Objectives
To update the 2012 European Society of Musculoskeletal Radiology (ESSR) clinical consensus guidelines for musculoskeletal ultrasound referral in Europe.
Methods
Twenty-one musculoskeletal ...imaging experts from the ESSR participated in a consensus study based on a Delphic process. Two independent (non-voting) authors facilitated the procedure and resolved doubtful issues. Updated musculoskeletal ultrasound literature up to July 2017 was scored for shoulder, elbow, wrist/hand, hip, knee, and ankle/foot. Scoring of ultrasound elastography was included. The strength of the recommendation and level of evidence was scored by consensus greater than 67% or considered uncertain when the consensus was consensus less than 67%.
Results
A total of 123 new papers were reviewed. No evidence change was found regarding the shoulder. There were no new relevant articles for the shoulder, 10 new articles for the elbow, 28 for the hand/wrist, 3 for the hip, 7 for the knee, and 4 for the ankle/foot. Four new evidence levels of A were determined, one for the hip (gluteal tendons tears), one for the knee (meniscal cysts), one for the ankle (ankle joint instability), and one for the foot (plantar plate tear). There was no level A evidence for elastography, although for Achilles tendinopathy and lateral epicondylitis evidence level was B with grade 3 indication.
Conclusions
Four new areas of level A evidence were included in the guidelines. Elastography did not reach level A evidence. Whilst ultrasound is of increasing importance in musculoskeletal medical practice, the evidence for elastography remains moderate.
Key Points
• Evidence and expert consensus shows an increase of musculoskeletal ultrasound indications.
• Four new A evidence levels were found for the hip, knee, ankle, and foot.
• There was no level A evidence for elastography.
To validate a prognostic score predicting major complications in patients with solid tumors and seemingly stable episodes of febrile neutropenia (FN). The definition of clinical stability implies the ...absence of organ dysfunction, abnormalities in vital signs, and major infections.
We developed the Clinical Index of Stable Febrile Neutropenia (CISNE), with six explanatory variables associated with serious complications: Eastern Cooperative Oncology Group performance status ≥ 2 (2 points), chronic obstructive pulmonary disease (1 point), chronic cardiovascular disease (1 point), mucositis of grade ≥ 2 (National Cancer Institute Common Toxicity Criteria; 1 point), monocytes < 200 per μL (1 point), and stress-induced hyperglycemia (2 points). We integrated these factors into a score ranging from 0 to 8, which classifies patients into three prognostic classes: low (0 points), intermediate (1 to 2 points), and high risk (≥ 3 points). We present a multicenter validation of CISNE.
We prospectively recruited 1,133 patients with seemingly stable FN from 25 hospitals. Complication rates in the training and validation subsets, respectively, were 1.1% and 1.1% in low-, 6.1% and 6.2% in intermediate-, and 32.5% and 36% in high-risk patients; mortality rates within each class were 0% in low-, 1.6% and 0% in intermediate-, and 4.3% and 3.1% in high-risk patients. Areas under the receiver operating characteristic curves in the validation subset were 0.652 (95% CI, 0.598 to 0.703) for Talcott, 0.721 (95% CI, 0.669 to 0.768) for Multinational Association for Supportive Care in Cancer (MASCC), and 0.868 (95% CI, 0.827 to 0.903) for CISNE (P = .002 for comparison between CISNE and MASCC).
CISNE is a valid model for accurately classifying patients with cancer with seemingly stable FN episodes.
MicroRNAs (miRNAs) have been identified as promising prognostic markers in non-small-cell lung cancer (NSCLC) since they play an important role in oncogenesis. The miR-34 family is composed of three ...miRNAs (miR-34a, miR-34b and miR-34c) that are part of the p53 network and whose expression is directly induced by p53 in response to DNA damage or oncogenic stress. We have analyzed the impact of miR-34 expression on relapse and overall survival in surgically resected NSCLC patients. For this purpose, we used stem-loop reverse transcription–polymerase chain reaction to analyze the expression of the miR-34 family in paired tumor and normal tissue from 70 surgically resected NSCLC patients who received no postsurgical treatment until relapse. In addition, in patients with sufficient tumor tissue, we assessed p53 mutations and the methylation status of the MIRN34A gene promoter region and correlated these findings with miR-34a expression. Molecular findings were correlated with relapse and overall survival. The miR-34 family was downregulated in tumor compared with normal tissue, and low levels of miR-34a expression were correlated with a high probability of relapse (P = 0.04). A relation was also found between MIRN34A methylation and miR-34a expression (P = 0.008). Patients with both p53 mutations and low miR-34a levels had the highest probability of relapse (P = 0.001). In the multivariate analysis, miR-34a expression emerged as an independent prognostic marker for relapse. In summary, we have identified miR-34a as a novel prognostic marker in NSCLC patients, providing a potential mechanism for estimating a patient's risk of disease recurrence and a useful tool to help guide treatment decisions.
Charcot–Marie–Tooth disease (CMT) is the most frequent form of inherited neuropathy with great variety of phenotypes, inheritance patterns, and causative genes. According to median motor nerve ...conduction velocity (MNCV), CMT is divided into demyelinating (CMT1) with MNCV below 38 m/s, axonal (CMT2) with MNCV above 38 m/s, and intermediate CMT with MNCV between 25 and 45 m/s. In each category, transmission may be autosomal dominant, autosomal recessive, or X-linked. The nosology of intermediate CMT is controversial because of concerns about electrophysiological delimitation. A systematic computer-based literature search was conducted on PubMed, using the following MeSH: (1) intermediate Charcot–Marie–Tooth; (2) X-linked intermediate Charcot–Marie–Tooth; and (3) X-linked Charcot–Marie–Tooth and electrophysiology. We retrieved 225 articles reporting X-linked CMT or intermediate CMT with electrophysiological information. After eligibility, 156 papers were used for this review. In assessing median MNCV, compound muscle action potential (CMAP) amplitudes were taken into account. In cases with attenuated CMAP and wherever possible, proximal median MNCV was used for accurate definition of conduction slowing in the intermediate range. In the vast majority of males with X-linked CMT associated with
GJB1
mutation (CMTX1), median MNCV was intermediate. CMT associated with
DRP2
mutation is another well-documented X-linked intermediate disorder. Autosomal dominant intermediate CMT (DI-CMT) encompasses 11 different types; six of them with assigned phenotype MIM number and the remaining five being unnumbered. Based on available electrophysiological information, we wonder if DI-CMTA should be reclassified within CMT2. Autosomal recessive intermediate CMT (RI-CMT) covers four numbered MIM phenotypes though, in accordance with reported electrophysiology, two of them (RI-CMTB and RI-CMTD) should probably be reclassified within AR-CMT2. We conclude that intermediate CMT is a complex inherited syndrome, whose characterization requires a specific electrophysiological protocol comprising evaluation of upper limb proximal nerve trunks when distal CMAP amplitudes are reduced, and that an updated version of MIM phenotype numbering is needed.
This study aims at developing and demonstrating in a real case study a methodology for supporting Occupational Health and Safety Services in the design and assessment of preventive measures to reduce ...the risks of COVID-19 outbreaks within their entities. The proposed methodology applies the concepts from Social Network Analysis (SNA) to the current challenge of preventing risks of contagion of viruses like SARS-COV-2 among employees. For this purpose, the authors consider a network of employees whose interaction is caused by triggers, which are defined as common circumstances between two workers that may result in contagion, like sharing an office or participating in the same management board. The network cohesion is then evaluated, and those core nodes, which are the most significant contributors to its integration, are identified to be addressed in the design of the preventive measures. The impact of the designed preventive measures on the networks’ cohesion is assessed for its prioritization and further deployment. The methodology has been demonstrated in a real case, a Spanish Research Center, providing promising results in a quick and easy manner. The objective insights provided by its application were demonstrated as very valuable for the Occupational Health and Safety Services in the design and evaluation of the set of preventing measures to be implemented before the return of the employees to the facilities after the Spanish confinement period. The current COVID-19 outbreak brings the need to develop tools and methods to support businesses and institutions in the use of SNA for preventing outbreaks among their employees. Although some literature does exist in the field of SNA application in epidemiology, its adaptation for extensive use by the Occupational and Health Services is still a challenge.
Guillain–Barré syndrome (GBS) is an acute-onset, immune-mediated disorder of the peripheral nervous system. In early GBS, arbitrarily established up to 10 days of disease onset, patients could ...exhibit selective manifestations due to involvement of the proximal nerves, including nerve roots, spinal nerves and plexuses. Such manifestations are proximal weakness, inaugural nerve trunk pain, and atypical electrophysiological patterns, which may lead to delayed diagnosis. The aim of this paper was to analyze the nosology of early GBS reviewing electrophysiological, autopsy and imaging studies, both in acute inflammatory demyelinating polyneuropathy (AIDP) and acute motor/motor-sensory axonal neuropathy (AMAN/AMSAN). Early electrophysiology showed either well-defined demyelinating or axonal patterns, or a non-diagnostic pattern with abnormal late responses; there may be attenuated M responses upon lumbar root stimulation as the only finding. Pathological changes predominated in proximal nerves, in some studies, most prominent at the sides where the spinal roots unite to form the spinal nerves; on very early GBS endoneurial inflammatory edema was the outstanding feature. In the far majority of cases, spinal magnetic resonance imaging showed contrast enhancement of cauda equina, selectively involving anterior roots in AMAN. Both in AIDP and AMAN/AMSAN, ultrasonography has demonstrated frequent enlargement of ventral rami of C5–C7 nerves with blurred boundaries, whereas sonograms of upper and lower extremity peripheral nerves exhibited variable and less frequent abnormalities. We provide new insights into the pathogenesis and classification of early GBS.
Williams–Beuren syndrome in diverse populations Kruszka, Paul; Porras, Antonio R.; de Souza, Deise Helena ...
American journal of medical genetics. Part A,
20/May , Letnik:
176, Številka:
5
Journal Article
Recenzirano
Odprti dostop
Williams–Beuren syndrome (WBS) is a common microdeletion syndrome characterized by a 1.5Mb deletion in 7q11.23. The phenotype of WBS has been well described in populations of European descent with ...not as much attention given to other ethnicities. In this study, individuals with WBS from diverse populations were assessed clinically and by facial analysis technology. Clinical data and images from 137 individuals with WBS were found in 19 countries with an average age of 11 years and female gender of 45%. The most common clinical phenotype elements were periorbital fullness and intellectual disability which were present in greater than 90% of our cohort. Additionally, 75% or greater of all individuals with WBS had malar flattening, long philtrum, wide mouth, and small jaw. Using facial analysis technology, we compared 286 Asian, African, Caucasian, and Latin American individuals with WBS with 286 gender and age matched controls and found that the accuracy to discriminate between WBS and controls was 0.90 when the entire cohort was evaluated concurrently. The test accuracy of the facial recognition technology increased significantly when the cohort was analyzed by specific ethnic population (P‐value < 0.001 for all comparisons), with accuracies for Caucasian, African, Asian, and Latin American groups of 0.92, 0.96, 0.92, and 0.93, respectively. In summary, we present consistent clinical findings from global populations with WBS and demonstrate how facial analysis technology can support clinicians in making accurate WBS diagnoses.
Highlights • We carried out clinical-electrophysiological evaluation, and ultrasonography of peripheral nerves and cervical nerves in 6 early Guillain–Barré patients, with detailed autopsy study in ...one of them. • Involvement of spinal nerves was an outstanding finding. • Inflammatory oedema of spinal nerves is a pathogenically relevant feature to understanding the mechanism of ascending paralysis.
A series of alkyl nitrohydroxytyrosyl ether derivatives has been synthesized from free hydroxytyrosol (HT), the natural olive oil phenol, in order to increase the assortment of compounds with ...potential neuroprotective activity in Parkinson's disease. In this work, the antioxidant activity of these novel compounds has been evaluated using Ferric Reducing Antioxidant Power (FRAP), 2,2'-azinobis(3-ethylbenzothiazoline-6-sulfonic acid) diammonium salt (ABTS), and Oxygen Radical Scavenging Capacity (ORAC) assays compared to that of nitrohydroxytyrosol (NO₂HT) and free HT. New compounds showed variable antioxidant activity depending on the alkyl side chain length; compounds with short chains (2-4 carbon atoms) maintained or even improved the antioxidant activity compared to NO₂HT and/or HT, whereas those with longer side chains (6-8 carbon atoms) showed lower activity than NO₂HT but higher than HT.
Hate crimes have raised in Spain and the gender and sexuality-based conflicts persist worldwide which leads to this problem having an effect on health and wellbeing. Following a focus of transforming ...Higher Education Institutions, this research analysed the problem that affects undergraduate students in six Spanish universities. The research goal is to improve the life quality of lesbian, gay, bisexual, transgender, queer and intersex university students, breaking the silence that exists around the violence that this group suffer in Catalonia, Spain.
Following the Communicative Methodology, this study has identified violence based on sexual orientation, gender identity or gender expression in the target universities and provided guidelines to improve anti-discrimination protocols. A qualitative method has reached experiences of university students, heads of equality commissions, professors and administrative staff regarding this conflict. Focussing on the qualitative research tools, 30 semi-structured interviews were conducted with university students and staff around issues related to the violence against lesbian, gay, bisexual transgender, queer and intersex students: 1) perception of violence and discrimination, 2) institutional measures, 3) actions against violence. An analysis of exclusionary and transformative dimensions was used to identify emergent themes.
We have identified two dimensions for the analysis given their impact in contributing or overcoming violence: exclusionary and transformative. A wide range of forms of violence on the grounds of sexual orientation, gender identity and gender expression perpetrated at universities have been identified as exclusionary facts and described by participants in the study. Equality commissions have not received reports of violence based on sexual orientation, gender identity or gender expression, and university staff shows certain unfamiliarity regarding the measures and politics to prevent and intervene in cases of violence against the lesbian, gay, bisexual, transgender, queer and intersex community. Among the results identified as transformative are the ways through which actions of lesbian, gay, bisexual, transgender, queer and intersex groups against violence and the professors' commitment to intervene have a relevant impact on student's wellbeing. An improvement and implementation of anti-discrimination protocols with mandatory applicability has also been documented.
Findings highlight the need of collecting more evidence that contributes to the improvement of protocols, measures and politics to protect all the members of the university community. A better understanding of violence based on sexual orientation, gender identity and gender expression in HEI's may guide national and international governments to improve the health and well-being of lesbian, gay, bisexual, transgender, queer and intersex persons.