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Sarcoidosis Mimicking Metastatic Disease: Multisystem Involvement With Osseous Manifestations.
No full textSarcoidosis is a chronic granulomatous disease of unknown etiology that can affect multiple organs, most frequently the lungs, lymph nodes, skin, and eyes. Osseous involvement is a rare manifestation, typically affecting small bones, although axial skeleton lesions may also occur. We report the case of a 42-year-old woman with no relevant past medical history who presented with fatigue, night sweats, diffuse joint pain, and low back pain. Fluorine-18 fluorodeoxyglucose positron emission tomography/computed tomography demonstrated multiple hypermetabolic pulmonary nodules, predominantly in the right upper lobe, associated with bilateral hilar, mediastinal, and supraclavicular lymphadenopathy, as well as focal uptake in the right iliac bone, sacrum, and L4 vertebral body. Given the imaging pattern and metabolic activity, disseminated malignancy was initially suspected. Histopathological examination of mediastinal lymph node and iliac bone biopsies revealed noncaseating granulomatous inflammation. Laboratory results showed elevated serum angiotensin-converting enzyme, negative interferon-gamma release assay, and negative autoimmune serologies. Following a multidisciplinary discussion, a diagnosis of sarcoidosis was established. The patient was treated with systemic corticosteroids followed by methotrexate, with significant clinical improvement. This case highlights an uncommon presentation of multisystemic sarcoidosis with axial skeletal involvement and imaging findings mimicking metastatic disease, underscoring the importance of histological confirmation and multidisciplinary assessment in establishing an accurate diagnosis and guiding management
(Es)Ketamine As a Treatment for Depressive Episodes With Psychotic Features: Systematic Review.
No full textBackground: Psychotic symptoms in depression are linked to worse outcomes, and treatment options are limited. Ketamine and esketamine are effective antidepressants, yet most studies have excluded patients with a history of psychotic symptoms.
Aims: To evaluate by systematic review the efficacy and safety of ketamine and esketamine in treating patients with unipolar or bipolar depressive episodes with psychotic features.
Method: A comprehensive search of the PubMed, Ovid and Web of Science databases was conducted up to 2 November 2023. We included any study that reported the use of ketamine or esketamine in patients with depressive episodes with psychotic symptoms. The primary outcomes assessed were variations in depressive and psychotic symptoms and the incidence of adverse events. The protocol was preregistered in PROSPERO (CRD42023488524).
Results: Ten studies were included, encompassing 60 patients with unipolar depression with psychotic symptoms and 19 patients with bipolar depression with psychotic symptoms. Treatment with (es)ketamine showed mean score changes on the Montgomery-Åsberg Depression Rating Scale ranging from -13.7 to -18.2 points in open-label studies of patients with unipolar depression with psychotic symptoms. Up to 50% of participants achieved remission. The largest study with patients with bipolar depression with psychotic symptoms reported a mean Montgomery-Åsberg Depression Rating Scale score change of -14.9 points. Adverse events were mostly mild and transient. There were no reports of switches to (hypo)mania or deterioration of psychotic symptoms, and in six studies there was substantial improvement of the latter.
Conclusions: The available evidence suggests that (es)ketamine shows antidepressant effects in patients with depressive episodes with psychotic features and has a reasonable safety profile. However, the heterogeneity of the studies included in this review and the high risk of bias warrant caution in interpreting the findings and underscore the need for further trials to confirm these preliminary results
Unfractionated Heparin in Ruptured Aortic Aneurysms – Narrative Review
No full textINTRODUCTION: Portuguese estimates point out that nearly 20% of aortic aneurysms are treated in a ruptured setting, with in-hospital mortality reaching up to 50%. Although unfractionated heparin (UFH) is routine during elective surgery, this technical point is debatable when treating ruptured aneurysms. The authors aimed to review the literature on the topic of intraoperative heparinization with UFH within the intraoperative period of ruptured aortic aneurysms.
METHODS: A MEDLINE and Scopus database search using the terms “unfractionated heparin," “aortic aneurysm," and “ruptured aortic aneurysm” was performed. No time or language limitations were imposed. The last search was run in July 2023. Manuscripts were considered irrespective of study design. Additional articles of scientific interest for the purpose of this non-systematic review were included by cross-referencing.
RESULTS: In the rupture setting, UFH usage rates have widely varied throughout time and geographical sites, and they are reported to be as low as 16%. Overall, the evidence of UFH in clinical practice in this scenario is limited. Notwithstanding, there is some evidence from observational studies of an increased pro-coagulant activity in this clinical scenario, favoring a theoretical physiologic benefit. A prospective, non-randomized study of 131 OSR patients found that patients treated with UFH had improved 30-day survival (84% vs 67%, P=0.001). Non-significant differences in blood product usage were noted. Therefore, societal guideline recommendations about intraoperative UFH in ruptured aortic aneurysms are often missing.
CONCLUSION: UFH may potentially reduce death after open repair of rAAA. These findings should be carefully interpreted, as the evidence is scarce and heterogeneous and only portrays open repair
Lymphocyte-C-Reactive Protein Ratio: Impact on Prognosis of Patients Following Resection of Primary Liver Cancer.
No full textObjective: We sought to characterize the prognostic value of lymphocyte-C-reactive protein ratio (LCR) among patients undergoing liver resection (LR) for hepatocellular carcinoma (HCC) and intrahepatic cholangiocarcinoma (ICC).
Methods: Patients who underwent curative-intent LR for HCC and ICC between 2000 and 2023 were identified from a multiinstitutional database. The prognostic value of nine different inflammatory markers were evaluated relative to short- (i.e., postoperative morbidity) and long-term (recurrence-free survival [RFS] and overall survival [OS]) outcomes.
Results: Among 715 patients, 499 (69.8%) and 216 (30.2%) individuals were included in the derivation and validation cohorts, respectively. Patients with advanced disease and poor tumor biology had lower median levels of LCR. An optimal LCR cutoff threshold of 6100 was identified in the derivation cohort. LCR demonstrated the highest accuracy to predict RFS and OS, with areas under the ROC curve of 0.724 and 0.716, respectively. After adjusting for relevant clinicodemographic factors, lower LCR remained associated with higher odds of postoperative complications (OR: 1.98 [95% CI: 1.27-3.10] and p = 0.003) and particularly, infectious complications (OR: 2.80 [95% CI: 1.57-5.01] and p < 0.001). A lower LCR was independently associated with worse RFS (HR: 2.43 [95% CI: 1.41-3.83] and p = 0.002) and OS (HR: 2.95 [95% CI: 2.10-4.16] and p < 0.001). The prognostic ability of LCR for short- and long-term outcomes performed well in an independent validation cohort.
Conclusion: LCR was strongly associated with risk of postoperative morbidity as well as worse RFS and OS among patients undergoing LR for HCC and ICC. Preoperative LCR assessment can aid surgeons in the preoperative risk-stratification of patients undergoing surgery for primary liver cancer
Dual Posteromedial Portal Technique: Arthroscopic Loop Suspensory Fixation-Posterior Cruciate Ligament Tibial Avulsion Fracture.
No full textPosterior cruciate ligament avulsion fracture injuries have been associated with an increased risk of meniscal tears and premature patellofemoral/medial compartment osteoarthritis. Sports-related trauma is a common cause of posterior cruciate ligament avulsion fractures. Surgical management is recommended for displaced bony avulsion of the posterior cruciate ligament to stabilize the knee and prevent knee pain, nonunion, and osteoarthritis progression. This article discusses our preferred treatment using a loop suspensory fixation device through a dual posteromedial portal technique
Age-Dependent Phenotypic and Molecular Evolution of Pediatric MDS Arising from GATA2 Deficiency
No full textGATA2 deficiency is an autosomal dominant transcriptopathy disorder with high risk for myelodysplastic syndrome (MDS). To elucidate genotype-phenotype associations and identify new genetic risk factors for MDS, we analyzed 218 individuals with germline heterozygous GATA2 variants. We observed striking age-dependent incidence patterns in GATA2-related MDS (GATA2-MDS), with MDS being absent in infants, rare before age 6 years, and steeply increasing in older children. Among 108 distinct GATA2 variants (67 novel), null mutations conferred a 1.7-fold increased risk for MDS, had earlier MDS onset compared to other variants (12.2 vs. 14.6 years, p = 0.009) and were associated with lymphedema and deafness. In contrast, intron 4 variants exhibited reduced penetrance and lower risk for MDS development. Analysis of the somatic landscape revealed unique patterns of clonal hematopoiesis. SETBP1 mutations occurred exclusively in patients with monosomy 7 and their frequency decreased with age. Conversely, the frequency of STAG2 mutations and trisomy 8 increased with age and appeared protective against early development of advanced MDS. Overall, the majority (73.9%) of mutation-positive cases harbored monosomy 7, suggesting it serves as a major driver in malignant progression. Our findings provide evidence for age-appropriate surveillance, and a foundation for genotype-driven risk stratification in GATA2 deficiency
Bone Histomorphometry for the Diagnosis of Renal Osteodystrophy - a European Consensus Statement.
No full textHistomorphometric analysis of an iliac bone biopsy remains the gold standard for the diagnosis of renal osteodystrophy (ROD), which comprises various histological lesions induced by chronic kidney disease (CKD). ROD belongs to the framework of CKD-associated osteoporosis. The use of bone biopsy in the routine management of CKD-associated osteoporosis has decreased over the past decades for various reasons, including diminishing expertise in performing the procedure, and major variability in processing bone samples and reporting of results. In this context, the European Renal Osteodystrophy group, a part of the CKD-mineral and bone disorder working group of the European Renal Association launched an initiative to evaluate various issues related to bone histomorphometry in the context of ROD. To this effect, 28 experts from 14 European countries engaged in rounds of discussions to reach a consensus related to the bone biopsy procedure, sample handling, and reading and reporting findings. Key conclusions include a recommendation that all practitioners in this field move towards reporting diagnostic findings by the turnover, mineralization, and volume (TMV) classification and that external quality control is prioritized to ensure validity and reproducibility of results. The consensus group recognises that the lack of an accepted normative reference for bone histomorphometry is a barrier towards uniform diagnostic definitions and recommends further collaborative efforts in this area. Until these issues are solved, transparent reporting on the choice of reference and diagnostic definitions applied should be adhered to, both in clinical reports and research settings
Impairment in Social Cognition in People With Substance Use Disorders.
No full textIntroduction: Substance use disorders are associated with impairments in various neuropsychological functions. We evaluated potential alterations in social cognition and differences between men and women in individuals with substance use disorders undergoing treatment at Addiction and Dependency Intervention Centers in Portugal.
Methods: The assessment utilized the Ekman 60 Faces Test (EFT), Interpersonal Reactivity Index (IRI), Hinting Task, and Ambiguous Intentions Hostility Questionnaire (AIHQ).
Results: Results showed that 70.2% of participants exhibited social cognition impairments (50% of women and 79.5% of men). Compared to non-clinical populations, individuals with social cognition impairments displayed significant differences in recognizing emotions such as happiness, fear, sadness, disgust, anger, and in the total EFT score. Differences were also observed in the fantasy and personal distress dimensions of the IRI, as well as in hostility, intentionality, and aggression biases on the AIHQ. Slight differences were found between men and women, but were not statistically significant.
Discussion: We discuss the clinical relevance of social cognition alterations and their potential utility in improving diagnostic and therapeutic processes for individuals with substance use disorders
Ergo4Workers: A User-Centred App for Tracking Posture and Workload in Healthcare Professionals.
No full textHealthcare professionals (namely, occupational therapists) face ergonomic risk factors that may lead to work-related musculoskeletal disorders (WRMSD). Ergonomic assessments are crucial to mitigate this occupational issue. Wearable devices are a potential solution for such assessments, providing continuous measurement of biomechanical and physiological parameters. Ergo4workers (E4W) is a mobile application designed to integrate data from independent wearable sensors-motion capture system, surface electromyography, force platform, and smartwatch-to provide an overview of the posture and workload of occupational therapists. It can help identify poor work practices and raise awareness about ergonomic risk factors. This paper describes the development of E4W by following a User-Centred Design (UCD) approach. The initial stage focused on specifying the context of use in collaboration with six occupational therapists. Then the app was implemented using WordPress. Three iterations of the UCD cycle were performed. The usability test of prototype 1 was carried out in a laboratory environment, while the others were tested in a real healthcare work environment. The Cognitive Walkthrough was applied in the usability tests of prototypes 1 and 2. The System Usability Scale evaluated prototype 3. Results evidenced positive feedback, reflecting an easy-to-use and intuitive smartphone app that does not interfere with daily work activities