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  • Puckett posted an update 7 months, 1 week ago

    Equity of provision and access to breast reconstruction was distributed evenly within Europe, with geographic regions potentially affecting the type of reconstruction offered. Standard practices with regard to radiotherapy differed between countries and a clear demand for European guidelines on breast reconstruction was reported.

     This study identified distinct lack of consistency in international practice patterns across European countries and a strong demand for consistent European guidance. Large-scale and multi-centre European clinical trials are required to further elucidate the presented areas of interest and to define European standard operating procedures.

     This study identified distinct lack of consistency in international practice patterns across European countries and a strong demand for consistent European guidance. Large-scale and multi-centre European clinical trials are required to further elucidate the presented areas of interest and to define European standard operating procedures.Within the last decade, continuous advances in molecular biological techniques have made it possible to develop causative therapies for inherited retinal disorders (IRDs). Some of the most promising options are gene-specific approaches using adeno-associated virus-based vectors to express a healthy copy of the disease-causing gene in affected cells of a patient. Verteporfin concentration This concept of gene supplementation therapy is already advocated for the treatment of retinal dystrophy in RPE65-linked Leber’s congenital amaurosis (LCA) patients. While the concept of gene supplementation therapy can be applied to treat autosomal recessive and X-linked forms of IRD, it is not sufficient for autosomal dominant IRDs, where the pathogenic gene product needs to be removed. Therefore, for autosomal dominant IRDs, alternative approaches that utilize CRISPR/Cas9 or antisense oligonucleotides to edit or deplete the mutant allele or gene product are needed. In recent years, research retinal gene therapy has intensified and promising approaches for various forms of IRD are currently in preclinical and clinical development. This review article provides an overview of current clinical trials for the treatment of IRDs.Over the past decade, novel high-throughput DNA sequencing technologies have revolutionised both research and diagnostic testing for monogenic disorders. This applies particularly to genetically very heterogeneous disorders like retinal dystrophies (RDs). Next-generation sequencing (NGS) today is considered as reliable as Sanger sequencing, which had been the gold standard for decades. Today, comprehensive NGS-based diagnostic testing reveals the causative mutations in the majority of RD patients, with important implications for genetic counselling for recurrence risks and personalised medical management (from interdisciplinary surveillance to prophylactic measures and, albeit yet rare, [gene] therapy). While DNA sequencing is – in most cases – no longer the diagnostic bottleneck, one needs to be aware of interpretation pitfalls and dead ends. The advent of new (NGS) technologies will solve some of these issues. However, specialised medical geneticists who are familiar with the peculiarities of certain RD genes and closely interact with ophthalmologists will remain key to successful RD research and diagnostic testing for the benefit of the patients. This review sheds light on the current state of the field, its challenges and potential solutions.Inherited retinal diseases are a frequent cause of severe visual impairment or blindness in children and adults of working age. Across this group of diseases, there is great variability in the degree of visual impairment, the impact on everyday life, disease progression, and the suitability to therapeutic intervention. Therefore, an early and precise diagnosis is crucial for patients and their families. Characterizing inherited retinal diseases involves a detailed medical history, clinical examination with testing of visual function, multimodal retinal imaging as well as molecular genetic testing. This may facilitate a distinction between different inherited retinal diseases, as well as a differentiation from monogenic systemic diseases with retinal involvement, and from mimicking diseases.Although most studies have introduced risk factors related to anterior cruciate ligament reconstruction failure, studies on combinations of high-risk factors are rare. To provide a systematic review of the risk factors of anterior cruciate ligament reconstruction failure to guide surgeons through the decision-making process, an extensive literature search was performed of the Medline, Embase and Cochrane Library databases. Studies published between January 1, 2009, and September 19, 2019, regarding the existing evidence for risk factors of anterior cruciate ligament reconstruction failure or graft failure were included in this review. Study quality was evaluated with the quality index. Ultimately, 66 articles met our criteria. There were 46 cases classified as technical factors, 21 cases as patient-related risk factors, and 14 cases as status of the knee joint. Quality assessment scores ranged from 14 to 24. This systematic review provides a comprehensive summary of the risk factors for anterior cruciate ligament reconstruction failure, including technical factors, patient-related factors, and the factors associated with the status of the knee joint. Emphasis should be placed on avoiding these high-risk combinations or correcting modifiable risk factors during preoperative planning to reduce the rate of graft rupture and anterior cruciate ligament reconstruction failure.The Achilles tendon stores and releases strain energy, influencing running economy. The present study aims to verify the influence of the Achilles tendon tangent modulus, as a material property, on running economy by comparing two groups of elite endurance-performance athletes undergoing different running training volumes. Twelve athletes, six long-distance runners and six pentathletes, were studied. Long-distance runners had a higher weekly running training volume (116.7±13.7 vs. 58.3±20.4 km, p0.05). Achilles tendon tangent modulus was estimated from ultrasound-measured deformations, with the ankle passively mobilized by a dynamometer. True stress was calculated from the measured torque. The long-distance runners had a higher maximum tangent modulus (380.6±92.2 vs. 236.2±82.6 MPa, p less then 0.05) and maximum true stress than pentathletes (24.2±5.1 vs. 16.0±3.5 MPa, p less then 0.05). The correlation coefficient between tangent modulus at larger deformations was R=-0.7447 (p less then 0.05). Quantifying tendon tissue adaptations associated with different running training volumes will support subject and modality-specific workouts prescription of elite endurance athletes.

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