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Arthroscopy : the Journal of... Jan 2024Patellar tendinopathy is a common pathology typically seen in athletes involved in repetitive explosive jumping and running activities. Also known as jumpers' knee, it...
Patellar tendinopathy is a common pathology typically seen in athletes involved in repetitive explosive jumping and running activities. Also known as jumpers' knee, it is commonly seen in high-level basketball players. Typically, athletes continue to play with symptoms, which can be aggravated and progress to partial patellar tendon tears. When partial patellar tendon tears occur, prolonged recovery and decreased performance is commonly seen. The pathology and treatment can be frustrating for both the athlete and medical provider. Patellar tendinopathy typically does not involve inflammation but rather microinjury to the tendon fibers, which leads to mucoid degeneration, necrosis, and loss of transitional fibrocartilage. When partial tendon tears do occur, the typical location is posteromedially adjacent to the patella. Treatment involves a stepwise approach starting with nonoperative means, including activity modification, nonsteroidal anti-inflammatories, and physical therapy focused on eccentrics. Extracorporeal shock wave treatments and injections with platelet-rich plasma or bone marrow aspirate concentrate should be considered, with evolving literature to support their use. Ultrasound percutaneous tendon scrapping with a needle supplemented with the aforementioned injections is an emerging treatment option that the authors have found to be helpful, although further studies are required. Surgical intervention is considered after failure of nonoperative treatments, and typically occurs in tears greater than 50% of the tendon thickness and in tendons with increased thickness (>8.8 mm). Open or arthroscopic debridement can be considered, with no studies showing superior outcomes with either technique; however, no high-quality comparison studies exist. The authors prefer an open technique where, much like a bone-patellar tendon-bone harvest, the unhealthy proximal tendon and bone are excised with then closure of the healthy tendon with absorbable sutures. Suture anchor repair may also be used when necessary. In a recent systematic review, surgical management of patellar tendinopathy has been shown to result in improved patient-reported outcomes with return to sport at high levels. Treatment for the difficult and sometimes frustrating pathology of patellar tendinopathy continues to evolve, with biologic and less-invasive ultrasound-based treatments showing promise, and surgical intervention providing reliable outcomes.
Topics: Humans; Patella; Tendinopathy; Tendons; Patellar Ligament; Basketball
PubMed: 38123261
DOI: 10.1016/j.arthro.2023.09.004 -
Cureus Oct 2023We report on the case of a 52-year-old male who sustained a transverse patellar fracture after tripping on uneven pavement. These fractures can be easy to miss on...
We report on the case of a 52-year-old male who sustained a transverse patellar fracture after tripping on uneven pavement. These fractures can be easy to miss on anteroposterior views, highlighting the importance of multiple radiographic views of the knee. Examination of the knee is also important, as initial clinical appearance can be benign. These fractures are most often seen in adolescents, which makes the current case somewhat unusual.
PubMed: 38022054
DOI: 10.7759/cureus.46695 -
Nucleic Acids Research Oct 2023Faithful cell division is the basis for the propagation of life and DNA replication must be precisely regulated. DNA replication stress is a prominent endogenous source...
Faithful cell division is the basis for the propagation of life and DNA replication must be precisely regulated. DNA replication stress is a prominent endogenous source of genome instability that not only leads to ageing, but also neuropathology and cancer development in humans. Specifically, the issues of how vertebrate cells select and activate origins of replication are of importance as, for example, insufficient origin firing leads to genomic instability and mutations in replication initiation factors lead to the rare human disease Meier-Gorlin syndrome. The mechanism of origin activation has been well characterised and reconstituted in yeast, however, an equal understanding of this process in higher eukaryotes is lacking. The firing of replication origins is driven by S-phase kinases (CDKs and DDK) and results in the activation of the replicative helicase and generation of two bi-directional replication forks. Our data, generated from cell-free Xenopus laevis egg extracts, show that DONSON is required for assembly of the active replicative helicase (CMG complex) at origins during replication initiation. DONSON has previously been shown to be essential during DNA replication, both in human cells and in Drosophila, but the mechanism of DONSON's action was unknown. Here we show that DONSON's presence is essential for replication initiation as it is required for Cdc45 and GINS association with Mcm2-7 complexes and helicase activation. To fulfil this role, DONSON interacts with the initiation factor, TopBP1, in a CDK-dependent manner. Following its initiation role, DONSON also forms a part of the replisome during the elongation stage of DNA replication. Mutations in DONSON have recently been shown to lead to the Meier-Gorlin syndrome; this novel replication initiation role of DONSON therefore provides the explanation for the phenotypes caused by DONSON mutations in patients.
Topics: Humans; Cell Cycle Proteins; Chromatin; Congenital Microtia; Cyclin-Dependent Kinases; DNA Replication; Growth Disorders; Micrognathism; Minichromosome Maintenance Proteins; Patella; Replication Origin; Saccharomyces cerevisiae; Saccharomyces cerevisiae Proteins
PubMed: 37638758
DOI: 10.1093/nar/gkad694 -
Actas Dermo-sifiliograficas Apr 2024Nail disorders in newborns can show independently or as components of systemic illnesses or genodermatoses. The examination of these abnormalities is complex and... (Review)
Review
Nail disorders in newborns can show independently or as components of systemic illnesses or genodermatoses. The examination of these abnormalities is complex and sometimes challenging. However, familiarity with these disorders can significantly contribute to uncovering potential underlying conditions. This review includes the physiological nail changes seen within the first few months of life, such as Beau's lines, onychoschizia, koilonychia, congenital nail fold hypertrophy of the first digit, and onychocryptosis. This review also focuses on the most relevant congenital disorders reported and how to perform differential diagnosis. Finally, this review highlights those hereditary diseases in which nail involvement is crucial for diagnosis, such as nail-patella syndrome, congenital pachyonychia, or congenital dyskeratosis, among others.
PubMed: 38663727
DOI: 10.1016/j.ad.2024.04.002 -
European Journal of Human Genetics :... Aug 2023High-throughput sequencing has become a standard first-tier approach for both diagnostics and research-based genetic testing. Consequently, this hypothesis-free... (Review)
Review
High-throughput sequencing has become a standard first-tier approach for both diagnostics and research-based genetic testing. Consequently, this hypothesis-free testing manner has revealed the true breadth of clinical features for many established genetic disorders, including Meier-Gorlin syndrome (MGORS). Previously known as ear-patella short stature syndrome, MGORS is characterized by growth delay, microtia, and patella hypo/aplasia, as well as genital abnormalities, and breast agenesis in females. Following the initial identification of genetic causes in 2011, a total of 13 genes have been identified to date associated with MGORS. In this review, we summarise the genetic and clinical findings of each gene associated with MGORS and highlight molecular insights that have been made through studying patient variants. We note interesting observations arising across this group of genes as the number of patients has increased, such as the unusually high number of synonymous variants affecting splicing in CDC45 and a subgroup of genes that also cause craniosynostosis. We focus on the complicated molecular genetics for DONSON, where we examine potential genotype-phenotype patterns using the first 3D structural model of DONSON. The canonical role of all proteins associated with MGORS are involved in different stages of DNA replication and in addition to summarising how patient variants impact on this process, we discuss the potential contribution of non-canonical roles of these proteins to the pathophysiology of MGORS.
Topics: Female; Humans; Congenital Microtia; Patella; Growth Disorders; Micrognathism
PubMed: 37059840
DOI: 10.1038/s41431-023-01359-z -
EFORT Open Reviews Apr 2024Major amputations of the lower extremity may be required after trauma and a variety of underlying diseases such as peripheral vascular disease, diabetes, and... (Review)
Review
Major amputations of the lower extremity may be required after trauma and a variety of underlying diseases such as peripheral vascular disease, diabetes, and malignancies. The goal of any major amputation is an optimal functional result with a maximum limb length in combination with optimal wound healing. The preservation of the knee joint is essential for successful rehabilitation, and this is best achieved by the Burgess below-knee amputation (BKA). Whenever a BKA is not possible, the Gritti-Stokes amputation is our first choice. This technique mainly consists of a through-knee amputation with the creation of a pedicled patella flap consisting of the patella, patellar ligament, and overlying soft tissue. After osteotomy of the distal femur and resection of the articular surface of the patella, the anterior flap is rotated in order to cover the femur defect while performing a patellofemoral arthrodesis. The aim of this paper is to describe our surgical technique and experience with GSA and to point out the important steps of this procedure. In conclusion, GSA is an excellent surgical option for patients requiring major lower limb amputations where BKA cannot be considered. Particular attention must be paid to careful preoperative evaluation and optimization of comorbidities. A meticulous surgical technique is warranted, including atraumatic tissue handling and an optimal patellofemoral arthrodesis technique.
PubMed: 38579767
DOI: 10.1530/EOR-23-0118 -
Injury Nov 2023The use of nitinol continuous compression staples has shown clinical utility in the management of various orthopaedic injuries. While literature is most robust in the... (Review)
Review
INTRODUCTION
The use of nitinol continuous compression staples has shown clinical utility in the management of various orthopaedic injuries. While literature is most robust in the realm of foot/ankle and spine surgery, the use of nitinol staples has been documented in fixation of wrist, olecranon, patella, and pelvis fractures.
METHODOLOGY
A narrative review was conducted by searching three online databases - PubMed, Web of Science, and Cochrane using the terms "Nitinol" and "Staple" published between 2003 and 2023. A total of 42 articles met inclusion/exclusion criteria and were included in this review.
REVIEW
Literature outside of foot/ankle and spine surgery is largely limited to biomechanical studies, case reports, and finite element analyses. The literature is summarized within this review by anatomic location including foot/ankle, lower extremity, hand, upper extremity, spine, and pelvis.
CONCLUSION
Existing literature demonstrates a diverse array of applications for nitinol continuous compression staples in both axial and appendicular orthopaedic care. Advantages of these implants include ease of application, ability to capture small bony fragments, continuous compression across a fracture or arthrodesis, and full coaptation which maximizes the surface area for healing and/or fusion.
Topics: Humans; Orthopedics; Alloys; Fractures, Bone; Arthrodesis
PubMed: 37769424
DOI: 10.1016/j.injury.2023.111036 -
Orthopadie (Heidelberg, Germany) Feb 2024Knee arthroplasty is a demanding procedure that, when carried out appropriately, results in significant pain relief and patient satisfaction. The success of the... (Review)
Review
Knee arthroplasty is a demanding procedure that, when carried out appropriately, results in significant pain relief and patient satisfaction. The success of the operation is influenced by many factors. The most important ones describe the implant design, the orientation of the components and the ligament tension. The patellofemoral joint is often neglected as an important part of the operation. Initially, complications in the area of the patellofemoral joint do not appear to be devastating, but in many cases, they lead to significant consequences for the patient, along with severe pain and limited mobility. The most common complications arise from patellar maltracking. This often occurs due to misplacement of the tibial and femoral components and the altered shape of the patella. If the placement of the components with regard to patellar tracking is considered, bony and/or soft tissue addressing measures remain to further optimize the movement of the patella. The following manuscript is dedicated to discussing causes to avoid patellar maltracking and improve clinical outcomes.
Topics: Humans; Arthroplasty, Replacement, Knee; Patella; Knee Joint; Patellofemoral Joint; Pain
PubMed: 38165439
DOI: 10.1007/s00132-023-04464-5 -
Frontiers in Big Data 2023Real-time analysis of large multimedia streams is nowadays made efficient by the existence of several Big Data streaming platforms, like Apache Flink and Samza. However,... (Review)
Review
Real-time analysis of large multimedia streams is nowadays made efficient by the existence of several Big Data streaming platforms, like Apache Flink and Samza. However, the use of such platforms is difficult due to the fact that facilities they offer are often too raw to be effectively exploited by analysts. We describe the evolution of RAM3S, a software infrastructure for the integration of Big Data stream processing platforms, to SPAF, an abstraction framework able to provide programmers with a simple but powerful API to ease the development of stream processing applications. By using SPAF, the programmer can easily implement real-time complex analyses of massive streams on top of a distributed computing infrastructure, able to manage the volume and velocity of Big Data streams, thus effectively transforming data into value.
PubMed: 37953916
DOI: 10.3389/fdata.2023.1227156 -
Journal of Clinical Medicine Feb 2024Patella fractures usually occur as a result of direct trauma to the anterior knee joint, indirect injury as a result of eccentric muscle contraction, or rapid knee... (Review)
Review
Patella fractures usually occur as a result of direct trauma to the anterior knee joint, indirect injury as a result of eccentric muscle contraction, or rapid knee flexion against a contracted quadriceps muscle. The patella functions as part of the extensor mechanism of the knee, where large forces are transmitted, and its subcutaneous nature has made treatment of patella fractures a challenge. In this review article, we evaluate how the management of these fractures has evolved over time and the advantages associated with the various treatment techniques. There are few comparative studies looking at the different treatment types for fractures of the patella, with the goal of achieving a functional extensor mechanism with low rates of post-traumatic arthritis and metal-work irritation.
PubMed: 38592262
DOI: 10.3390/jcm13051426