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1.
Am J Case Rep ; 23: e938414, 2022 Nov 23.
Article in English | MEDLINE | ID: mdl-36417322

ABSTRACT

BACKGROUND Osteogensis imperfecta (OI) is a rare disorder associated with brittle bones, skeletal deformities, short stature, and conductive hearing loss. It is caused by mutations in genes encoding collagen type I production and is associated with multiple fractures occurring during a patient's lifetime. Atypical fractures can occur without a history of previous injury or diagnosis. CASE REPORT A 52-year old man sustained a fall from his own height. He experienced pelvic pain but could bear weight. He was referred to the hospital by his primary care physician and was admitted to the Orthopedic Department with a pelvic ring fracture. We performed open reduction and internal fixation with a reconstruction plate via an intrapelvic approach. At 12 weeks after discharge, he sustained a peritrochanteric fracture. It was surgically treated with a dynamic hip screw. The patient commenced weight-bearing 20 weeks after the initial procedure. Bone union was achieved clinically and radiographically. He did not have any revision procedures. At the time of this report, 5 years after the described period, he felt no discomfort around the hips, sacroiliac joints, and pubic symphysis. CONCLUSIONS OI poses a difficult treatment challenge, but, achieving a good clinical and functional result is possible with a precise surgical technique and meticulous preoperative planning. Clinicians should always consider the possibility of a simultaneous fracture occurrence in different parts of the body. Some patients present without a previous diagnosis, and we should always have some suspicion of OI in cases of young patients presenting with low-energy fractures.


Subject(s)
Fractures, Bone , Osteogenesis Imperfecta , Pelvic Bones , Male , Humans , Middle Aged , Osteogenesis Imperfecta/complications , Osteogenesis Imperfecta/surgery , Follow-Up Studies , Fractures, Bone/etiology , Fractures, Bone/surgery , Pelvic Bones/injuries , Pelvic Bones/surgery , Fracture Fixation, Internal/methods
2.
Nucleic Acids Res ; 41(Database issue): D268-72, 2013 Jan.
Article in English | MEDLINE | ID: mdl-23155061

ABSTRACT

Many RNA molecules undergo complex maturation, involving e.g. excision from primary transcripts, removal of introns, post-transcriptional modification and polyadenylation. The level of mature, functional RNAs in the cell is controlled not only by the synthesis and maturation but also by degradation, which proceeds via many different routes. The systematization of data about RNA metabolic pathways and enzymes taking part in RNA maturation and degradation is essential for the full understanding of these processes. RNApathwaysDB, available online at http://iimcb.genesilico.pl/rnapathwaysdb, is an online resource about maturation and decay pathways involving RNA as the substrate. The current release presents information about reactions and enzymes that take part in the maturation and degradation of tRNA, rRNA and mRNA, and describes pathways in three model organisms: Escherichia coli, Saccharomyces cerevisiae and Homo sapiens. RNApathwaysDB can be queried with keywords, and sequences of protein enzymes involved in RNA processing can be searched with BLAST. Options for data presentation include pathway graphs and tables with enzymes and literature data. Structures of macromolecular complexes involving RNA and proteins that act on it are presented as 'potato models' using DrawBioPath-a new javascript tool.


Subject(s)
Databases, Nucleic Acid , RNA Processing, Post-Transcriptional , RNA Stability , RNA/metabolism , Enzymes/chemistry , Enzymes/metabolism , Escherichia coli/genetics , Escherichia coli/metabolism , Humans , Internet , RNA, Messenger/metabolism , RNA, Ribosomal/metabolism , RNA, Transfer/metabolism , Saccharomyces cerevisiae/genetics , Saccharomyces cerevisiae/metabolism
3.
RNA ; 18(4): 610-25, 2012 Apr.
Article in English | MEDLINE | ID: mdl-22361291

ABSTRACT

We report the results of a first, collective, blind experiment in RNA three-dimensional (3D) structure prediction, encompassing three prediction puzzles. The goals are to assess the leading edge of RNA structure prediction techniques; compare existing methods and tools; and evaluate their relative strengths, weaknesses, and limitations in terms of sequence length and structural complexity. The results should give potential users insight into the suitability of available methods for different applications and facilitate efforts in the RNA structure prediction community in ongoing efforts to improve prediction tools. We also report the creation of an automated evaluation pipeline to facilitate the analysis of future RNA structure prediction exercises.


Subject(s)
Nucleic Acid Conformation , RNA/chemistry , Base Sequence , Dimerization , Models, Molecular , Molecular Sequence Data
4.
Chir Narzadow Ruchu Ortop Pol ; 71(3): 227-9, 2006.
Article in Polish | MEDLINE | ID: mdl-17131731

ABSTRACT

The nonunion of the lateral humeral condyle is the most important complication in course of the treatment of the fractures lateral humeral condyle. The cause of the occurrence is the articular liquid penetration to the fracture site, minor blood supply of the fractured fragment based only on the vessels penetrating from the metaphysis, insufficient immobilization period and fragment relocation. The operative treatment of a condyle nonunion previously was performed cautiously because of the high risk of the condyle necrosis and the mild nature of the deformity. The elbow with nonunion condyle is usefull and satisfactory even after bringing increasing valgus deformity and a high risk of the ulnar nerve neuropathy into consideration. A 7-YEAR-old boy with a condyle nonunion was treated operationaly. Operative procedure shouldn,t be prolonged for more than a year after the trauma because of the increased deformity and condyle remodelling. A Tahdjian technique was used. The operation focused on an intraarticular approach with an olecranon ostotomy for the avoidance of the vessels penetrating from the condyle metaphysis. After debridgement and cortical grafts filling of the nonunion site a Kirschner fixation combined with olecranon wire loop fixation were performed. Satisfactory results were achieved in a form of fragments union within six weeks of the surgery and the total range of motion of the elbow joint within 6 months of the operation. During the treatment no signs of the neurovascular complications were observed.


Subject(s)
Fractures, Ununited/surgery , Humeral Fractures/surgery , Humerus/surgery , Bone Wires , Child , Elbow Joint/physiopathology , Fracture Fixation, Internal , Fracture Healing , Humans , Humeral Fractures/diagnostic imaging , Humeral Fractures/physiopathology , Humerus/injuries , Male , Radiography , Range of Motion, Articular/physiology , Treatment Outcome
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