Aggressive systemic mastocytosis with the co-occurrence of PRKG2::PDGFRB, KAT6A::NCOA2, and RXRA::NOTCH1 fusion transcripts and a heterozygous RUNX1 frameshift mutation.

Systemic mastocytosis (SM) is a myeloproliferative neoplasm displaying abnormal mast cell proliferation. It is subdivided into different forms, including aggressive systemic mastocytosis (ASM) and systemic mastocytosis with an associated hematologic neoplasm (SM-AHN). Oncogenic genetic alterations include point mutations, mainly the KIT D816V, conferring poor prognosis and therapy resistance, and fusion genes, with those involving PDGFRA/PDGFRB as the most recurrent events. We here describe an ASM case negative to the KIT D816V and JAK2 V617F alterations but showing a RUNX1 frameshift heterozygous mutation and the co-occurrence of three fusion transcripts. The first one, PRKG2::PDGFRB, was generated by a balanced t(4;5)(q24;q32) translocation as the sole abnormality. Other two novel chimeras, KAT6A::NCOA2 and RXRA::NOTCH1, originated from cryptic intra-chromosomal abnormalities. The patient rapidly evolved towards SM-AHN, characterized by the persistence of the PRKG2::PDGFRB chimera, due to the presence of an extra copy of the der(5)t(4;5)(q24;q34) chromosome and an increase in the RUNX1 mutation allelic frequency. The results indicated that the transcriptional landscape and the mutational profile of SM deserve attention to predict the evolution and prognosis of this complex disease, whose classification criteria are still a matter of debate.

The Dimorphos ejecta plume properties revealed by LICIACube.

The Double Asteroid Redirection Test (DART) had an impact with Dimorphos (a satellite of the asteroid Didymos) on 26 September 20221. Ground-based observations showed that the Didymos system brightened by a factor of 8.3 after the impact because of ejecta, returning to the pre-impact brightness 23.7 days afterwards2. Hubble Space Telescope observations made from 15 minutes after impact to 18.5 days after, with a spatial resolution of 2.1 kilometres per pixel, showed a complex evolution of the ejecta3, consistent with other asteroid impact events. The momentum enhancement factor, determined using the measured binary period change4, ranges between 2.2 and 4.9, depending on the assumptions about the mass and density of Dimorphos5. Here we report observations from the LUKE and LEIA instruments on the LICIACube cube satellite, which was deployed 15 days in advance of the impact of DART. Data were taken from 71 seconds before the impact until 320 seconds afterwards. The ejecta plume was a cone with an aperture angle of 140 ± 4 degrees. The inner region of the plume was blue, becoming redder with increasing distance from Dimorphos. The ejecta plume exhibited a complex and inhomogeneous structure, characterized by filaments, dust grains and single or clustered boulders. The ejecta velocities ranged from a few tens of metres per second to about 500 metres per second.

Diagnostic approach to focal liver lesions at cross-sectional imaging: a primer for beginners.

Liver imaging encompasses a broad spectrum of diseases in different clinical backgrounds. The available literature is vast and reported data often lacks standardization. Because of all these issues, the differential diagnosis and the characterization of liver lesions can be challenging for the beginner. The aim of this narrative review is to provide the basics for an algorithm approach to liver lesions on cross-sectional imaging. First, some tips for the optimization of Computed Tomography (CT) and Magnetic Resonance Imaging (MRI) protocols will be provided. Liver Imaging Reporting and Data System (LI-RADS, version 2018) working group is proposing the adoption of their standardized lexicon beyond the original target population of LI-RADS (i.e., liver cirrhosis). Thus, the main imaging findings will be defined following the LI-RADS lexicon. Since the contrast study is the most important for lesion characterization, this narrative review separates the lesions into avascular, hypovascular, and hypervascular, with a focus on chronic liver disease (CLD) and hepatocellular carcinoma (HCC).

MRgFUS thalamotomy for the treatment of tremor: evaluation of learning curve and operator's experience impact on the procedural and clinical outcome.

BACKGROUND: MRgFUS Vim ablation is increasingly used for the treatment of tremor in ET e PD patients but there is little published research on the importance of operator experience in this procedure. This study aims to evaluate the learning curve and the influence of the operator experience on the procedural and clinical outcomes. METHODS: We retrospectively evaluated 90 patients (38 ET, 52 PD) submitted to MRgFUS unilateral thalamotomy in the period between February 2018 and July 2020. Clinical endpoints, procedural times, and technical parameters were recorded in all procedures. Based on the time of treatment, patients were divided into three groups of 30 units each, comparing all variables between each time period group. RESULTS: In Group A, the average patient preparation time was 120.6 min, the treatment time was 105.2 min, the number of was sonications 14.1, and the mean target shifts 3.1. In Group B, the mean preparation time was 105.5 min, the treatment time was 89.5 min, the number of sonications was 13.2, and the target shifts 3.0. Group C showed inferior values of preparation time (101.9 min), treatment time (71.7 min), numbers of sonications (10.6), and shifts (1.7). Thalamotomy-related complications occurred in 9 patients of Group A, 2 of Group B, and 5 of Group C. Tremor relapse occurred in 7 patients of Group A, 3 of Group B, and 2 of Group C. The days of hospitalization were comparable in the three groups. CONCLUSIONS: The operators experience is associated with the improvement of clinical and procedural outcome in MRgFUS thalatomy for the treatment of ET and PD tremor.

Technological advances in body CT: a primer for beginners.

Many technological advances have entered the clinical routine of Computed Tomography (CT) imaging. The new CT scanners have specific solutions in gantry design to bear the mechanical solicitations. The X-ray tubes have been improved for faster acquisitions at low radiation exposure, while the innovations in CT detectors provide a better image quality. The optimization of image quality and contrast, and the reduction of radiation dose, cannot be achieved without the implementation of adequate reconstruction software, such as Iterative Reconstructions (IR) and Artificial Intelligence (AI). In recent years, dual-energy (DECT) technology has expanded the indications of CT. In this narrative review, a panoramic overview of the technological novelties in CT imaging will be provided for optimal utilization of CT technology.

Degenerative and inflammatory musculoskeletal disorders: updates and hot topics in diagnostic and interventional imaging.

OBJECTIVE: The purpose of this review is to present the latest innovations and current topics in musculoskeletal diagnosis and interventional imaging, with a focus on degenerative and inflammatory diseases. MATERIALS AND METHODS: In this study, the search was conducted through the online databases PubMed and Google Scholar, including articles published in English in the past 15 years, in order to find existing studies, clinical cases, and reviews on the latest innovations and current topics in degenerative and inflammatory musculoskeletal pathologies. RESULTS: Imaging plays a pivotal role in the diagnosis and treatment of MSK degenerative and inflammatory disease. In the last few years continuous innovations and technological advances have allowed new clinical applications in the management of MSK disorder. Advanced magnetic resonance techniques, the introduction of fusion imaging techniques and new approaches to infiltrative medicine are revolutionizing the clinical and therapeutic approach to degenerative and inflammatory pathologies. Artificial intelligence also increasingly seeks to be applied in all fields of medicine and radiology with increasingly promising results. CONCLUSIONS: Imaging modalities undergo continuous innovations and revolutions due to technological advances, with direct repercussions on clinical applications and new therapeutic potential through interventional radiology techniques. In recent years, there have been particular innovations in the context of musculoskeletal imaging of degenerative and inflammatory diseases, both for diagnosis and intervention.

Thoracic non-traumatic cardiovascular diseases: current perspective and multi-detectors Computed Tomography protocols optimization in the emergency setting.

Cardiovascular diseases (CVDs) are among the most common causes of access to the Emergency Department and among the leading causes of death worldwide. Accurate diagnostic algorithms are mandatory to ensure a rapid life-saving treatment. However, non-specific clinical presentation and unnecessary referrals to other subspecialties may lead to misinterpretation of the diagnosis and delays. In recent years, the development of imaging technologies has allowed Computed Tomography (CT) to play a prominent role in the concepts of CVD rule-in and rule-out. An optimization strategy for CT protocols is needed to reduce variability and improve image quality. A correct diagnostic suspicion is crucial, as different districts (i.e., heart, aorta and pulmonary circulation) may require different investigation techniques. Additionally, the CVD pre-test probability assessment is highly correlated with CT accuracy. The purpose of this narrative review is to analyze the current role of CT in the approach to the CVDs in the ED, and to analyze the main strategies of CT optimization.

Non-traumatic non-cardiovascular thoracic emergencies: role of imaging.

Patients presenting to the emergency with thoracic symptoms could have a wide variety of causes, even if the traumatic and vascular causes are excluded. Therefore, the diagnosis is often a challenge for emergency physicians. Anamnesis, physical examination and laboratory testing need to be integrated with imaging to get a rapid diagnosis and to distinguish among the potential causes. This review discusses the role of diagnostic imaging studies in the emergency setting in patients with non-traumatic non-cardiovascular thoracic symptoms. The use of chest x-ray, bedside lung Ultrasound and Computed Tomography in the diagnosis and care of these patients have been reviewed as well as the common findings on imaging.

Optimization of CT protocol in polytrauma patients: an update.

Radiologists play a key role in the management of trauma patients. With the improvement of computed tomography (CT), radiologist makes an important contribution to the timely diagnosis of trauma-related findings and the choice of the most suitable treatment, improving patient outcomes. It is important to select the most appropriate imaging technique, which in the trauma patient is CT, and especially the most appropriate CT protocol, to correctly characterize trauma injuries. Currently, there is no agreement on what the optimal protocol is, acquisition times and number of contrast enhanced phases are not standardized. This is a review of the most recent literature on optimizing the CT protocol in polytrauma, with the intent of giving a useful tool for radiologists in the management of trauma patients.

CT study protocol optimization in acute non-traumatic abdominal settings.

Abdominal acute pain is a manifestation of heterogeneous medical conditions, with difficult clinical-laboratory assessment. Multi-detector CT (MDCT) is the gold standard imaging technique for evaluating adult patients with acute abdominal pain. Due to its fast execution and the high spatial resolution, CT is fundamental in the diagnostic and therapeutic work-up of patients with time-dependent pathology that could require surgical treatment, reducing mortality and morbidity. However, the radiological risk connected to the ionizing radiation use should not be underestimated, especially in young patients. The aim of this study is to identify optimized CT protocols to apply in the management of non-traumatic acute abdomen. In particular, this review is focused on the main emergency settings: acute pancreatitis, small bowel obstruction, acute appendicitis and acute diverticulitis. This survey would not be complete without mentioning Dual-Energy CT (DECT) technique, one of the last frontiers in CT, achieving encouraging results also in acute abdominal conditions.

Impact of sarcopenia in SARS-CoV-2 patients during two different epidemic waves.

BACKGROUND: Sarcopenia was reported to be associated with poor clinical outcome, higher incidence of community-acquired pneumonia, increased risk of infections and reduced survival in different clinical settings. The aim of our work is to evaluate the prognostic role of sarcopenia in patients with the 2019 novel coronavirus disease (COVID-19). MATERIALS AND METHODS: 272 COVID-19 patients admitted to the University Hospital of Modena (Italy) from February 2020 to January 2021 were retrospectively studied. All included patients underwent a chest computed tomography (CT) scan to assess pneumonia during their hospitalization and showed a positive SARS-CoV-2 molecular test. Sarcopenia was defined by skeletal muscle area (SMA) evaluation at the 12th thoracic vertebra (T12). Clinical, laboratory data and adverse clinical outcome (admission to Intensive Care Unit and death) were collected for all patients. RESULTS: Prevalence of sarcopenia was high (41.5%) but significantly different in each pandemic wave (57.9% vs 21.6% p < 0.0000). At the multivariate analysis, sarcopenia during the first wave (Hazard Ratio 2.29, 95% confidence intervals 1.17 to 4.49 p = 0.0162) was the only independent prognostic factor for adverse clinical outcome. There were no significant differences in comorbidities and COVID19 severity in terms of pulmonary involvement at lung CT comparing during the first and second wave. Mixed pattern with peripheral and central involvement was found to be dominant in both groups. CONCLUSION: We highlight the prognostic impact of sarcopenia in COVID-19 patients hospitalized during the first wave. T12 SMA could represent a potential tool to identify sarcopenic patients in particular settings. Further studies are needed to better understand the association between sarcopenia and COVID-19.

Diagnostic protocols in oncology: workup and treatment planning. Part 1: the optimitation of CT protocol.

The increase in oncology knowledge and the possibility of creating personalized medicine by selecting a more suitable therapy related to tumor subtypes, as well as the patient's management with cancer within a multidisciplinary team has improved the clinical outcomes. Early detection of cancer through screening-based imaging is probably the major contributor to a reduction in mortality for certain cancers. Nowadays, imaging can also characterize several lesions and predict their histopathological features and can predict tumor behaviour and prognosis. CT is the main diagnostic tool in oncologic imaging and is widely used for the tumors detection, staging, and follow-up. Moreover, since CT accounts for 49-66% of overall patient radiation exposure, the constant reduction, optimization, dose inter- and intraindividual consistency are major goals in radiological field. In the recent years, numerous dose reduction techniques have been established and created voltage modulation keeping a satisfactory image quality. The introduction of CT dual-layer detector technology enabled the acquisition of spectral data without additional CT x-ray tube or additional acquisitions. In addition, since MRI does not expose the body to radiation, it has become a mainstay of non-invasive diagnostic radiology modality since the 1980s.

Diagnostic protocols in oncology: workup and treatment planning. Part 2: Abbreviated MR protocol.

Magnetic resonance imaging (MRI) is a non-invasive imaging technique (non-ionizing radiation) with superior soft tissue contrasts and potential morphological and functional applications. However, long examination and interpretation times, as well as higher costs, still represent barriers to MRI use in clinical routine. Abbreviated MRI protocols have emerged as an alternative to standard MRI protocols. Abbreviated MRI protocols eliminate redundant sequences that negatively affect cost, acquisition time, patient comfort. However, the diagnostic information is generally not compromised. Abbreviated MRI protocols have already been utilized for hepatocellular carcinoma, for prostate cancer detection, and for nonalcoholic fatty liver disease screening.

Is it possible to identify the inguinal nerves during hernioplasty? A systematic review of the literature and meta-analysis of cadaveric and surgical studies.

PURPOSE: Patients who undergo inguinal hernioplasty may suffer from persistent postoperative pain due to inguinal nerve injuries. The aim of this systematic review and meta-analysis was to provide comprehensive data on the prevalence (identification rates), anatomical characteristics, and ethnic variations of the ilioinguinal (IIN), the iliohypogastric (IHN) and the genital branch of the genitofemoral (GNF) nerves. METHODS: The systematic literature search was conducted using the PubMed, Scopus and Web of Science databases. RESULTS: A total of 26 articles (5265 half-body examinations) were included in this study. The identification rate of the IIN was 94.4% (95% CI 89.5-97.9) using a random-effects model. Unweighted multiple regression analysis showed that study sample size (ß = - 0.74, p = .036) was the only statistically significant predictor of lower prevalence. The identification rates of the IHN and GNF was 86.7% (95% CI 78.3%-93.3%) and 69.1% (95% CI 53.1%-83.0%) using a random-effects model, respectively. For those outcomes, a visual analysis of funnel and Doi plots indicated irregularity and provided evidence that larger studies tended to have lower identification rates. In terms of the synthesis of anatomical reference points, there was a large and statistically significant amount of heterogeneity for most outcomes. CONCLUSIONS: The identification rates of the inguinal nerves in our study were lower than reported in literature. The lowest was found for GNF, suggesting that this nerve was the most difficult to identify. Knowledge regarding the anatomy of the inguinal nerves can facilitate their proper identification and reduce the risk of iatrogenic injury and postoperative pain.

Retained sponges in abdomen: an analysis of the judgments of the Italian Supreme Court.

The administration of justice in Italy includes first, second and third instance. The first and second instances are represented by the Court of First Instance and the Court of Appeal: these are judgment of Romamerit. The court of last appeal for both the civil and the criminal jurisdiction is the Court of Cassation, the Italian Supreme Court. It is a court of legitimacy that should provide for a consistent and uniform interpretation of the law and that only on points of law, not on factual evidence. The Court of Cassation can confirm the sentence of second instance, can dismiss it without referral, can deciding and closing the trial definitively, or dismiss it referring the case to the judge of merit that must decide according to the principles set out in the legitimacy. The aim of this study is to analyze the Supreme Cassation Court's judgments on the legal proceedings about retained sponges in abdomen.

Inguinal hernia repair in day surgery: the role of MAC (Monitored Anesthesia Care) with remifentanil.

BACKGROUND: The extension of indications for procedures in a Day Surgery (DS) setting has led to changes in the anesthetic and surgical treatment of Inguinal Hernias (IH). According to the recommendations of the European Hernia Society, the treatment of IH in DS units should be performed under Monitored Anesthesia Care (MAC). PATIENTS AND METHODS: 960 patients underwent IH repairs over a period of 24 months. The patients were randomly divided into two groups: R (remifentanil) and F (fentanyl); the group F was considered as a control group. The exclusion criteria in both group were: morbid obesity (BMI>40 or BMI>35 in association with high blood pressure or diabetes); coagulopathy; OSAS (obstructive sleep apnea syndrome) with AHI >10; cardiovascular, respiratory, renal, hepatic or metabolic disease; history of substances abuse; GERD-related esophagitis (gastro-esophageal reflux disease); chronic analgesic use; allergy to local anesthetic and ASA>III. Patients reported their level of pain on a verbal numeric scale (VNS), with scores ranging from 0 to 10. For each patient systolic and diastolic blood pressure (SBP and DBP), mean arterial pressure (MAP), heart rate (HR) and peripheral oxygen saturation (SpO2) were recorded. The results are presented as the mean value ± standard deviations; statistical analysis was performed using Student's t-test. RESULTS: Amongst the 960 procedures, complications or side effects related to the anesthetic techniques didn't occur; no procedure-related complications requiring mechanical ventilation support were reported. Our research focused on evaluating remifentanil effectiveness in pain control and its impact on hemodynamic stability and respiratory function. There was a significant difference between the two groups with regard to the VNS. CONCLUSIONS: Remifentanil, is an excellent drug for pain control during intra-operative procedures, that allows an optimal hemodynamic stability for IH repairs in a DS setting, due to its pharmacokinetic and pharmacodynamic properties and few adverse effects.

Measurement of intra-abdominal pressure in large incisional hernia repair to prevent abdominal compartmental syndrome.

INTRODUCTION: The repair of large incisional hernias may occasionally lead to a substantial increase in intra-abdominal pressure (IAP), and rarely to abdominal compartmental syndrome (ACS) with subsequent respiratory, vascular, and visceral complications. Measurement of the IAP has recently become a common practice in monitoring critical patients, even though such measurements were obtained in the early 1900s. PATIENTS AND METHODS: A prospective study involving 54 patients undergoing elective abdominal wall gap repair (mean length, 17.4 cm) with a tension-free technique after incisional hernia was conducted. The purpose of the study was to determine whether or not urinary pressure for indirect IAP measurement is a reliable method for the early identification of patients with a higher risk of developing ACS. IAP measurements were performed using a Foley catheter connected to a HOLTECH® medical manometer. IAP values were determined preoperatively, after anesthetic induction, upon patient awakening, upon patient arrival in the ward after surgery, and 24 h after surgery before removing the catheter. All patients were treated by the same surgical team using a prosthetic composite mesh (PARIETEX®). RESULTS: Incisional hernia repair caused an increase in the mean IAP score of 2.68 mmHg in 47 of 54 patients (87.04%); the IAP was decreased in two patients (3.7%) and remained equal in five patients before and 24 h after surgery (9.26%). FEV-1, measured 24 h after surgery, increased in 50 patients (92.6%), remained stable in two patients (3.7%), and decreased in two patients (3.7%). The mean increase in FEV-1 was 0.0676 L (maximum increase = 0.42 L and minimum increase = 0.01 L) in any patient who developed ACS. CONCLUSIONS: Measurement of urinary bladder pressure has been shown to be easy to perform and free of complications. Measurement of urinary bladder pressure can also be a useful tool to identify patients with a higher risk of developing ACS.

Cometary science. The organic-rich surface of comet 67P/Churyumov-Gerasimenko as seen by VIRTIS/Rosetta.

The VIRTIS (Visible, Infrared and Thermal Imaging Spectrometer) instrument on board the Rosetta spacecraft has provided evidence of carbon-bearing compounds on the nucleus of the comet 67P/Churyumov-Gerasimenko. The very low reflectance of the nucleus (normal albedo of 0.060 ± 0.003 at 0.55 micrometers), the spectral slopes in visible and infrared ranges (5 to 25 and 1.5 to 5% kÅ(-1)), and the broad absorption feature in the 2.9-to-3.6-micrometer range present across the entire illuminated surface are compatible with opaque minerals associated with nonvolatile organic macromolecular materials: a complex mixture of various types of carbon-hydrogen and/or oxygen-hydrogen chemical groups, with little contribution of nitrogen-hydrogen groups. In active areas, the changes in spectral slope and absorption feature width may suggest small amounts of water-ice. However, no ice-rich patches are observed, indicating a generally dehydrated nature for the surface currently illuminated by the Sun.

A probabilistic model to investigate the properties of prognostic tools for falls.

BACKGROUND: Falls are a prevalent and burdensome problem in the elderly. Tools for the assessment of fall risk are fundamental for fall prevention. Clinical studies for the development and evaluation of prognostic tools for falls show high heterogeneity in the settings and in the reported results. Newly developed tools are susceptible to over-optimism. OBJECTIVES: This study proposes a probabilistic model to address critical issues about fall prediction through the analysis of the properties of an ideal prognostic tool for falls. METHODS: The model assumes that falls occur within a population according to the Greenwood and Yule scheme for accident-proneness. Parameters for the fall rate distribution are estimated from counts of falls of four different epidemiological studies. RESULTS: We obtained analytic formulas and quantitative estimates for the predictive and discriminative properties of the ideal prognostic tool. The area under the receiver operating characteristic curve (AUC) ranges between about 0.80 and 0.89 when prediction on any fall is made within a follow-up of one year. Predicting on multiple falls results in higher AUC. CONCLUSIONS: The discriminative ability of current validated prognostic tools for falls is sensibly lower than what the proposed ideal perfect tool achieves. A sensitivity analysis of the predictive and discriminative properties of the tool with respect to study settings and fall rate distribution identifies major factors that can account for the high heterogeneity of results observed in the literature.

Model-based control of plasma glycemia: Tests on populations of virtual patients.

Closed-loop devices delivering medical treatments in an automatic fashion clearly require a thorough preliminary phase according to which the proposed control law is tested and validated as realistically as possible, before arranging in vivo experiments in a clinical setting. The present note develops a virtual environment aiming to validate a recently proposed model-based glucose control law on a solid simulation framework. From a theoretical viewpoint, the artificial pancreas has been designed by suitably exploiting a minimal set of delay differential equations modeling the glucose-insulin regulatory system; on the other hand, the validation platform makes use of a different, multi-compartmental model to build up a population of virtual patients. Simulations are carried out by properly addressing the available technological limits and the unavoidable uncertainties in real-time continuous glucose sensors as well as possible malfunctioning on the insulin delivery devices. The results show the robustness of the proposed control law that turns out to be efficient and extremely safe on a heterogenous population of virtual patients.