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Ohne Zusammenfassung     

Emergence and scattering of multiple neurofibromatosis (NF1)-related sequences during hominoid evolution suggest a process of pericentromeric interchromosomal transposition

Type 1 neurofibromatosis (NF1) gene encodes for a member of the GTPase activating protein family and is considered to be a tumor suppressor gene. Its very high rate of de novo mutation in humans led us to study a specific feature of this gene: the presence of numerous NF1-related sequences. According to our results, the human genome contains at least 11 NF1-related sequences, nine of which are scattered near centromeric sequences of seven different chromosomes. These NF1-related sequences, whose extent is quite varied according to loci, are unprocessed copies of the NF1 gene, and bear numerous mutations. A phylogenetic analysis of the six largest sequences indicates that they are all derived from a common ancestor, which would have appeared 22-33 million years ago, and was subsequently duplicated several times during hominoid evolution. The most recent duplication and interchromosomal transposition occurred in the last million years suggesting that the process could still be ongoing. Intriguing similarities between the evolution of alpha- satellite DNA and NF1-related sequences suggest the involvement of a common genetic mechanism for the generation and pericentric spreading of these NF1 partial copies.      

Slipped capital femoral epiphysis: rationale for the technique of percutaneous in situ fixation

In pinning a slipped capital femoral epiphysis (SCFE), the position of the pin within the center of the femoral head is important for two reasons. The pin may disrupt the lateral epiphyseal artery and cause avascular necrosis (AVN), or pin penetration in certain locations may go unrecognized on radiographs. To place the pin accurately, the surgeon must be aware of where the femoral head lies in relation to the femoral neck and the shaft. Radiographs of models and of patients in various positions support the view that the femoral head in most cases of chronic SCFE rotates around the axis of the femoral neck and does not slip inferiorly. Therefore, the starting point for an in situ fixation device is the anterior femoral neck, the exact location depending on the amount of slipping.     

Should every patient undergo cardiac catheterization after myocardial infarction?

During the past few decades, management of patients with myocardial infarction has dramatically evolved. High-risk patients are now identified by a variety of noninvasive tests, and aggressive use of reperfusion strategies has improved clinical outcomes. Despite the benefits of reperfusion, only a few patients are eligible to receive thrombolytic therapy. Mortality rates among patients excluded from thrombolytic trials (15% to 20%) have been far greater than those eligible for treatment (3% to 10%). Because most deaths occur within the first few days of infarction, interventions designed to reduce mortality should be performed acutely. Immediate catheterization allows identification of high-risk anatomy that may benefit from surgery and allows coronary angioplasty to be performed as a reperfusion strategy (when appropriate). Furthermore, catheterization allows documentation of ejection fraction, vessel patency, number of diseased vessels, and residual stenosis, all of which have been predictive of prognosis. Conversely, frequently repeated noninvasive diagnostic tests are associated with increased cost, are generally performed in low-risk patients, and 60% to 80% of patients with myocardial infarction ultimately require catheterization anyway. It is possible that early catheterization and percutaneous transluminal coronary angioplasty when indicated may effectively risk stratify patients (eliminating the need for noninvasive testing), may reduce morbidity and mortality, and shorten the length of hospital stay.