‐like conditions, to increase awareness of DD‐like phenotypes in the differential diagnosis of prenatal onset skeletal dysplasias, and to suggest a new sign, the Upsilon sign, to aid in the differential diagnosis of skeletal dysplasias with an extra ossification centre distal to second metacarpal. © 2010 Wiley‐Liss, Inc.
Three novel mutations in the ANK membrane protein cause craniometaphyseal dysplasia with variable conductive hearing loss
Authors: Kornak Uwe , Brancati Francesco , Le Merrer Martine , Lichtenbelt Klaske , Höhne Wolfgang , Tinschert Sigrid , Garaci Francesco Giuseppe , Dallapiccola Bruno , Nürnberg Peter 
Published: March 2010

AbstractCraniometaphyseal dysplasia (CMD) is a rare, sclerosing skeletal disorder caused by mutations in ANKH, which encodes a putative pyrophosphate transporting membrane protein. Six distinct ANKH mutations have been described to date. We report here on three novel mutations in simplex patients with CMD. The c.1015T>C (p.Cys339Arg) mutation found in Patient A was associated with congenital facial palsy, early‐onset conductive hearing loss, and a generalized undermodeling of the long bones. The c.1172T>C (p.Leu391Pro) mutation in Patient B was associated with facial palsy, progressive conductive hearing loss, and generalized undermodeling of tubular bones. A milder phenotype without cranial nerve affection was observed in Patient C, associated with a c.1001T>G (p.Leu334Arg) mutation. All affected residues lie in evolutionarily conserved sequence blocks. These additional cases and the associated mutations contribute to an improved appreciation of the variability of this rare skeletal dysplasia. © 2010 Wiley‐Liss, Inc.
A second patient with Tsukahara syndrome: Type A1 brachydactyly, short stature, hearing loss, microcephaly, mental retardation and ptosis
Authors: Utine Gülen Eda , Breckpot Jeroen , Thienpont Bernard , Alanay Yasemin , Aksoy Cemalettin , Boduroğlu Koray , Devriendt Koenraad 
Published: March 2010

AbstractIn 1989, Tsukahara and colleagues described a single female with a provisionally unique pattern of malformation consisting of low intelligence, short stature, brachydactyly type A1, and characteristic facial features. We report on a second patient confirming Tsukahara syndrome as an established entity. © 2010 Wiley‐Liss, Inc.
Additional clinical and molecular analyses of TFAP2A in patients with the branchio‐oculo‐facial syndrome
Authors: Reiber Judith , Sznajer Yves , Posteguillo Elena Guillén , Müller Dietmar , Lyonnet Stanislas , Baumann Clarisse , Just Walter 
Published: March 2010

AbstractThe branchio‐oculo‐facial syndrome (BOFS) is a rare disorder with approximately 50 sporadic and familial cases in the literature. We report on the clinical and molecular analyses of five additional patients with BOFS (two familial and three sporadic). DNA analysis of the TFAP2A gene associated with BOFS using DNA sequencing detected a mutation [c.763A>G (p.Arg255Gly)] in two unrelated patients. This mutation had been reported in another patient and indicates a probable mutational hotspot in the TFAP2A gene. We also detected three new mutations which are restricted to exons 4–6. These gene regions are almost free of any single nucleotide polymorphisms. An evolutionary sequence comparison showed a high degree of sequence conservation from humans to the honey bee (Apis mellifera) in exon 6 showing that this part of the protein is probably essential. Our study represents the second group of BOFS patients with molecular confirmation, expanding the phenotype and spectrum of mutations and limiting it to a restricted part of the gene. © 2010 Wiley‐Liss, Inc.
Clinical variability of familial tumoral calcinosis caused by novel GALNT3 mutations
Authors: Ichikawa Shoji , Baujat Geneviève , Seyahi Aksel , Garoufali Anastasia G. , Imel Erik A. , Padgett Leah R. , Austin Anthony M. , Sorenson Andrea H. , Pejin Zagorka , Topouchian Vicken , Quartier Pierre , Cormier‐Daire Valerie , Dechaux Michele , Malandrinou Fotini Ch. , Singhellakis Panagiotis N. , Le Merrer Martine , Econs Michael J. 
Published: March 2010

AbstractThe GALNT3 gene encodes GalNAc‐T3, which prevents degradation of the phosphaturic hormone, fibroblast growth factor 23 (FGF23). Biallelic mutations in either GALNT3 or FGF23 result in hyperphosphatemic familial tumoral calcinosis or its variant, hyperostosis–hyperphosphatemia syndrome. Tumoral calcinosis is characterized by the presence of ectopic calcifications around major joints, whereas hyperostosis–hyperphosphatemia syndrome is characterized by recurrent long bone lesions with hyperostosis. Here we investigated four patients with hyperphosphatemia and clinical manifestations including tumoral calcinosis and/or hyperostosis–hyperphosphatemia syndrome to determine underlying genetic cause and delineate phenotypic heterogeneity of these disorders. Mutational analysis of FGF23 and GALNT3 in these patients revealed novel homozygous mutations in GALNT3. Although the presence of massive calcifications, cortical hyperostosis, or dental anomalies was not shared by all patients, all had persistent hyperphosphatemia. Three of the patients also had inappropriately normal 1,25‐dihyroxyvitamin D [1,25(OH)2D] and confirmed low circulating intact FGF23 concentrations. The four novel GALNT3 mutations invariably resulted in hyperphosphatemia as a result of low intact FGF23, but other clinical manifestations were variable. Therefore, tumoral calcinosis and hyperostosis–hyperphosphatemia syndrome represent a continuous spectrum of the same disease caused by increased phosphate levels, rather than two distinct disorders. © 2010 Wiley‐Liss, Inc.
A tale of two deletions: A report of two novel 20p13 → pter deletions
Authors: McGill Anna K. , Pastore Matthew T. , Herman Gail E. , Alliman Sarah , Rosenfeld Jill A. , Weaver David D. 
Published: March 2010

AbstractWe report on two patients with 1.7 and 1.2 Mb terminal 20p deletions, which have apparently not been reported previously. Both individuals exhibit certain similar features including large fontanelles, ear abnormalities, and seizures. However, even though the deletions are of similar size, there were many disparate features between the two. The deletions in each patient encompass at least 28 genes that may provide useful candidates for ear development and cranial ossification. © 2010 Wiley‐Liss, Inc.
Molecular and functional analysis of a novel MEK2 mutation in cardio‐facio‐cutaneous syndrome: Transmission through four generations
Authors: Rauen Katherine A. , Tidyman William E. , Estep Anne L. , Sampath Srirangan , Peltier Henry M. , Bale Sherri J. , Lacassie Yves 
Published: March 2010

AbstractCardio‐facio‐cutaneous (CFC) syndrome is one of the RASopathies and is caused by alteration of activity through the Ras/mitogen‐activated protein kinase (MAPK) pathway due to heterozygous de novo mutations in protein kinases BRAF, MEK1, or MEK2. CFC is a rare multiple congenital anomaly disorder in which individuals have characteristic dysmorphic features, cardiac defects, ectodermal anomalies and developmental delay. We report a $7{\raise0.5ex\hbox{$\scriptstyle 1$}\kern-0.1em/\kern-0.15em\lower0.25ex\hbox{$\scriptstyle 2$}}$‐month‐old boy with a clinical diagnosis of CFC. Bidirectional sequence analysis of MEK2 revealed a novel c.383C → A transversion in exon 3 resulting in a nonsynonymous missense substitution, p.P128Q. Other family members, including the proband's mother and half‐sibling, displayed phenotypic features of CFC and were also screened for the MEK2 mutation identified in the proband. Sorting Intolerant From Tolerant (SIFT) analysis determined the novel MEK2 p.P128Q to be deleterious. To corroborate the functional alteration of the novel mutant protein, transient transfection of HEK 293T cells with subsequent Western analysis was used to demonstrate increased kinase activity, as measured by ERK phosphorylation. This first reported case of a vertically transmitted functional CFC MEK mutation further expands our understanding of germline mutations within the Ras/MAPK pathway. © 2010 Wiley‐Liss, Inc.
Mutations and variants in the cohesion factor genes NIPBL, SMC1A, and SMC3 in a cohort of 30 unrelated patients with Cornelia de Lange syndrome
Authors: Pié Juan , Gil‐Rodríguez María Concepción , Ciero Milagros , López‐Viñas Eduardo , Ribate María Pilar , Arnedo María , Deardorff Matthew A. , Puisac Beatriz , Legarreta Jesús , de Karam Juan Carlos , Rubio Encarnación , Bueno Inés , Baldellou Antonio , Calvo Mª Teresa , Casals Nuria , Olivares José Luis , Losada Ana , Hegardt Fausto G. , Krantz Ian D. , Gómez‐Puertas Paulino , Ramos Feliciano J. 
Published: March 2010

AbstractCornelia de Lange syndrome (CdLS) manifests facial dysmorphic features, growth and cognitive impairment, and limb malformations. Mutations in three genes (NIPBL, SMC1A, and SMC3) of the cohesin complex and its regulators have been found in affected patients. Here, we present clinical and molecular characterization of 30 unrelated patients with CdLS. Eleven patients had mutations in NIPBL (37%) and three patients had mutations in SMC1A (10%), giving an overall rate of mutations of 47%. Several patients shared the same mutation in NIPBL (p.R827GfsX2) but had variable phenotypes, indicating the influence of modifiers in CdLS. Patients with NIPBL mutations had a more severe phenotype than those with mutations in SMC1A or those without identified mutations. However, a high incidence of palate defects was noted in patients with SMC1A mutations. In addition, we observed a similar phenotype in both male and female patients with SMC1A mutations. Finally, we report the first patient with an SMC1A mutation and the Sandifer complex. © 2010 Wiley‐Liss, Inc.