Metastatic meningioma: a case series and systematic review.

BACKGROUND: Meningiomas are the most common primary intracranial tumor. While the majority of meningiomas are benign, rarely they can metastasize extracranially. There is a need for a more comprehensive review of these patients to improve our understanding of this rare phenomenon and its prevalence globally. Here we describe our institution's experience of patients presenting with metastatic meningiomas. We further perform a systematic review of the existing literature to explore common features of this rare manifestation of meningioma and review the efficacy of current treatments. METHODS: We performed a retrospective clinical review of all adult patients with metastatic meningioma managed at our institution over the past 20 years, identifying 6 patients. We then performed a systematic review of cases of metastatic meningioma in the literature ranging from the years 1886 to 2022. A descriptive analysis was then conducted on the available data from 1979 onward, focusing on the grade and location of the primary tumor as well as the latency period to, and location of, the metastasis. RESULTS: In total, we analyzed 155 cases. Fifty-four percent of patients initially presented with a primary meningioma located in the convexity. The most common site of metastasis was the lung. Risk factors associated with a shorter time to metastasis were male sex and a high initial grade of the tumor. Regarding treatment, the addition of chemotherapy was the most common adjunct to the standard management of surgery and radiotherapy. Despite an exhaustive review we were unable to identify effective treatments. The majority of published cases came from centers situated in high-income countries (84%) while only 16% came from lower- and middle-income countries. CONCLUSIONS: Metastatic meningiomas pose a pertinent, and likely underestimated, clinical challenge within modern neurosurgery. To optimize management, timely identification of these patients is important. More research is needed to explore the mechanisms underlying these tumors to better guide the development of effective screening and management protocols. However, screening of each meningioma patient is not feasible, and at the heart of this challenge is the inability to control the primary disease. Ultimately, a consensus is needed as to how to correctly screen for and manage these patients; genomic and epigenomic approaches could hold the answer to finding druggable targets.

The role of genetic and epigenetic factors in determining the risk of spinal fragility fractures: new insights in the management of spinal osteoporosis.

Osteoporosis predisposes patients to spinal fragility fractures. Imaging plays a key role in the diagnosis and prognostication of these osteoporotic vertebral fractures (OVF). However, the current imaging knowledge base for OVF is lacking sufficient standardisation to enable effective risk prognostication. OVF have been shown to be more prevalent in Caucasian patient cohorts in comparison to the Eastern Asian population. These population-based differences in risk for developing OVF suggest that there could be genetic and epigenetic factors that drive the pathogenesis of osteoporosis, low bone mineral density (BMD) and OVF. Several genetic loci have been associated with a higher vertebral fracture risk, although at varying degrees of significance. The present challenge is clarifying whether these associations are specific to vertebral fractures or osteoporosis more generally. Furthermore, these factors could be exploited for diagnostic interpretation as biomarkers [including novel long non-coding (lnc)RNAs, micro (mi)RNAs and circular (circ)RNAs]. The extent of methylation of genes, alongside post-translational histone modifications, have shown to affect several interlinked pathways that converge on the regulation of bone deposition and resorption, partially through their influence on osteoblast and osteoclast differentiation. Lastly, in addition to biomarkers, several exciting new imaging modalities could add to the established dual-energy X-ray absorptiometry (DXA) method used for BMD assessment. New technologies, and novel sequences within existing imaging modalities, may be able to quantify the quality of bone in addition to the BMD and bone structure; these are making progress through various stages of development from the pre-clinical sphere through to deployment in the clinical setting. In this mini review, we explore the literature to clarify the genetic and epigenetic factors associated with spinal fragility fractures and delineate the causal genes, pathways and interactions which could drive different risk profiles. We also outline the cutting-edge imaging modalities which could transform diagnostic protocols for OVF.

Coronavirus disease (COVID-19) and conjunctival sac swab findings.

BACKGROUND: The purpose of this article is to evaluate the positivity of conjunctival sac swab by PCR (Polymerase chain reaction) test in COronaVIrus Disease 19 (COVID-19) patients. METHODS: Inclusion criteria of our study were COVID-19 patients hospitalized during March 2021 in inpatient wards at University Hospitals in towns Bratislava and Zilina, Slovakia. The conjunctival sac swabs collected by four ophthalmologists were stored for 24 h, then analyzed in the laboratory of the Department of Microbiology and Immunology, Jessenius Faculty of Medicine in Martin, Comenius University, Slovakia. The sampling apparatus, used for conjunctival sac swab, was the Dacron polyester swab. RESULTS: We examined one group of 302 COVID-19 patients, 168 Male (56%) and 134 Female (44%). The patients' mean age was 66.3 ± 13.66 years, ranging from 25 to 96 years, and the mean length of hospital stay in our patients with a nasopharyngeal positive PCR test was 7.33 ± 4.76, from 2 to 24 days. The PCR tests from the conjunctival sac swabs were positive in 33 patients (11%), negative in 259 patients (86%), and ten patients (3%) were with the unclear result. In the group of 33 positive patients were 17 males with a mean age of 74.6 ± 13.59 years and 16 females with a mean age of 70.63 ± 14.17 years. The cycle threshold (CT) values differed significantly between conjunctival sac swabs from the nasopharynx and the conjunctiva. Medians of the values were 25.1 (14.1, 32.1) and 31.5 (22.6, 36.6) (P <  0.001), respectively. CONCLUSION: This study affirmed that in COVID-19 patients the SARS-CoV-2 was detectable with PCR test in conjunctival sac swab, but the positivity rate was only about one to ten cases (11%).

Evaluating the potential of novel genetic approaches for the treatment of Duchenne muscular dystrophy.

Duchenne muscular dystrophy (DMD) is an X-linked progressive muscle-wasting disorder that is caused by a lack of functional dystrophin, a cytoplasmic protein necessary for the structural integrity of muscle. As variants in the dystrophin gene lead to a disruption of the reading frame, pharmacological treatments have only limited efficacy; there is currently no effective therapy and consequently, a significant unmet clinical need for DMD. Recently, novel genetic approaches have shown real promise in treating DMD, with advancements in the efficacy and tropism of exon skipping and surrogate gene therapy. CRISPR-Cas9 has the potential to be a 'one-hit' curative treatment in the coming decade. The current limitations of gene editing, such as off-target effects and immunogenicity, are in fact partly constraints of the delivery method itself, and thus research focus has shifted to improving the viral vector. In order to halt the loss of ambulation, early diagnosis and treatment will be pivotal. In an era where genetic sequencing is increasingly utilised in the clinic, genetic therapies will play a progressively central role in DMD therapy. This review delineates the relative merits of cutting-edge genetic approaches, as well as the challenges that still need to be overcome before they become clinically viable.